CARLO CASALI

Associate professor

email: carlo.casali@uniroma1.it
phone:




Research products

11573/1705171 - 2024 - Nerve ultrasound in Friedreich's Ataxia: enlarged nerves as a biomarker of disease severity
Di Pietro, G.; Cioffi, E.; Falco, P.; Galosi, E.; De Stefano, G.; Di Stefano, G.; Leone, C.; Martines, V.; Perotti, S.; Casali, C.; Truini, A. - 01a Articolo in rivista
paper: CLINICAL NEUROPHYSIOLOGY (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114) pp. 75-80 - issn: 1388-2457 - wos: WOS:001187805500001 (2) - scopus: 2-s2.0-85185248895 (2)

11573/1726831 - 2024 - Imaging-based methods to identify prognostic and predictive biomarkers for Hereditary Spastic Paraplegia
Fattorini, G.; Licursi, V.; Santorelli, M. F.; Silvestri, G.; Casali, C.; Rinaldo, C.; Sardina, F. - 04f Poster
conference: European Microscopy Conference 2024 (Copenhagen, DK)
book: EMC24 conference - ()

11573/1726832 - 2024 - Development of cell imaging-tools to identify prognostic and predictive biomarkers in Hereditary Spastic Paraplegia (HSP)
Fattorini, Gaia; Licursi, V.; Santorelli, M. F.; Silvestri, Gabriella; Casali, C.; Rinaldo, Cinzia; Sardina, F. - 04f Poster
conference: National PhD Meeting - ABCD (Bologna (BO), Italy)
book: ABCD PhD symposium - 2024 - ()

11573/1702499 - 2024 - Comprehensive cardiovascular management of myotonic dystrophy type 1 patients: a report from the italian neuro-cardiology network
Russo, Vincenzo; Antonini, Giovanni; Massa, Roberto; Casali, Carlo; Mauriello, Alfredo; Martino, Anna Maria; Marconi, Roberto; Garibaldi, Matteo; Franciosa, Pasquale; Zecchin, Massimo; Gaudio, Carlo; D'andrea, Antonello; Strano, Stefano - 01g Articolo di rassegna (Review)
paper: JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE (Basel : MDPI AG, 2014-) pp. - - issn: 2308-3425 - wos: WOS:001172243200001 (1) - scopus: 2-s2.0-85185908109 (2)

11573/1726740 - 2024 - Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients
Strafella, Claudia; Megalizzi, Domenica; Trastulli, Giulia; Proietti Piorgo, Emma; Colantoni, Luca; Tasca, Giorgio; Monforte, Mauro; Zampatti, Stefania; Primiano, Guido; Sancricca, Cristina; Bortolani, Sara; Torchia, Eleonora; Ravera, Beatrice; Torri, Francesca; Gadaleta, Giulio; Risi, Barbara; Caria, Filomena; Gerardi, Francesca; Carraro, Elena; Gioiosa, Valeria; Garibaldi, Matteo; Tufano, Laura; Frezza, Erica; Massa, Roberto; Caltagirone, Carlo; Pennisi, Elena Maria; Petrucci, Antonio; Pane, Marika; Frongia, Annalia; Gragnani, Francesca; Scutifero, Marianna; Mandich, Paola; Grandis, Marina; Maioli, Maria Antonietta; Casali, Carlo; Manfroi, Elisabetta; Politano, Luisa; Passamano, Luigia; Petillo, Roberta; Rodolico, Carmelo; Pugliese, Alessia; Previtali, Stefano Carlo; Sansone, Valeria; Vercelli, Liliana; Mongini, Tiziana Enrica; Ricci, Giulia; Siciliano, Gabriele; Filosto, Massimiliano; Ricci, Enzo; Cascella, Raffaella; Giardina, Emiliano - 01a Articolo in rivista
paper: CLINICAL EPIGENETICS (Berlin : Springer) pp. - - issn: 1868-7083 - wos: WOS:001340331500001 (0) - scopus: 2-s2.0-85207204219 (0)

11573/1720888 - 2024 - The effect of a wearable assistive trunk exoskeleton on the motor coordination of people with cerebellar ataxia
Tatarelli, Antonella; Babič, Jan; Casali, Carlo; Castiglia, Stefano Filippo; Chini, Giorgia; Ciancia, Rosanna; Cioffi, Ettore; Fiori, Lorenzo; Michieli, Mariagrazia; Montante, Barbara; Serrao, Mariano; Varrecchia, Tiwana; Ranavolo, Alberto - 01a Articolo in rivista
paper: APPLIED SCIENCES (Basel: MDPI AG, 2011-) pp. - - issn: 2076-3417 - wos: WOS:001287080900001 (0) - scopus: 2-s2.0-85200845560 (1)

11573/1712216 - 2024 - Optimizing Rare Disease Gait Classification through Data Balancing and Generative AI: Insights from Hereditary Cerebellar Ataxia
Trabassi, D.; Castiglia, S. F.; Bini, F.; Marinozzi, F.; Ajoudani, A.; Lorenzini, M.; Chini, G.; Varrecchia, T.; Ranavolo, A.; De Icco, R.; Casali, C.; Serrao, M. - 01a Articolo in rivista
paper: SENSORS (Basel : Molecular Diversity Preservation International (MDPI), 2001-) pp. - - issn: 1424-8220 - wos: WOS:001245583900001 (1) - scopus: 2-s2.0-85195858883 (1)

11573/1606425 - 2023 - Identification of gait unbalance and fallers among subjects with cerebellar ataxia by a set of trunk acceleration-derived indices of gait
Castiglia, Stefano Filippo; Trabassi, Dante; Tatarelli, Antonella; Ranavolo, Alberto; Varrecchia, Tiwana; Fiori, Lorenzo; Di Lenola, Davide; Cioffi, Ettore; Raju, Manikandan; Coppola, Gianluca; Caliandro, Pietro; Casali, Carlo; Serrao, Mariano - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. - - issn: 1473-4222 - wos: WOS:000746782400001 (19) - scopus: 2-s2.0-85123493466 (15)

11573/1690068 - 2023 - Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hübsch, Tanja; Doss, Sarah; Van Velzen, Gijs A J; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Van De Warrenburg, Bart; Schöls, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra - 01a Articolo in rivista
paper: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 1098-1109 - issn: 0002-9297 - wos: WOS:001039665400001 (9) - scopus: 2-s2.0-85163408235 (11)

11573/1617399 - 2022 - Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations
De Michele, G.; Galatolo, D.; Galosi, S.; Mignarri, A.; Silvestri, G.; Casali, C.; Leuzzi, V.; Ricca, I.; Barghigiani, M.; Tessa, A.; Cioffi, E.; Caputi, C.; Riso, V.; Dotti, M. T.; Sacca, F.; De Michele, G.; Cocozza, S.; Filla, A.; Santorelli, F. M. - 01a Articolo in rivista
paper: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 1476-1484 - issn: 0340-5354 - wos: WOS:000675768200002 (5) - scopus: 2-s2.0-85111109016 (6)

11573/1638837 - 2022 - Safety and feasibility of upper limb cardiopulmonary exercise test in Friedreich ataxia
Pane, C.; Salzano, A.; Trinchillo, A.; Del Prete, C.; Casali, C.; Marcotulli, C.; Defazio, G.; Guardasole, V.; Vastarella, R.; Giallauria, F.; Puorro, G.; Marsili, A.; De Michele, G.; Filla, A.; Cittadini, A.; Sacca, F. - 01a Articolo in rivista
paper: EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY (London : SAGE PUBLICATIONS LTD,) pp. 445-451 - issn: 2047-4873 - wos: WOS:000774209600018 (4) - scopus: 2-s2.0-85106918602 (4)

11573/1638880 - 2022 - Hsa-miR223-3p circulating level is upregulated in Friedreich???s ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1
Quatrana, Andrea; Morini, Elena; Tiano, Francesca; Vancheri, Chiara; Panarello, Luca; Romano, Silvia; Marcotulli, Christian; Casali, Carlo; Mariotti, Caterina; Mongelli, Alessia; Fichera, Mario; Rufini, Alessandra; Cond??, Ivano; Novelli, Giuseppe; Testi, Roberto; Amati, Francesca; Malisan, Florence - 01a Articolo in rivista
paper: HUMAN MOLECULAR GENETICS (Oxford University Press:Journals Department, Great Clarendon Street, Oxford OX2 6DP United Kingdom:011 44 1865 556767, EMAIL: jnlorders@oup.co.uk, INTERNET: http://www.oup.co.uk, Fax: 011 44 1865 267485) pp. - - issn: 0964-6906 - wos: WOS:000792348900001 (0) - scopus: 2-s2.0-85133144399 (0)

11573/1643772 - 2022 - A clinical and epidemiological prevalence study on Friedreich’s Ataxia in Latium, Italy
Romano, Silvia; Bacigalupo, Ilaria; Marcotulli, C.; Cioffi, Ettore; Silvio Bertini, Enrico; Vasco, Gessica; Perna, Alessia; Petrucci, Antonio; Massa, Roberto; Frezza, Erica; Romano, Carmela; Salvetti, Marco; Ristori, Giovanni; Silvestri, Gabriella; Vanacore, Nicola; Casali, C. - 01a Articolo in rivista
paper: NEUROEPIDEMIOLOGY (S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. - - issn: 0251-5350 - wos: WOS:000889072800009 (0) - scopus: 2-s2.0-85135597126 (0)

11573/1638884 - 2022 - Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network
Rossi, S.; Rubegni, A.; Riso, V.; Barghigiani, M.; Bassi, M. T.; Battini, R.; Bertini, E.; Cereda, C.; Cioffi, E.; Criscuolo, C.; Dal Fabbro, B.; Dato, C.; D'angelo, M. G.; Di Muzio, A.; Diamanti, L.; Dotti, M. T.; Filla, A.; Gioiosa, V.; Liguori, R.; Martinuzzi, A.; Massa, R.; Mignarri, A.; Moroni, R.; Musumeci, O.; Nicita, F.; Orologio, I.; Orsi, L.; Pegoraro, E.; Petrucci, A.; Plumari, M.; Ricca, I.; Rizzo, G.; Romano, S.; Rumore, R.; Sampaolo, S.; Scarlato, M.; Seri, M.; Stefan, C.; Straccia, G.; Tessa, A.; Travaglini, L.; Trovato, R.; Ulgheri, L.; Vazza, G.; Orlacchio, A.; Silvestri, G.; Santorelli, F. M.; Melone, M. A. B.; Casali, C. - 01a Articolo in rivista
paper: NEUROLOGY. GENETICS (Philadelphia, PA : Wolters Kluwer/Lippincott Williams & Wilkins, 2015-) pp. 664-677 - issn: 2376-7839 - wos: WOS:000779091600009 (9) - scopus: 2-s2.0-85129284773 (8)

11573/1619821 - 2022 - Monoallelic KIF1A‑related disorders: a multicenter cross sectional study and systematic literature review
Vecchia, S. D.; Tessa, A.; Dosi, C.; Baldacci, J.; Pasquariello, R.; Antenora, A.; Astrea, G.; Bassi, M. T.; Battini, R.; Casali, C.; Cioffi, E.; Conti, G.; De Michele, G.; Ferrari, A. R.; Filla, A.; Fiorillo, C.; Fusco, C.; Gallone, S.; Germiniasi, C.; Guerrini, R.; Haggiag, S.; Lopergolo, D.; Martinuzzi, A.; Melani, F.; Mignarri, A.; Panzeri, E.; Pini, A.; Pinto, A. M.; Pochiero, F.; Primiano, G.; Procopio, E.; Renieri, A.; Romaniello, R.; Sancricca, C.; Servidei, S.; Spagnoli, C.; Ticci, C.; Rubegni, A.; Santorelli, F. M. - 01a Articolo in rivista
paper: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 437-450 - issn: 0340-5354 - wos: WOS:000692953000001 (14) - scopus: 2-s2.0-85114368822 (12)

11573/1671841 - 2022 - Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia
Ziccardi, Lucia; Barbano, Lucilla; Antonelli, Giulio; Cioffi, Ettore; Di Renzo, Antonio; Gioiosa, Valeria; Marcotulli, Christian; Grzybowski, Andrzej; Casali, Carlo; Parisi, Vincenzo - 01a Articolo in rivista
paper: DIAGNOSTICS (Basel: MDPI) pp. 3135- - issn: 2075-4418 - wos: WOS:000900567700001 (0) - scopus: 2-s2.0-85144858297 (0)

11573/1619823 - 2021 - Roussy-Lévy Syndrome: a case of genotype-fenotype correlation
Cioffi, E; Gioiosa, Valeria; Serrao, Mariano; Casali, Carlo - 01f Lettera, Nota
paper: NEUROLOGICAL SCIENCES (Springer-Verlag Italia Srl:via Decembrio 28, 20137 Milan Italy:011 39 2 5425971, EMAIL: riccardi@springer.it, Fax: 011 39 2 55193360) pp. 4357-4358 - issn: 1590-3478 - wos: WOS:000671711600001 (0) - scopus: 2-s2.0-85109636544 (0)

11573/1605451 - 2021 - NGS in hereditay ataxia: when rare becomes frequent
Galatolo, Daniele; De Michele, Giovanna; Silvestri, Gabriella; Leuzzi, Vincenzo; Casali, Carlo; Musumeci, Olimpia; Antenora, Antnella; Astrea, Guja; Barghigiani, Melissa; Battini, Roberta; Battisti, Carla; Caputi, Caterina; Cioffi, Ettore; De Michele, Giuseppe; Teresa Dotti, Maria; Fico, Tommasina; Fiorillo, Chiara; Galosi, Serena; Lieto, Maria; Malandrini, Alessandro; Melone, Marina A. B.; Mignarri, Andrea; Natale, Gemma; Pegoraro, Elena; Petrucci, Antonio; Ricca, Ivana; Riso, Vittorio; Rossi, Salvatore; Rubegni, Anna; Scarlatti, Arianna; Tinelli, Francesca; Trovato, Rosanna; Tedeschi, Gioacchino; Tessa, Alessandra; Filla, Alessandro; Maria Santorelli, Filippo - 01a Articolo in rivista
paper: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel (Matthaeustrasse 11) : Molecular Diversity Preservation International MDPI) pp. - - issn: 1661-6596 - wos: WOS:000690555200001 (18) - scopus: 2-s2.0-85111907905 (18)

11573/1549526 - 2021 - Attrv in lazio-italy: A high-prevalence region in a non-endemic country
Luigetti, M.; Guglielmino, V.; Antonini, G.; Casali, C.; Ceccanti, M.; Chiappini, M. G.; De Giglio, L.; Di Lazzaro, V.; Di Muzio, A.; Goglia, M.; Inghilleri, M.; Leonardi, L.; Massa, R.; Pennisi, E. M.; Petrucci, A.; Proietti, E.; Rispoli, M.; Sabatelli, M.; Di Girolamo, M. - 01a Articolo in rivista
paper: GENES (Basel : Molecular Diversity Preservation International) pp. 829- - issn: 2073-4425 - wos: WOS:000666306600001 (11) - scopus: 2-s2.0-85107397133 (11)

11573/1544301 - 2021 - A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21
Riso, V.; Galatolo, D.; Barghigiani, M.; Galosi, S.; Tessa, A.; Ricca, I.; Rossi, S.; Caputi, C.; Cioffi, E.; Leuzzi, V.; Casali, C.; Santorelli, F. M.; Silvestri, G. - 01a Articolo in rivista
paper: EUROPEAN JOURNAL OF NEUROLOGY (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 2784-2788 - issn: 1351-5101 - wos: WOS:000655112200001 (10) - scopus: 2-s2.0-85106581217 (9)

11573/1619819 - 2021 - Macular morpho‐functional and visual pathways functional assessment in patients with spinocerebellar type 1 ataxia with or without neurological signs
Ziccardi, L.; Cioffi, E.; Barbano, L.; Gioiosa, V.; Falsini, B.; Casali, C.; Parisi, V. - 01a Articolo in rivista
paper: JOURNAL OF CLINICAL MEDICINE (MDPI Publishing, Basel, Switzerland) pp. 5271- - issn: 2077-0383 - wos: WOS:000725402800001 (6) - scopus: 2-s2.0-85118894178 (8)

11573/1638807 - 2020 - Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Clinical long-term follow-up and pathogenic implications
D'angelo, R.; Boschetti, E.; Amore, G.; Costa, R.; Pugliese, A.; Caporali, L.; Gramegna, L. L.; Papa, V.; Vizioli, L.; Capristo, M.; Contin, M.; Mohamed, S.; Cenacchi, G.; Lodi, R.; Morelli, M. C.; Fasano, L.; Pisani, L.; Cescon, M.; Tonon, C.; Pinna, A. D.; Dotti, M. T.; Sicurelli, F.; Scarpelli, M.; Filosto, M.; Casali, C.; Pironi, L.; Carelli, V.; De Giorgio, R.; Rinaldi, R. - 01a Articolo in rivista
paper: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 3702-3710 - issn: 0340-5354 - wos: WOS:000549793600001 (12) - scopus: 2-s2.0-85088097701 (16)

11573/1402768 - 2020 - Impairment of Global Lower Limb Muscle Coactivation During Walking in Cerebellar Ataxias
Fiori, L.; Ranavolo, A.; Varrecchia, T.; Tatarelli, A.; Conte, C.; Draicchio, F.; Castiglia, S. F.; Coppola, G.; Casali, C.; Pierelli, F.; Serrao, M. - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. - - issn: 1473-4222 - wos: WOS:000533027600002 (12) - scopus: 2-s2.0-85084844943 (14)

11573/1638827 - 2020 - Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA). A longitudinal cohort study
Jacobi, H.; Du Montcel, S. T.; Romanzetti, S.; Harmuth, F.; Mariotti, C.; Nanetti, L.; Rakowicz, M.; Makowicz, G.; Durr, A.; Monin, M. -L.; Filla, A.; Roca, A.; Schols, L.; Hengel, H.; Infante, J.; Kang, J. -S.; Timmann, D.; Casali, C.; Masciullo, M.; Baliko, L.; Melegh, B.; Nachbauer, W.; Burk-Gergs, K.; Schulz, J. B.; Riess, O.; Reetz, K.; Klockgether, T. - 01a Articolo in rivista
paper: LANCET NEUROLOGY (Lancet Publishing Group) pp. 738-747 - issn: 1474-4422 - wos: WOS:000562556500016 (36) - scopus: 2-s2.0-85089552495 (38)

11573/1638822 - 2020 - Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias. A frequent cause of predominant cognitive impairment
Roux, T.; Barbier, M.; Papin, M.; Davoine, C. -S.; Sayah, S.; Coarelli, G.; Charles, P.; Marelli, C.; Parodi, L.; Tranchant, C.; Goizet, C.; Klebe, S.; Lohmann, E.; Van Maldergen, L.; Van Broeckhoven, C.; Coutelier, M.; Tesson, C.; Stevanin, G.; Duyckaerts, C.; Brice, A.; Durr, A.; Durr, A.; Stevanin, G.; Brice, A.; Darios, F.; Forlani, S.; Site, P. -S.; Banneau, G.; Cazeneuve, C.; Charles, P.; Duyckaerts, C.; Fontaine, B.; Azulay, J. -P.; Boesfplug-Tanguy, O.; Goizet, C.; Hannequin, D.; Hazan, J.; Burgo, A.; Verny, C.; Koenig, M.; Labauge, P.; Marelli, C.; N'guyen, K.; Rodriguez, D.; Belarbi, S.; Hamri, A.; Tazir, M.; Boesch, S.; Pandolfo, M.; Laura, J.; Guergueltcheva, V.; Tournev, I.; Pedraza Linares, O. L.; Nielsen, J. E.; Svenstrup, K.; Zaki, M.; Bauer, P.; Schols, L.; Schule, R.; Lossos, A.; Bassi, M. -T.; Basso, M.; Bertini, E.; Brusco, A.; Casali, C.; Casari, G.; Criscuolo, C.; Filla, A.; Orsi, L.; Santorelli, F. M.; Valente, E. M.; Vavla, M.; Vazza, G.; Megarbane, A.; Benomar, A.; Kremer, B.; Van Roon-Mom, W.; Roxburgh, R.; Erichsen, A. K.; Tallaksen, C.; Alonso, I.; Coutinho, P.; Loureiro, J. L.; Sequeiros, J.; Salih, M.; Kostic, V. S.; Rouco Axpe, I.; Elsayed, L.; Paucar, M. A.; Roumani, S.; Bing-Wen, S.; Reid, E.; Suran, N.; Warner, T.; Wood, N. - 01a Articolo in rivista
paper: GENETICS IN MEDICINE (New York: Elsevier Baltimore MD: Williams & Wilkins) pp. 1851-1862 - issn: 1098-3600 - wos: WOS:000553063200001 (28) - scopus: 2-s2.0-85088563670 (34)

11573/1638831 - 2020 - Spastin recovery in hereditary spastic paraplegia by preventing neddylation-dependent degradation
Sardina, F.; Pisciottani, A.; Ferrara, M.; Valente, D.; Casella, M.; Crescenzi, M.; Peschiaroli, A.; Casali, C.; Soddu, S.; Grierson, A. J.; Rinaldo, C. - 01a Articolo in rivista
paper: LIFE SCIENCE ALLIANCE ([Woodbury NY]: Life Science Alliance LLC, [2018]-) pp. 1-14 - issn: 2575-1077 - wos: WOS:000605257400006 (15) - scopus: 2-s2.0-85094848138 (14)

11573/1381149 - 2020 - Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival
Tiano, Francesca; Amati, Francesca; Cherubini, Fabio; Morini, Elena; Vancheri, Chiara; Maletta, Sara; Fortuni, Silvia; Serio, Dario; Quatrana, Andrea; Luffarelli, Riccardo; Benini, Monica; Alfedi, Giulia; Panarello, Luca; Rufini, Alessandra; Toschi, Nicola; Frontali, Marina; Romano, Silvia; Marcotulli, Christian; Casali, Carlo; Gioiosa, Silvia; Mariotti, Caterina; Mongelli, Alessia; Fichera, Mario; Condò, Ivano; Novelli, Giuseppe; Testi, Roberto; Malisan, Florence - 01a Articolo in rivista
paper: HUMAN MOLECULAR GENETICS ONLINE (Oxford: Oxford University Press.) pp. 471-482 - issn: 1460-2083 - wos: WOS:000515111000010 (7) - scopus: 2-s2.0-85079355808 (8)

11573/1473261 - 2019 - Locomotor coordination in patients with hereditary spastic paraplegia
Martino, G.; Ivanenko, Y.; Serrao, M.; Ranavolo, A.; Draicchio, F.; Casali, C.; Lacquaniti, F. - 01a Articolo in rivista
paper: JOURNAL OF ELECTROMYOGRAPHY AND KINESIOLOGY (-New York, N.Y.: Raven Press. Oxford, United Kingdom: Butterworth Heinemann Publishers) pp. 61-69 - issn: 1050-6411 - wos: WOS:000460388800009 (21) - scopus: 2-s2.0-85062238119 (21)

11573/1473268 - 2019 - The working life of people with degenerative cerebellar ataxia
Ranavolo, A; Serrao, M; Varrecchia, T; Casali, C; Filla, A; Roca, A; Silvetti, A; Marcotulli, C; Rondinone, B M; Iavicoli, S; Draicchio, F - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. 910-921 - issn: 1473-4230 - wos: WOS:000487811100009 (10) - scopus: 2-s2.0-85072046383 (9)

11573/1638797 - 2018 - Next generation molecular diagnosis of hereditary spastic paraplegias: an italian cross-sectional study
D'amore, A.; Tessa, A.; Casali, C.; Dotti, M. T.; Filla, A.; Silvestri, G.; Antenora, A.; Astrea, G.; Barghigiani, M.; Battini, R.; Battisti, C.; Bruno, I.; Cereda, C.; Dato, C.; Di Iorio, G.; Donadio, V.; Felicori, M.; Fini, N.; Fiorillo, C.; Gallone, S.; Gemignani, F.; Gigli, G. L.; Graziano, C.; Guerrini, R.; Gurrieri, F.; Kariminejad, A.; Lieto, M.; Marques Lourenco, C.; Malandrini, A.; Mandich, P.; Marcotulli, C.; Mari, F.; Massacesi, L.; Melone, M. A. B.; Mignarri, A.; Milone, R.; Musumeci, O.; Pegoraro, E.; Perna, A.; Petrucci, A.; Pini, A.; Pochiero, F.; Pons, M. R.; Ricca, I.; Rossi, S.; Seri, M.; Stanzial, F.; Tinelli, F.; Toscano, A.; Valente, M.; Federico, A.; Rubegni, A.; Santorelli, F. M. - 01a Articolo in rivista
paper: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. 1-13 - issn: 1664-2295 - wos: WOS:000452086700001 (64) - scopus: 2-s2.0-85065831016 (65)

11573/1118407 - 2018 - Cerebral mitochondrial microangiopathy leads to leukoencephalopathy in mitochondrial neurogastrointestinal encephalopathy
Gramegna, L. L.; Pisano, A.; Testa, C.; Manners, D. N.; D'angelo, R.; Boschetti, E.; Giancola, F.; Pironi, L.; Caporali, L.; Capristo, M.; Valentino, M. L.; Plazzi, G.; Casali, C.; Dotti, M. T.; Cenacchi, G.; Hirano, M.; Giordano, C.; Parchi, P.; Rinaldi, R.; De Giorgio, R.; Lodi, R.; Carelli, V.; Tonon, C. - 01a Articolo in rivista
paper: AJNR, AMERICAN JOURNAL OF NEURORADIOLOGY (American Society of Neuroradiology:2210 Midwest Road, Suite 850:Oak Brook, IL 60521:(630)574-0220) pp. 427-434 - issn: 0195-6108 - wos: WOS:000429272400010 (17) - scopus: 2-s2.0-85043698154 (18)

11573/1090151 - 2018 - Differential changes in the spinal segmental locomotor output in Hereditary Spastic Paraplegia
Martino, G.; Ivanenko, Y.; Serrao, M.; Ranavolo, A.; Draicchio, F.; Rinaldi, Martina; Casali, C.; Lacquaniti, F. - 01a Articolo in rivista
paper: CLINICAL NEUROPHYSIOLOGY (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114) pp. 516-525 - issn: 1388-2457 - wos: WOS:000425876800002 (12) - scopus: 2-s2.0-85041452814 (12)

11573/1473295 - 2018 - Neurophysiology of gait
Serrao, M.; Ranavolo, A.; Casali, C. - 02a Capitolo o Articolo
book: Handbook of Clinical Neurology - (9780444639561)

11573/1019502 - 2018 - Identification of specific gait patterns in patients with cerebellar ataxia, spastic paraplegia, and Parkinson's disease. A non-hierarchical cluster analysis
Serrao, Mariano; Chini, Giorgia; Bergantino, Matteo; Sarnari, Diego; Casali, Carlo; Conte, Carmela; Ranavolo, Alberto; Marcotulli, Christian; Rinaldi, Martina; Coppola, Gianluca; Bini, Fabiano; Pierelli, Francesco; Marinozzi, Franco - 01a Articolo in rivista
paper: HUMAN MOVEMENT SCIENCE (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 267-279 - issn: 0167-9457 - wos: WOS:000425482700027 (27) - scopus: 2-s2.0-85030157306 (39)

11573/1054313 - 2018 - Dataset on gait patterns in degenerative neurological diseases
Serrao, Mariano; Chini, Giorgia; Bergantino, Matteo; Sarnari, Diego; Casali, Carlo; Conte, Carmela; Ranavolo, Alberto; Marcotulli, Christian; Rinaldi, Martina; Coppola, Gianluca; Bini, Fabiano; Pierelli, Francesco; Marinozzi, Franco - 01a Articolo in rivista
paper: DATA IN BRIEF (New York : Elsevier Inc.) pp. 806-816 - issn: 2352-3409 - wos: WOS:000449758500108 (10) - scopus: 2-s2.0-85038887057 (12)

11573/900622 - 2017 - Long term clinical and neurophysiological effects of cerebellar transcranial direct current stimulation in patients with neurodegenerative ataxia
Benussi, Alberto; Dell'era, Valentina; Cotelli, Maria Sofia; Turla, Marinella; Casali, Carlo; Padovani, Alessandro; Borroni, Barbara - 01a Articolo in rivista
paper: BRAIN STIMULATION (Amsterdam, Oxford : Elsevier, 2008-) pp. 207-218 - issn: 1935-861X - wos: WOS:000395841800007 (61) - scopus: 2-s2.0-85013498413 (68)

11573/1019506 - 2017 - Trunk-lower limb coordination pattern during gait in patients with ataxia
Caliandro, Pietro; Iacovelli, Chiara; Conte, Carmela; Simbolotti, Chiara; Rossini, Paolo M.; Padua, Luca; Casali, Carlo; Pierelli, Francesco; Reale, Giuseppe; Serrao, Mariano - 01a Articolo in rivista
paper: GAIT & POSTURE (editore attuale: ELSEVIER SCI IRELAND LTD, CUSTOMER RELATIONS MANAGER, BAY 15, SHANNON INDUSTRIAL ESTATE CO, CLARE, IRELAND Butterworth Heinemann Publishers:Linacre House Jordan Hill, Oxford OX2 8DP United Kingdom:011 44 1865 314569, EMAIL: bhmarketing@repp.co.uk, INTERNET: http://www.laxtonsprices.co.uk, Fax: 011 44 1865 314569) pp. 252-257 - issn: 0966-6362 - wos: WOS:000407664100043 (13) - scopus: 2-s2.0-85021645663 (17)

11573/908618 - 2017 - Local stability of the trunk in patients with degenerative cerebellar ataxia during walking
Chini, Giorgia; Ranavolo, Alberto; Draicchio, Francesco; Casali, Carlo; Conte, Carmela; Martino, Giovanni; Leonardi, Luca; Padua, Luca; Coppola, Gianluca; Pierelli, Francesco; Serrao, Mariano - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. 26-33 - issn: 1473-4222 - wos: WOS:000393586100003 (32) - scopus: 2-s2.0-84955302483 (41)

11573/957180 - 2017 - A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias. A pilot open-labeled study
Leonardi, Luca; Aceto, Maria Gabriella; Marcotulli, Christian; Arcuria, Giuseppe; Serrao, Mariano; Pierelli, Francesco; Paone, Paolo; Filla, Alessandro; Roca, Alessandro; Casali, Carlo - 01a Articolo in rivista
paper: NEUROLOGICAL SCIENCES (-Springer-Verlag Italia -Masson SPA:via Flli Bressan 2, I 20126 Milan Italy:011 39 02 27074286, EMAIL: aboonamenti@masson.it, INTERNET: http://www.masson.it, Fax: 011 39 02 27074210) pp. 459-463 - issn: 1590-1874 - wos: WOS:000395118500011 (22) - scopus: 2-s2.0-85007499682 (21)

11573/957140 - 2017 - Stability of erythropoietin repackaging in polypropylene syringes for clinical use
Marsili, Angela; Puorro, Giorgia; Pane, Chiara; De Rosa, Anna; Defazio, Giovanni; Casali, Carlo; Cittadini, Antonio; De Michele, Giuseppe; Florio, Brunello Ettore; Filla, Alessandro; Saccà, Francesco - 01a Articolo in rivista
paper: SAUDI PHARMACEUTICAL JOURNAL (Riyaḍ: Saudi Pharmaceutical Society.) pp. 290-293 - issn: 1319-0164 - wos: WOS:000396406300017 (2) - scopus: 2-s2.0-84964380924 (2)

11573/1005217 - 2017 - Increased lower limb muscle coactivation reduces gait performance and increases metabolic cost in patients with hereditary spastic paraparesis
Rinaldi, Martina; Ranavolo, Alberto; Conforto, Silvia; Martino, Giovanni; Draicchio, Francesco; Conte, Carmela; Varrecchia, Tiwana; Bini, Fabiano; Casali, Carlo; Pierelli, Francesco; Serrao, Mariano - 01a Articolo in rivista
paper: CLINICAL BIOMECHANICS (Butterworth Heinemann Publishers:Linacre House Jordan Hill, Oxford OX2 8DP United Kingdom:011 44 1865 314569, EMAIL: bhmarketing@repp.co.uk, INTERNET: http://www.laxtonsprices.co.uk, Fax: 011 44 1865 314569) pp. 63-72 - issn: 0268-0033 - wos: WOS:000412616700010 (41) - scopus: 2-s2.0-85026531169 (42)

11573/1019499 - 2017 - Use of dynamic movement orthoses to improve gait stability and trunk control in ataxic patients
Serrao, Mariano; Casali, Carlo; Ranavolo, Alberto; Mari, Silvia; Conte, Carmela; Chini, Giorgia; Leonardi, Luca; Coppola, Gianluca; Di Lorenzo, Cherubino; Harfoush, Mahmoud; Padua, Luca; Pierelli, Francesco - 01a Articolo in rivista
paper: EUROPEAN JOURNAL OF PHYSICAL AND REHABILITATION MEDICINE (Torino : Minerva Medica) pp. 735-743 - issn: 1973-9095 - wos: WOS:000416359500012 (17) - scopus: 2-s2.0-85049899969 (16)

11573/957517 - 2017 - Progression of gait ataxia in patients with degenerative cerebellar disorders. A 4-year follow-up study
Serrao, Mariano; Chini, Giorgia; Casali, Carlo; Conte, Carmela; Rinaldi, Martina; Ranavolo, Alberto; Marcotulli, Christian; Leonardi, Luca; Fragiotta, Gaia; Bini, Fabiano; Coppola, Gianluca; Pierelli, Francesco - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. 629-637 - issn: 1473-4222 - wos: WOS:000401509000003 (31) - scopus: 2-s2.0-85001575099 (40)

11573/1005219 - 2017 - Harmony as a convergence attractor that minimizes the energy expenditure and variability in physiological gait and the loss of harmony in cerebellar ataxia
Serrao, Mariano; Chini, Giorgia; Iosa, Marco; Casali, Carlo; Morone, Giovanni; Conte, Carmela; Bini, Fabiano; Marinozzi, Franco; Coppola, Gianluca; Pierelli, Francesco; Draicchio, Francesco; Ranavolo, Alberto - 01a Articolo in rivista
paper: CLINICAL BIOMECHANICS (Butterworth Heinemann Publishers:Linacre House Jordan Hill, Oxford OX2 8DP United Kingdom:011 44 1865 314569, EMAIL: bhmarketing@repp.co.uk, INTERNET: http://www.laxtonsprices.co.uk, Fax: 011 44 1865 314569) pp. 15-23 - issn: 0268-0033 - wos: WOS:000412616700003 (39) - scopus: 2-s2.0-85021908079 (47)

11573/841123 - 2016 - Consensus paper. Revisiting the symptoms and signs of cerebellar syndrome
Bodranghien, Florian; Bastian, Amy; Casali, Carlo; Hallett, Mark; Louis, Elan D.; Manto, Mario; Mariën, Peter; Nowak, Dennis A.; Schmahmann, Jeremy D.; Serrao, Mariano; Steiner, Katharina Marie; Strupp, Michael; Tilikete, Caroline; Timmann, Dagmar; Van Dun, Kim - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. 369-391 - issn: 1473-4222 - wos: WOS:000375087600015 (236) - scopus: 2-s2.0-84932167165 (274)

11573/957710 - 2016 - ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy
D’Angelo, Roberto; Rinaldi, Rita; Carelli, Valerio; Boschetti, Elisa; Caporali, Leonardo; Capristo, Mariantonietta; Casali, Carlo; Cenacchi, Giovanna; Gramegna, Laura Ludovica; Lodi, Raffaele; Pinna, Antonio Daniele; Pironi, Loris; Stanzani, Marta; Tonon, Caterina; D’Alessandro, Roberto; De Giorgio, Roberto - 01a Articolo in rivista
paper: NEUROLOGICAL SCIENCES (-Springer-Verlag Italia -Masson SPA:via Flli Bressan 2, I 20126 Milan Italy:011 39 02 27074286, EMAIL: aboonamenti@masson.it, INTERNET: http://www.masson.it, Fax: 011 39 02 27074210) pp. 1149-1151 - issn: 1590-1874 - wos: WOS:000378891200019 (14) - scopus: 2-s2.0-84961845544 (15)

11573/900643 - 2016 - Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy
De Giorgio, Roberto; Pironi, Loris; Rinaldi, Rita; Boschetti, Elisa; Caporali, Leonardo; Capristo, Mariantonietta; Casali, Carlo; Cenacchi, Giovanna; Contin, Manuela; D'angelo, Roberto; D'errico, Antonietta; Gramegna, Laura Ludovica; Lodi, Raffaele; Maresca, Alessandra; Mohamed, Susan; Morelli, Maria Cristina; Papa, Valentina; Tonon, Caterina; Tugnoli, Vitaliano; Carelli, Valerio; D'alessandro, Roberto; Pinna, Antonio Daniele - 01a Articolo in rivista
paper: ANNALS OF NEUROLOGY (-attuale: WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 448-455 - issn: 0364-5134 - wos: WOS:000384018200015 (63) - scopus: 2-s2.0-84985993282 (80)

11573/900653 - 2016 - Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions
Denora, Paola S.; Smets, Katrien; Zolfanelli, Federica; Groote, Chantal Ceuterick De; Casali, Carlo; Deconinck, Tine; Sieben, Anne; Gonzales, Michael; Zuchner, Stephan; Darios, Frederic; Peeters, Dirk; Brice, Alexis; Malandrini, Alessandro; De Jonghe, Peter; Santorelli, Filippo M.; Stevanin, Giovanni; Martin, Jean Jacques; El Hachimi, Khalid H. - 01a Articolo in rivista
paper: BRAIN (-Oxford: Oxford University Press -Oxford: Clarendon Press -London: Macmillan -London: Butterworths Scientific Publications, 1878-) pp. 1723-1734 - issn: 0006-8950 - wos: WOS:000377430200020 (42) - scopus: 2-s2.0-84978852397 (48)

11573/895358 - 2016 - Spinocerebellar ataxia type 3 in Italy. time to change mind
Leonardi, Luca; Marcotulli, Christian; Storti, Eugenia; Tessa, Alessandra; Serrao, Mariano; Longobardi, Antonino; Romano, Silvia; Ristori, Giovanni; Santorelli, Filippo Maria; Pierelli, Francesco; Casali, Carlo - 01f Lettera, Nota
paper: NEUROEPIDEMIOLOGY (S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 268-268 - issn: 0251-5350 - wos: WOS:000376812100007 (0) - scopus: 2-s2.0-84961392834 (0)

11573/912945 - 2016 - Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family
Leonardi, Luca; Ziccardi, Lucia; Marcotulli, Christian; Rubegni, Anna; Longobardi, Antonino; Serrao, Mariano; Storti, Eugenia; Pierelli, Francesco; Tessa, Alessandra; Parisi, Vincenzo; Santorelli, Filippo Maria; Casali, Carlo - 01a Articolo in rivista
paper: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 781-783 - issn: 0340-5354 - wos: WOS:000373742600021 (19) - scopus: 2-s2.0-84962753609 (23)

11573/957600 - 2016 - Long-term effect of epoetin alfa on clinical and biochemical markers in friedreich ataxia
Saccà, Francesco; Puorro, Giorgia; Marsili, Angela; Antenora, Antonella; Pane, Chiara; Casali, Carlo; Marcotulli, Christian; Defazio, Giovanni; Liuzzi, Daniele; Tatillo, Chiara; Cambriglia, Donata Maria; Schiano Di Cola, Giuseppe; Giuliani, Luigi; Guardasole, Vincenzo; Salzano, Andrea; Ruvolo, Antonio; De Rosa, Anna; Cittadini, Antonio; De Michele, Giuseppe; Filla, Alessandro - 01a Articolo in rivista
paper: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 734-741 - issn: 0885-3185 - wos: WOS:000375939500020 (24) - scopus: 2-s2.0-84959378259 (28)

11573/895783 - 2016 - Gait patterns in patients with hereditary spastic paraparesis
Serrao, Mariano; Rinaldi, Martina; Ranavolo, Alberto; Lacquaniti, Francesco; Martino, Giovanni; Leonardi, Luca; Conte, Carmela; Varrecchia, Tiwana; Draicchio, Francesco; Coppola, Gianluca; Casali, Carlo; Pierelli, Francesco - 01a Articolo in rivista
paper: PLOS ONE (San Francisco, CA : Public Library of Science) pp. e0164623- - issn: 1932-6203 - wos: WOS:000385505300069 (42) - scopus: 2-s2.0-84991457465 (41)

11573/868312 - 2016 - An age standardized prevalence estimate and a sex and age distribution of myotonic dystrophy types 1 and 2 in the Rome province, Italy
Vanacore, Nicola; Rastelli, Emanuele; Antonini, Giovanni; Bianchi, Maria Laura Ester; Botta, Annalisa; Bucci, Elisabetta; Casali, Carlo; Costanzi Porrini, Sandro; Giacanelli, Manlio; Gibellini, Manuela; Modoni, Anna; Novelli, Giuseppe; Pennisi, Elena Maria; Petrucci, Antonio; Piantadosi, Carlo; Silvestri, Gabriella; Terracciano, Chiara; Massa, Roberto - 01a Articolo in rivista
paper: NEUROEPIDEMIOLOGY (S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 191-197 - issn: 0251-5350 - wos: WOS:000373864300006 (32) - scopus: 2-s2.0-84958818835 (34)

11573/856531 - 2015 - De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling
Leonardi, Luca; Marcotulli, Christian; Santorelli, Filippo M.; Tessa, Alessandra; Casali, Carlo - 01a Articolo in rivista
paper: NEUROLOGICAL SCIENCES (-Springer-Verlag Italia -Masson SPA:via Flli Bressan 2, I 20126 Milan Italy:011 39 02 27074286, EMAIL: aboonamenti@masson.it, INTERNET: http://www.masson.it, Fax: 011 39 02 27074210) pp. 1063-1064 - issn: 1590-1874 - wos: WOS:000355696700045 (5) - scopus: 2-s2.0-84930380994 (7)

11573/856536 - 2015 - Acute optic neuropathy associated with a novel MFN2 mutation
Leonardi, Luca; Marcotulli, Christian; Storti, Eugenia; Tessa, Alessandra; Serrao, Mariano; Parisi, Vincenzo; Santorelli, F. M.; Pierelli, Francesco; Casali, Carlo - 01a Articolo in rivista
paper: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 1678-1680 - issn: 0340-5354 - wos: WOS:000358040600010 (19) - scopus: 2-s2.0-84937976477 (20)

11573/856551 - 2015 - GIFT-1, a phase IIa clinical trial to test the safety and efficacy of IFNγ administration in FRDA patients
Marcotulli, Christian; Fortuni, Silvia; Arcuri, Gaetano; Tomassini, Barbara; Leonardi, Luca; Pierelli, Francesco; Testi, Roberto; Casali, Carlo - 01a Articolo in rivista
paper: NEUROLOGICAL SCIENCES (-Springer-Verlag Italia -Masson SPA:via Flli Bressan 2, I 20126 Milan Italy:011 39 02 27074286, EMAIL: aboonamenti@masson.it, INTERNET: http://www.masson.it, Fax: 011 39 02 27074210) pp. 361-364 - issn: 1590-1874 - wos: WOS:000372330200004 (18) - scopus: 2-s2.0-84961054313 (21)

11573/837009 - 2015 - Neuromuscular adjustments of gait associated with unstable conditions
Martino, G.; Ivanenko, Y. P.; D’Avella, A.; Serrao, Mariano; Ranavolo, A.; Draicchio, F.; Cappellini, G.; Casali, Carlo; Lacquaniti, F. - 01a Articolo in rivista
paper: JOURNAL OF NEUROPHYSIOLOGY (Bethesda, MD,Usa: American Physiological Society) pp. 2867-2882 - issn: 0022-3077 - wos: WOS:000367436400030 (95) - scopus: 2-s2.0-84947460765 (105)

11573/759521 - 2015 - Prefrontal cortex as a compensatory functional substrate during ataxic overground gait: a correlation study between cortical activity and gait parameters
P., Caliandro; Serrao, Mariano; L., Padua; G., Silvestri; C., Iacovelli; C., Simbolotti; Mari, Silvia; G., Reale; Casali, Carlo; P. M., Rossini - 01a Articolo in rivista
paper: RESTORATIVE NEUROLOGY AND NEUROSCIENCE (IOS Press:Nieuwe Hemweg 6B, 1013 BG Amsterdam Netherlands:011 31 20 6883355, EMAIL: r.tosendjojo@iospress.nl, INTERNET: http://www.iospress.nl, Fax: 011 31 20 6203419) pp. 177-187 - issn: 0922-6028 - wos: WOS:000349835000008 (15) - scopus: 2-s2.0-84923205084 (14)

11573/797276 - 2015 - Riluzole in patients with hereditary cerebellar ataxia. a randomised, double-blind, placebo-controlled trial
Romano, Silvia; Coarelli, Giulia; Marcotulli, Christian; Leonardi, Luca; Piccolo, Francesca; Spadaro, Maria; Frontali, Marina; Ferraldeschi, Michela; Vulpiani, Maria Chiara; Ponzelli, Federica; Salvetti, Marco; Orzi, Francesco; Petrucci, Antonio; Vanacore, Nicola; Casali, Carlo; Ristori, Giovanni - 01a Articolo in rivista
paper: LANCET NEUROLOGY (Lancet Publishing Group) pp. 985-991 - issn: 1474-4422 - wos: WOS:000361188400009 (133) - scopus: 2-s2.0-84942504487 (169)

11573/675315 - 2014 - Upper Body Kinematics in Patients with Cerebellar Ataxia
Carmela, Conte; Pierelli, Francesco; Casali, Carlo; Alberto, Ranavolo; Francesco, Draicchio; Giovanni, Martino; Mahmoud, Harfoush; Luca, Padua; Coppola, Gianluca; Giorgio, Sandrini; Serrao, Mariano - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. 689-697 - issn: 1473-4222 - wos: WOS:000345284700005 (27) - scopus: 2-s2.0-84911808118 (33)

11573/1686436 - 2014 - Upper Body Kinematics in Patients with Cerebellar Ataxia
Conte, C.; Pierelli, F.; Casali, C.; Ranavolo, A.; Draicchio, F.; Martino, G.; Harfoush, M.; Padua, L.; Coppola, G.; Sandrini, G.; Serrao, M. - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. 689-697 - issn: 1473-4222 - wos: (0) - scopus: 2-s2.0-84911808118 (33)

11573/559038 - 2014 - 'When atlastin meets spastin'
Di Fabio, Roberto; A., Tessa; Marcotulli, Christian; Pierelli, Francesco; Filippo Maria, Santorelli; Casali, Carlo; Leonardi, Luca - 01a Articolo in rivista
paper: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 504-505 - issn: 0009-9163 - wos: WOS:000344004800018 (1) - scopus: 2-s2.0-84911968494 (3)

11573/559032 - 2014 - Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1
Di Fabio, Roberto; Marcotulli, Christian; Alessandra, Tessa; Eugenia, Storti; Pierelli, Francesco; Filippo M., Santorelli; Casali, Carlo; Leonardi, Luca - 01a Articolo in rivista
paper: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 747-751 - issn: 0340-5354 - wos: WOS:000334177100014 (4) - scopus: 2-s2.0-84898885969 (6)

11573/675287 - 2014 - Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.
Di Fabio, Roberto; Moro, F; Pestillo, L; Meschini, Mc; Pezzini, F; Doccini, S; Casali, Carlo; Pierelli, Francesco; Simonati, A; Santorelli, Fm - 01a Articolo in rivista
paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 1769-1770 - issn: 0028-3878 - wos: WOS:000344771200017 (24) - scopus: 2-s2.0-84922253345 (23)

11573/677857 - 2014 - Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy.
Elisa, Boschetti; Roberto, D'alessandro; Francesca, Bianco; Valerio, Carelli; Giovanna, Cenacchi; Antonio D., Pinna; Massimo Del, Gaudio; Rita, Rinaldi; Vincenzo, Stanghellini; Loris, Pironi; Kerry, Rhoden; Vitaliano, Tugnoli; Casali, Carlo; R. D., Giorgio - 01a Articolo in rivista
paper: PLOS ONE (San Francisco, CA : Public Library of Science) pp. e96692- - issn: 1932-6203 - wos: WOS:000338029800109 (35) - scopus: 2-s2.0-84900534923 (34)

11573/675289 - 2014 - Locomotor patterns in cerebellar ataxia.
G., Martino; Y. P., Ivanenko; Serrao, Mariano; Alberto, Ranavolo; A., D'avella; F., Draicchio; C., Conte; Casali, Carlo; F., Lacquaniti - 01a Articolo in rivista
paper: JOURNAL OF NEUROPHYSIOLOGY (Bethesda, MD,Usa: American Physiological Society) pp. 2810-2821 - issn: 0022-3077 - wos: WOS:000346023000013 (93) - scopus: 2-s2.0-84915746464 (103)

11573/675332 - 2014 - Large deletion mutation of SPAST in a multi-generation family from Sardinia
L., Racis; Di Fabio, Roberto; A., Tessa; F., Guillot; E., Storti; F., Piccolo; C., Nesti; A., Tedde; Pierelli, Francesco; V., Agnetti; Filippo Maria, Santorelli; Casali, Carlo - 01a Articolo in rivista
paper: EUROPEAN JOURNAL OF NEUROLOGY (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 935-938 - issn: 1351-5101 - wos: WOS:000335460200022 (3) - scopus: 2-s2.0-84899992590 (4)

11573/675327 - 2014 - Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease
Leonardi, Luca; Marcotulli, Christian; Mcfarland, Karen N.; Alessandra, Tessa; Roberto, Difabio; Filippo Maria Santorelli, ; Pierelli, Francesco; Tetsuo, Ashizawa; Casali, Carlo - 01a Articolo in rivista
paper: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 1691-1694 - issn: 0340-5354 - wos: WOS:000341791300005 (14) - scopus: 2-s2.0-84939893123 (17)

11573/678254 - 2014 - The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy
Loretta, Racis; Alessandra, Tessa; Di Fabio, Roberto; Eugenia, Storti; Virgilio, Agnetti; Casali, Carlo; Filippo Maria, Santorelli; Maura, Pugliatti - 01a Articolo in rivista
paper: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 52-59 - issn: 0340-5354 - wos: WOS:000330962500006 (17) - scopus: 2-s2.0-84895076657 (20)

11573/558959 - 2014 - Gabapentin can improve dystonia in confirmed Wilson disease.
M., Lerose; Di Fabio, Roberto; Serrao, Mariano; G., Loudianos; Pierelli, Francesco; Casali, Carlo - 01a Articolo in rivista
paper: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (Canadian Journal of Neurological Sciences:709-7015 Macleod Trail Southwest, Calgary Alberta T2H 2K6 Canada:(403)229-9575, EMAIL: cjns@canjneurolsci.org, INTERNET: http://www.canjneurolsci.org, Fax: (403)229-1661) pp. 284-285 - issn: 0317-1671 - wos: WOS:000347575800030 (4) - scopus: 2-s2.0-84894453669 (4)

11573/675318 - 2014 - Early-onset optic neuropathy as initial clinical presentation in SPG7
Marcotulli, Christian; Alessandra, Tessa; Anna Maria De, Negris; Riccardo, Cornia; Pierallini, Alberto; Pierelli, Francesco; Filippo Maria, Santorelli; Casali, Carlo; Leonardi, Luca; Haggiag, Shalom - 01a Articolo in rivista
paper: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 1820-1821 - issn: 0340-5354 - wos: WOS:000341791300023 (10) - scopus: 2-s2.0-84939891468 (14)

11573/536808 - 2014 - Lower Limb Antagonist Muscle Co-Activation and its Relationship with Gait Parameters in Cerebellar Ataxia
Mari, Silvia; Serrao, Mariano; Casali, Carlo; Carmela, Conte; Giovanni, Martino; Alberto, Ranavolo; Coppola, Gianluca; Francesco, Draicchio; Luca, Padua; Giorgio, Sandrini; Pierelli, Francesco - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. 226-236 - issn: 1473-4222 - wos: WOS:000332156400007 (71) - scopus: 2-s2.0-84896315252 (78)

11573/856487 - 2014 - Cerebellum and neuropsychiatric disorders: Insights from ARSACS
Mignarri, Andrea; Tessa, Alessandra; Carluccio, Maria Alessandra; Rufa, Alessandra; Storti, Eugenia; Bonelli, Giovanni; Marcotulli, Christian; Santorelli, Filippo Maria; Leonardi, Luca; Casali, Carlo; Federico, Antonio; Dotti, Maria Teresa - 01a Articolo in rivista
paper: NEUROLOGICAL SCIENCES (-Springer-Verlag Italia -Masson SPA:via Flli Bressan 2, I 20126 Milan Italy:011 39 02 27074286, EMAIL: aboonamenti@masson.it, INTERNET: http://www.masson.it, Fax: 011 39 02 27074210) pp. 95-97 - issn: 1590-1874 - wos: WOS:000329252100015 (17) - scopus: 2-s2.0-84892678730 (22)

11573/536951 - 2013 - Inserimento lavorativo del paziente atassico
A., Silvetti; Casali, Carlo; A., Ranavolo; C., Conte; F., Forzano; Mari, Silvia; M., Ghelli; G., Bianchi; P., Deitinger; Serrao, Mariano; F., Draicchio - 04a Atto di comunicazione a congresso
paper: GIORNALE ITALIANO DI MEDICINA DEL LAVORO ED ERGONOMIA (Ariccia (RM): Aracne editrice Pavia: PI-ME Editrice) pp. 183-184 - issn: 1592-7830 - wos: (0) - scopus: (0)
conference: 76° Congreso Nazionale SIMLII (Messina)

11573/484856 - 2013 - Oculomotor deficits affect neuropsychological performance in oculomotor apraxia type 2
Clausi, Silvia; Maria De, Luca; Francesca R., Chiricozzi; Anna M., Tedesco; Casali, Carlo; Marco, Molinari; Leggio, Maria - 01a Articolo in rivista
paper: CORTEX (Primo editore: Tipografica Varese, Varese Attuale:Masson SPA:via Flli Bressan 2, I 20126 Milan Italy:011 39 02 27074286, EMAIL: aboonamenti@masson.it, INTERNET: http://www.masson.it, Fax: 011 39 02 27074210) pp. 691-701 - issn: 0010-9452 - wos: WOS:000317322900009 (10) - scopus: 2-s2.0-84875268822 (15)

11573/500574 - 2013 - Cerebellar Atrophy in Congenital Fibrosis of the Extraocular Muscles Type 1
Di Fabio, Roberto; Giovanna, Comanducci; Francesca, Piccolo; Filippo Maria Santorelli, ; Teresa De Berardinis, ; Alessandra, Tessa; Umberto, Sabatini; Pierelli, Francesco; Casali, Carlo - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. 140-143 - issn: 1473-4222 - wos: WOS:000313203500015 (8) - scopus: 2-s2.0-84872472283 (8)

11573/515529 - 2013 - De novo FTL mutation: A clinical, neuroimaging, and molecular study
Eugenia, Storti; Cortese, Francesca; Di Fabio, Roberto; Chiara, Fiorillo; Pierallini, Alberto; Alessandra, Tessa; Annamaria, Valleriani; Pierelli, Francesco; Filippo M., Santorelli; Casali, Carlo - 01a Articolo in rivista
paper: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 252-253 - issn: 0885-3185 - wos: WOS:000315399300029 (14) - scopus: 2-s2.0-84874207879 (16)

11573/536819 - 2013 - Sudden Stopping in Patients with Cerebellar Ataxia
Serrao, Mariano; Carmela, Conte; Casali, Carlo; Alberto, Ranavolo; Mari, Silvia; Di Fabio, Roberto; Armando, Perrotta; Coppola, Gianluca; Luca, Padua; Stefano, Monami; Giorgio, Sandrini; Pierelli, Francesco - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. 607-616 - issn: 1473-4222 - wos: WOS:000323845100002 (18) - scopus: 2-s2.0-84892366576 (22)

11573/536818 - 2013 - Reply to Comment "Why Do Patients with Cerebellar Ataxia Not Use Environmental Cues for Reducing Unpredictability of Sudden Gait Stopping?" on "Sudden Stopping in Patients with Cerebellar Ataxia"
Serrao, Mariano; Carmela, Conte; Casali, Carlo; Alberto, Ranavolo; Mari, Silvia; Di Fabio, Roberto; Roberto, Fabio; Armando, Perrotta; Coppola, Gianluca; Luca, Padua; Stefano, Monami; Giorgio, Sandrini; Pierelli, Francesco - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. 958-959 - issn: 1473-4222 - wos: WOS:000325827300023 (1) - scopus: 2-s2.0-84892434263 (1)

11573/536953 - 2013 - Aumento della coattivazione muscolare nei muscoli antagonisti degli arti inferiori nei pazienti affetti da atassia cerebellare: razionale per l'utilizzo di ortesi elastiche per migliorare l'equilibrio
Serrao, Mariano; Mari, Silvia; C., Conte; Casali, Carlo; G., Martino; A., Ranavolo; M., Ferrari; M., Marini; S., Monamì; Pierelli, Francesco - 04a Atto di comunicazione a congresso
paper: GIORNALE ITALIANO DI MEDICINA RIABILITATIVA (Milano: Ed. Ermes.) pp. 177-177 - issn: 1128-4935 - wos: (0) - scopus: (0)
conference: 41° Congresso Nazionale SIMFER ()

11573/510142 - 2013 - Strategies Adopted by Cerebellar Ataxia Patients to Perform U-Turns
Serrao, Mariano; Mari, Silvia; Carmela, Conte; Alberto, Ranavolo; Casali, Carlo; Francesco, Draicchio; Di Fabio, Roberto; Michelangelo, Bartolo; Stefano, Monami; Luca, Padua; Pierelli, Francesco - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. 460-468 - issn: 1473-4222 - wos: WOS:000321791100004 (16) - scopus: 2-s2.0-84892365478 (23)

11573/442927 - 2012 - Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model
B., Tomassini; G., Arcuri; S., Fortuni; C., Sandi; V., Ezzatizadeh; Casali, Carlo; I., Condo; F., Malisan; S., Al Mahdawi; M., Pook; R., Testi - 01a Articolo in rivista
paper: HUMAN MOLECULAR GENETICS (Oxford University Press:Journals Department, Great Clarendon Street, Oxford OX2 6DP United Kingdom:011 44 1865 556767, EMAIL: jnlorders@oup.co.uk, INTERNET: http://www.oup.co.uk, Fax: 011 44 1865 267485) pp. 2855-2861 - issn: 0964-6906 - wos: WOS:000305457700002 (47) - scopus: 2-s2.0-84863534984 (52)

11573/510148 - 2012 - Planned gait termination in cerebellar ataxias
C., Conte; Serrao, Mariano; Alberto, Ranavolo; Casali, Carlo; Mari, Silvia; F., Draicchio; S., Iavicoli; G., Sandrini; Pierelli, Francesco - 04a Atto di comunicazione a congresso
conference: Planned gait termination in cerebellar ataxias ()

11573/438964 - 2012 - Planned Gait Termination in Cerebellar Ataxias
Carmela, Conte; Serrao, Mariano; Casali, Carlo; Alberto, Ranavolo; M., Silvia; Francesco, Draicchio; Di Fabio, Roberto; Stefano, Monami; Luca, Padua; Sergio, Iavicoli; Giorgio, Sandrini; Pierelli, Francesco - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. 896-904 - issn: 1473-4222 - wos: WOS:000311249400010 (20) - scopus: 2-s2.0-84870398725 (29)

11573/438965 - 2012 - Infantile Childhood Onset of Spinocerebellar Ataxia Type 2
Di Fabio, Roberto; Filippo, Santorelli; Enrico, Bertini; Martina, Balestri; Laura, Cursi; Alessandra, Tessa; Pierelli, Francesco; Casali, Carlo - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. 526-530 - issn: 1473-4222 - wos: WOS:000304466100029 (15) - scopus: 2-s2.0-84864675452 (21)

11573/510146 - 2012 - Turning strategies in patients with cerebellar ataxia
Mari, Silvia; Serrao, Mariano; A., Ranavolo; Casali, Carlo; C., Conte; F., Draicchio; S., Iavicoli; Pierelli, Francesco - 04b Atto di convegno in volume
conference: Terzo Congresso Gruppo Nazionale Bioingegneria (Rome; Italy)
book: Terzo Congresso Gruppo Nazionale Bioingegneria - (9788855531825)

11573/486897 - 2012 - Turning strategies in patients with cerebellar ataxia
Mari, Silvia; Serrao, Mariano; Casali, Carlo; Carmela, Conte; Alberto, Ranavolo; Luca, Padua; Francesco, Draicchio; Sergio, Iavicoli; Stefano, Monami; Giorgio, Sandrini; Pierelli, Francesco - 01a Articolo in rivista
paper: EXPERIMENTAL BRAIN RESEARCH (Germany: Springer Verlag) pp. 65-75 - issn: 0014-4819 - wos: WOS:000308818200007 (28) - scopus: 2-s2.0-84866354225 (33)

11573/480502 - 2012 - Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis
Maria Barbara, Lepori; Antonietta, Zappu; Simona, Incollu; Valentina, Dessi; Eva, Mameli; Luigi, Demelia; Anna Maria, Nurchi; Liana, Gheorghe; Giuseppe, Maggiore; Marco, Sciveres; Leuzzi, Vincenzo; Giuseppe, Indolfi; Luisa, Bonafe; Casali, Carlo; Paolo, Angeli; Patrizia, Barone; Antonio, Cao; Georgios, Loudianos - 01a Articolo in rivista
paper: MOLECULAR AND CELLULAR PROBES (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. 147-150 - issn: 0890-8508 - wos: WOS:000305658700001 (17) - scopus: 2-s2.0-84861803715 (18)

11573/536960 - 2012 - Strategy used to perform a U-turn by patients with cerebellar ataxia
Serrao, Mariano; Mari, Silvia; A., Ranavolo; C., Conte; Casali, Carlo; Pierelli, Francesco; M., Ferrari; F., Papalia; R., Papa; S., Fattori; S., Monamì - 04a Atto di comunicazione a congresso
paper: GIORNALE ITALIANO DI MEDICINA RIABILITATIVA (Milano: Ed. Ermes.) pp. 86-87 - issn: 1128-4935 - wos: (0) - scopus: (0)

11573/380914 - 2012 - Gait Pattern in Inherited Cerebellar Ataxias
Serrao, Mariano; Pierelli, Francesco; Alberto, Ranavolo; Francesco, Draicchio; Carmela, Conte; Romildo, Don; Di Fabio, Roberto; Margherita, Lerose; Luca, Padua; Giorgio, Sandrini; Casali, Carlo - 01a Articolo in rivista
paper: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. 194-211 - issn: 1473-4222 - wos: WOS:000302087500018 (98) - scopus: 2-s2.0-84859005814 (97)

11573/453815 - 2012 - A new GLUT-1 mutation in a family with glucose transporter 1 deficiency syndrome
Stella, Gagliardi; Annalisa, Davin; Ivana, Ricca; Gaetano S., Grieco; Roberta, Zangaglia; Pierelli, Francesco; Andrea, Ghiroldi; Claudio, Pacchetti; Casali, Carlo; Cristina, Cereda - 01a Articolo in rivista
paper: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 804-805 - issn: 0885-3185 - wos: WOS:000304599600034 (3) - scopus: 2-s2.0-84861662654 (3)

11573/537007 - 2011 - Analisi quantitativa dei task locomotori instabili nelle atassie cerebellari: possibile ruolo degli indici di stabilità come strumento di valutazione in ambito riabilitativo
C., Conte; Mari, Silvia; Casali, Carlo; S., Monamì; F., Papalia; W., Silvestri; F., Draicchio; Pierelli, Francesco; Serrao, Mariano - 04a Atto di comunicazione a congresso
paper: GIORNALE ITALIANO DI MEDICINA RIABILITATIVA (Milano: Ed. Ermes.) pp. 11-11 - issn: 1128-4935 - wos: (0) - scopus: (0)

11573/438966 - 2011 - Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders
G., Piluso; M., Dionisi; F., Del Vecchio Blanco; A., Torella; S., Aurino; M., Savarese; T., Giugliano; E., Bertini; A., Terracciano; M., Vainzof; C., Criscuolo; L., Politano; Casali, Carlo; F. M., Santorelli; V., Nigro - 01a Articolo in rivista
paper: CLINICAL CHEMISTRY (-Washington, DC: American Association of Clinical Chemistry -Baltimore, Md. : P.B. Hoeber, [c1955-) pp. 1584-1596 - issn: 0009-9147 - wos: WOS:000296606100018 (39) - scopus: 2-s2.0-80055068583 (43)

11573/118237 - 2011 - Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach
J., Halter; W. M. M., Schupbach; Casali, Carlo; R., Elhasid; K., Fay; S., Hammans; I., Illa; L., Kappeler; S., Krahenbuhl; T., Lehmann; H., Mandel; R., Marti; H., Mattle; K., Orchard; D., Savage; C. M., Sue; D., Valcarcel; A., Gratwohl; M., Hirano - 01a Articolo in rivista
paper: BONE MARROW TRANSPLANTATION (London: Springer Nature Basingstoke: Macmillan, 1986-) pp. 330-337 - issn: 0268-3369 - wos: WOS:000288164000002 (77) - scopus: 2-s2.0-79952533538 (95)

11573/355969 - 2011 - Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation
Sara De, Sanctis; Gaetano Salvatore, Grieco; Luciana, Breda; Casali, Carlo; Manuela, Nozzi; Marianna Del, Torto; Francesco, Chiarelli; Alberto, Verrotti - 01a Articolo in rivista
paper: HEADACHE (Blackwell Science Incorporated:350 Main Street, Sixth Floor:Malden, MA 02148:(888)661-5800, (781)388-8250, EMAIL: csjournals@blacksci.com, INTERNET: http://www.blackwell-science.com, Fax: (781)388-8232) pp. 447-450 - issn: 0017-8748 - wos: WOS:000287743300014 (15) - scopus: 2-s2.0-79952270988 (15)

11573/453708 - 2011 - Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay
Vingolo, Enzo Maria; Di Fabio, Roberto; Salvatore, Serena; G., Grieco; Bertini, Enrico; Leuzzi, Vincenzo; C., Nesti; A., Filla; A., Tessa; Pierelli, Francesco; F. M., Santorelli; Casali, Carlo - 01a Articolo in rivista
paper: EUROPEAN JOURNAL OF NEUROLOGY (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 1187-1190 - issn: 1351-5101 - wos: WOS:000294347200022 (24) - scopus: 2-s2.0-80051584764 (28)

11573/358975 - 2010 - Iatrogenic selctive lesion of the median nerve at the elbow
Di Fabio, R; Casali, Carlo; Pierelli, Francesco - 01a Articolo in rivista
paper: ACTA NEUROLOGICA BELGICA (Association for the Society of Scientifique Medica Belgique:Weldadigheidsstraat 49, 3000 Leuven Belgium:011 32 16 232000, EMAIL: acta.cardiologica@chello.be, INTERNET: http://www.ulb.ac.be/medecine/loce/amb.htm, Fax: 011 32 16 231800) pp. 97-99 - issn: 0300-9009 - wos: (0) - scopus: 2-s2.0-77953701167 (0)

11573/230813 - 2010 - Hydroxyzine hydrochloride in familial restless legs syndrome
Di Fabio, R; Casali, Carlo; Vadalà, R; Pierelli, Francesco - 01a Articolo in rivista
paper: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (Canadian Journal of Neurological Sciences:709-7015 Macleod Trail Southwest, Calgary Alberta T2H 2K6 Canada:(403)229-9575, EMAIL: cjns@canjneurolsci.org, INTERNET: http://www.canjneurolsci.org, Fax: (403)229-1661) pp. 406-407 - issn: 0317-1671 - wos: WOS:000277393300022 (1) - scopus: 2-s2.0-77950665283 (3)

11573/362622 - 2010 - Familial frontotemporal dementia with parkinsonism associated with the progranulin c.C1021T (p.Q341X) mutation
Di Fabio, Roberto; Alessandra, Tessa; Erik J., Simons; Filippo M., Santorelli; Casali, Carlo; Serrao, Mariano; Pierelli, Francesco; Vincenzo, Bonifati - 01a Articolo in rivista
paper: PARKINSONISM & RELATED DISORDERS (Elsevier Science:Molenwarf 1, 1014 AG Amsterdam The Netherlands:011 31 20 4853597, EMAIL: p.j.bishop@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 31 20 4853249) pp. 484-485 - issn: 1353-8020 - wos: WOS:000280983700013 (6) - scopus: 2-s2.0-77954952930 (7)

11573/229566 - 2009 - Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
Denora, Ps; Schlesinger, D; Casali, Carlo; Kok, F; Tessa, A; Boukhris, A; Azzedine, H; Dotti, Mt; Bruno, C; Truchetto, J; Biancheri, R; Fedirko, E; Di Rocco, M; Bueno, C; Malandrini, A; Battini, R; Sickl, E; De Leva, Mf; Boespflug Tanguy, O; Silvestri, G; Simonati, A; Said, E; Ferbert, A; Criscuolo, C; Heinimann, K; Modoni, A; Weber, P; Palmeri, S; Plasilova, M; Pauri, Flavia; Cassandrini, D; Battisti, C; Pini, A; Tosetti, M; Hauser, E; Masciullo, M; Di Fabio, R; Piccolo, F; Denis, E; Cioni, G; Massa, R; Della, ; Giustina, E; Calabrese, O; Melone, Ma; De Michele, G; Federico, A; Bertini, E; Durr, A; Brockmann, K; Van Der Knaap, Ms; Zatz, M; Filla, A; Brice, A; Stevanin, G; Santorelli, Fm - 01a Articolo in rivista
paper: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 500-519 - issn: 1059-7794 - wos: WOS:000279979600005 (59) - scopus: 2-s2.0-61649106518 (58)

11573/229994 - 2009 - Contrast Echocardiography and Migraine in Divers with Patent Foramen Ovale
Di Fabio, Roberto; E., Giugni; I., Angeloni; N., Vanacore; Casali, Carlo; Pierallini, Alberto; R., Vadala; Pierelli, Francesco - 01a Articolo in rivista
paper: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (Canadian Journal of Neurological Sciences:709-7015 Macleod Trail Southwest, Calgary Alberta T2H 2K6 Canada:(403)229-9575, EMAIL: cjns@canjneurolsci.org, INTERNET: http://www.canjneurolsci.org, Fax: (403)229-1661) pp. 740-744 - issn: 0317-1671 - wos: WOS:000271838500013 (5) - scopus: 2-s2.0-70350337389 (4)

11573/230016 - 2009 - Clinical and audiological follow up of a family with the 8363G > A mutation in the mitochondrial DNA
Di Fabio, Roberto; Filippo M., Santorelli; Giuseppe, Nola; Federica, Cricchi; Roberto, Masi; Angelo, Ingrosso; Fabiana, Fattori; Rosalba, Carrozzo; Nicola, Vanacore; Pierelli, Francesco; Ralli, Giovanni; Casali, Carlo - 01a Articolo in rivista
paper: NEUROMUSCULAR DISORDERS (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. 291-296 - issn: 0960-8966 - wos: WOS:000265868500010 (2) - scopus: 2-s2.0-63749085615 (2)

11573/361720 - 2009 - Mitochondrial DNA haplogroups influence the therapeutic response to riboflavin in migraineurs
Di Lorenzo, C; Pierelli, Francesco; Coppola, Gianluca; Grieco, Gs; Rengo, C; Ciccolella, M; Magis, D; Bolla, M; Casali, Carlo; Santorelli, Fm; Schoenen, J. - 01a Articolo in rivista
paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 1588-1594 - issn: 0028-3878 - wos: WOS:000265782600010 (67) - scopus: 2-s2.0-67649414741 (72)

11573/229672 - 2009 - Drug consumption in medication overuse headache is influenced by brain-derived neurotrophic factor Val66Met polymorphism
Di Lorenzo, Cherubino; Giorgio Di, Lorenzo; Grazia, Sances; Natascia, Ghiotto; Elena, Guaschino; Gaetano S., Grieco; Filippo M., Santorelli; Casali, Carlo; Alfonso, Troisi; Alberto, Siracusano; Pierelli, Francesco - 01a Articolo in rivista
paper: THE JOURNAL OF HEADACHE AND PAIN (Springer-Verlag Italia Srl:via Decembrio 28, 20137 Milan Italy:011 39 2 5425971, EMAIL: riccardi@springer.it, Fax: 011 39 2 55193360) pp. 349-355 - issn: 1129-2369 - wos: WOS:000269881700007 (52) - scopus: 2-s2.0-70349255688 (56)

11573/119188 - 2009 - BDNF Val66Met polymorphism is associated with cognitive impairment in Italian patients with Parkinson's disease.
Guerini, Fr; Beghi, E; Riboldazzi, G; Zangaglia, R; Pianezzola, C; Bono, G; Casali, Carlo; Di Lorenzo, C; Agliardi, C; Nappi, G; Clerici, M; Martignoni, E. - 01a Articolo in rivista
paper: EUROPEAN JOURNAL OF NEUROLOGY (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 1240-1245 - issn: 1351-5101 - wos: WOS:000270900700015 (63) - scopus: 2-s2.0-70350134497 (70)

11573/230563 - 2009 - Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population
Paola S., Denora; Maria, Muglia; Casali, Carlo; Jeremy, Truchetto; Gabriella, Silvestri; Demetrio, Messina; Amir, Boukrhis; Angela, Magariello; Anna, Modoni; Marcella, Masciullo; Alessandro, Malandrini; Maurizio, Morelli; M. F., De Leva; Marcello, Villanova; Elisabetta, Giugni; Luigi, Citrigno; Teresa, Rizza; Antonio, Federico; Pierallini, Alberto; Aldo, Quattrone; Alessandro, Filla; Alexis, Brice; Giovanni, Stevanin; Filippo M., Santorelli - 01a Articolo in rivista
paper: JOURNAL OF THE NEUROLOGICAL SCIENCES (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 22-25 - issn: 0022-510X - wos: WOS:000263187200005 (16) - scopus: 2-s2.0-58249143356 (18)

11573/230073 - 2009 - Olfactory hallucinations as a manifestation of hidden rhinosinusitis
Roberto, Difabio; Casali, Carlo; Elisabetta, Giugni; Pierelli, Francesco - 01a Articolo in rivista
paper: JOURNAL OF CLINICAL NEUROSCIENCE (Amsterdam: Elsevier Science Ltd. South Melbourne Vic.: Churchill Livingstone Harcourt Publishers Limited) pp. 1353-1355 - issn: 0967-5868 - wos: WOS:000269992400029 (10) - scopus: 2-s2.0-68949098421 (12)

11573/118236 - 2008 - A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy
A., Tessa; G., Silvestri; M. F., De Leva; A., Modoni; P. S., Denora; M., Masciullo; M. T., Dotti; Casali, Carlo; Federico A., Melone Ma; A., Filla; F. M., Santorelli - 01a Articolo in rivista
paper: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 1090-1092 - issn: 0340-5354 - wos: WOS:000258025000025 (30) - scopus: 2-s2.0-50049091987 (30)

11573/226614 - 2008 - Clinical and genetic characterization of Chanarin-Dorfman syndrome
Claudio, Bruno; Enrico, Bertini; Maja Di, Rocco; Denise, Cassandrini; Giuseppe, Ruffa; Teresa De, Toni; Marco, Seri; Marco, Spada; Giovanni Li, Volti; Adele, D'amico; Federica, Trucco; Arca, Marcello; Casali, Carlo; Corrado, Angelini; Salvatore, Dimauro; Carlo, Minetti - 01a Articolo in rivista
paper: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (San Diego [etc.]: Elsevier [etc.]) pp. 1125-1128 - issn: 0006-291X - wos: WOS:000254864700026 (49) - scopus: 2-s2.0-41249098850 (69)

11573/228241 - 2008 - Quetiapine: an alternative treatment in painless legs and moving toes
Di Fabio, R; Casali, Carlo; Pierelli, Francesco - 01a Articolo in rivista
paper: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 1326-1328 - issn: 0885-3185 - wos: WOS:000258421800028 (4) - scopus: 2-s2.0-52649178932 (5)

11573/226976 - 2008 - Paraneoplastic neuromuscular disease in lung large cell neuroendocrine carcinoma
Di Fabio, Roberto; L., Benedetti; K., Michailidis; Pierelli, Francesco; Casali, Carlo - 01a Articolo in rivista
paper: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (Canadian Journal of Neurological Sciences:709-7015 Macleod Trail Southwest, Calgary Alberta T2H 2K6 Canada:(403)229-9575, EMAIL: cjns@canjneurolsci.org, INTERNET: http://www.canjneurolsci.org, Fax: (403)229-1661) pp. 516-518 - issn: 0317-1671 - wos: WOS:000259650700021 (2) - scopus: 2-s2.0-55049128617 (3)

11573/364899 - 2008 - Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy
Filomena, Campagna; Luisa, Nanni; Quagliarini, Fabiana; Elena, Pennisi; Constantine, Michailidis; Pierelli, Francesco; Claudio, Bruno; Casali, Carlo; Salvatore, Dimauro; Arca, Marcello - 01a Articolo in rivista
paper: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (San Diego [etc.]: Elsevier [etc.]) pp. 843-846 - issn: 0006-291X - wos: WOS:000261458900020 (45) - scopus: 2-s2.0-56049104881 (53)

11573/118951 - 2008 - An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.
Terracciano, A; Casali, Carlo; Grieco, Gs; Orteschi, D; Di Giandomenico, S; Seminara, L; Di Fabio, R; Carrozzo, R; Simonati, A; Stevanin, G; Zollino, M; Santorelli, Fm - 01a Articolo in rivista
paper: NEUROGENETICS (Heidelberg Germany: Springer Verlag Germany) pp. 233-238 - issn: 1364-6745 - wos: WOS:000264884400009 (19) - scopus: 2-s2.0-64149131950 (21)

11573/238830 - 2007 - EARLY-ONSET PROGRESSIVE ATAXIA ASSOCIATED WITH THE FIRST CACNA1A MUTATION IDENTIFIED WITHIN THE I-II LOOP.
Cricchi, F; Di Lorenzo, Cherubino; Grieco, Gs; Rengo, C; Cardinale, A; Racaniello, M; Santorelli, Fm; Nappi, Giuseppe; Pierelli, Francesco; Casali, Carlo - 01a Articolo in rivista
paper: JOURNAL OF THE NEUROLOGICAL SCIENCES (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 69-71 - issn: 0022-510X - wos: WOS:000245391200014 (22) - scopus: 2-s2.0-33847277770 (24)

11573/457715 - 2007 - Shortened cortical silent period in facial muscles of patients with migraine.
Curra', Antonio; Pierelli, Francesco; Coppola, Gianluca; Barbanti, P; Buzzi, Mg; Galeotti, F; Serrao, Mariano; Truini, Andrea; Casali, Carlo; Pauri, Flavia; Cruccu, Giorgio - 01a Articolo in rivista
paper: PAIN (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 124-131 - issn: 0304-3959 - wos: WOS:000251015400020 (41) - scopus: 2-s2.0-34848887672 (47)

11573/476056 - 2007 - Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop - Reply
Di Lorenzo, Cherubino; F., Cricchi; A., Cardinale; F. M., Santorelli; Pierelli, Francesco; Casali, Carlo - 01b Commento, Erratum, Replica e simili
paper: JOURNAL OF THE NEUROLOGICAL SCIENCES (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 226-227 - issn: 0022-510X - wos: WOS:000253671700044 (0) - scopus: 2-s2.0-35748932367 (0)

11573/236541 - 2007 - The Wolframin His611Arg polimorphism infuences medication overuse headache
Di Lorenzo, Cherubino; Sances, G; Di Lorenzo, G; Rengo, C; Ghiotto, N; Guaschino, E; Perrotta, A; Santorelli, Fm; Grieco, Gs; Troisi, A; Siracusano, A; Pierelli, Francesco; Nappi, Giuseppe; Casali, Carlo - 01a Articolo in rivista
paper: NEUROSCIENCE LETTERS (Limerick Ireland: Elsevier Science Ireland Limited) pp. 179-184 - issn: 0304-3940 - wos: WOS:000250192500008 (30) - scopus: 2-s2.0-34548669890 (36)

11573/231387 - 2006 - Ataxia with oculomotor apraxia type 2: a clinical, pathologic and genetic study.
Criscuolo, C; Chessa, Luciana; Di Giandomenico, S; Mancini, P; Sacca', F; Greco, Gs; Piane, Maria; Barbieri, F; De Michele, G; Banfi, S; Pierelli, Francesco; Rizzato, N; Santarelli, Fm; Gallosti, L; Filla, A; Casali, Carlo - 01a Articolo in rivista
paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 1207-1210 - issn: 0028-3878 - wos: WOS:000237054300015 (91) - scopus: 2-s2.0-33646694334 (100)

11573/237730 - 2006 - Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
Giovanni, Stevanin; Giorgia, Montagna; Hamid, Azzedine; Enza Maria, Valente; Alexandra, Durr; Valentina, Scarano; Naima, Bouslam; Denise, Cassandrini; Paola S., Denora; Chiara, Criscuolo; Soraya, Belarbi; Antonio, Orlacchio; Philippe, Jonveaux; Gabriella, Silvestri; Anne Marie Ouvrad, Hernandez; G., De Michele; Meriem, Tazir; Caterina, Mariotti; Knut, Brockmann; Alessandro, Malandrini; M. S., Van Der Knapp; Marcella, Neri; Hassan, Tonekaboni; Mariarosa A. B., Melone; Alessandra, Tessa; M., Teresa Dotti; Michela, Tosetti; Pauri, Flavia; Antonio, Federico; Casali, Carlo; Vitor T., Cruz; Jose L., Loureiro; Federico, Zara; Sylvie, Forlani; Enrico, Bertini; Paula, Coutinho; Alessandro, Filla; Alexis, Brice; Filippo M., Santorelli; C., Casali - 01a Articolo in rivista
paper: NEUROGENETICS (Heidelberg Germany: Springer Verlag Germany) pp. 149-156 - issn: 1364-6745 - wos: WOS:000239043000003 (37) - scopus: 2-s2.0-33746054137 (40)

11573/118181 - 2006 - Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.
Hirano, M; Marti, R; Casali, Carlo; Tadesse, S; Uldrick, T; Fine, B; Escolar, Dm; Valentino, Ml; Nishino, I; Hesdorffer, C; Schwartz, J; Hawks, Rg; Martone, Dl; Cairo, Ms; Dimauro, S; Stanzani, M; Garvin Jh, Jr; Savage, Dg - 01a Articolo in rivista
paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 1458-1460 - issn: 0028-3878 - wos: WOS:000241494800026 (130) - scopus: 2-s2.0-33750306390 (156)

11573/412157 - 2006 - Clinical and genetic studies in autosomal recessive spastic paraplegia with thin corpus callosum: refinement of the SPG11locus, candidate gene analysis and evidence of genetic heterogeneity
Santorelli, Fm; Denora, Ps; Stevanin, G; Cassandrini, D; Mariotti, C; Pauri, Flavia; Silvestri, G; Durr, A; Criscuolo, C; Casali, Carlo; Bertini, E; Zara, F; Federico, A; Coutinho, P; Brice, A; Filla, A. - 04a Atto di comunicazione a congresso
paper: NEUROLOGICAL SCIENCES (-Springer-Verlag Italia -Masson SPA:via Flli Bressan 2, I 20126 Milan Italy:011 39 02 27074286, EMAIL: aboonamenti@masson.it, INTERNET: http://www.masson.it, Fax: 011 39 02 27074210) pp. S13- - issn: 1590-1874 - wos: (0) - scopus: (0)
conference: XXXVII Congress of the Italian Neurological Society (BARI)

11573/117988 - 2005 - Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations
Patrono, C; Scarano, V; Cricchi, F; Melone, Ma; Chiriaco, M; Napolitano, A; Malandrini, A; De Michele, G; Petrozzi, L; Giraldi, C; Santoro, L; Servidei, S; Casali, Carlo; C, ; Filla, A; Santorelli, Fm - 01a Articolo in rivista
paper: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 506- - issn: 1059-7794 - wos: (0) - scopus: 2-s2.0-28544451984 (49)

11573/365430 - 2004 - Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
Casali, Carlo; E. M., Valente; E., Bertini; G., Montagna; C., Criscuolo; G., De Michele; M., Villanova; M., Damiano; Pierallini, Alberto; Francesco, Brancati; V., Scarano; A., Tessa; F., Cricchi; G. S., Grieco; M., Muglia; M., Carella; B., Martini; A., Rossi; Amabile, Giuseppe Amadio; Nappi, Giuseppe; A., Filla; Dalla Piccola, Bruno; F. M., Santorelli - 01a Articolo in rivista
paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 262-268 - issn: 0028-3878 - wos: WOS:000188439300021 (56) - scopus: 2-s2.0-10744222725 (65)

11573/117989 - 2004 - Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosispatients
Ferri, A; Nencini, M; Battistini, S; Giannini, F; Siciliano, G; Casali, Carlo; Damiano, Mg; Ceroni, M; Chio, A; Rotilio, G; Carri, Mt - 01a Articolo in rivista
paper: JOURNAL OF NEUROCHEMISTRY (Editore attuale:BLACKWELL PUBLISHING LTD, 9600 GARSINGTON RD, OXFORD, ENGLAND, OXON, OX4 2DG Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 1237-1242 - issn: 0022-3042 - wos: WOS:000223366500021 (27) - scopus: 2-s2.0-4444383980 (29)

11573/236545 - 2004 - Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type
Grieco, Gs; Malandrini, A; Comanducci, G; Leuzzi, Vincenzo; Valoppi, ; Tessa, A; Palmeri, S; Benedetti, L; Pierallini, Alberto; Gambelli, S; Federico, A; Pierelli, Francesco; Bertini, E; Casali, Carlo; Santorelli, Fm - 01a Articolo in rivista
paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 103-106 - issn: 0028-3878 - wos: WOS:000188010100026 (55) - scopus: 2-s2.0-9144226226 (64)

11573/252355 - 2003 - Current insights into familial spastic paraparesis: new advances in an old disease
D., Fortini; F., Cricchi; Di Fabio, Roberto; M., Damiano; L., Benedetti; G., Comanducci; L., Valoppi; A., Celato; F. M., Santorelli; Casali, Carlo; Amabile, Giuseppe Amadio; Pierelli, Francesco - 01a Articolo in rivista
paper: FUNCTIONAL NEUROLOGY (CIC Edizioni Internazionali:Corso Trieste N 42, I 00198 Rome Italy:011 39 06 8412673, EMAIL: abbonamenti@gruppocic.it, INTERNET: http://www.gruppocic.it, Fax: 011 39 06 8412688) pp. 43-49 - issn: 0393-5264 - wos: WOS:000182736500007 (7) - scopus: 2-s2.0-0038638024 (8)

11573/485160 - 2003 - Detection of deleted mitochondrial DNA in Kearns-Sayre syndrome using laser capture microdissection
Daniela, Pistilli; Di Gioia, Cira Rosaria Tiziana; D'amati, Giulia; Sciacchitano, Salvatore; Quaglione, Raffaele; Raffaella, Quitadamo; Casali, Carlo; Gallo, Pietro; Filippo Maria, Santorelli - 01a Articolo in rivista
paper: HUMAN PATHOLOGY (-Philadelphia Usa: W.B. Saunders Co. -PHILADELPHIA, USA: W.B. SAUNDERS CO-ELSEVIER INC) pp. 1058-1061 - issn: 0046-8177 - wos: WOS:000186337500015 (19) - scopus: 2-s2.0-0142169909 (21)

11573/70159 - 2003 - Variable phenotype in a P102L Gerstmann-Straussler-Scheinker Italian family
De Michele, G.; Pocchiari, M.; Petraroli, R.; Manfredi, M.; Caneve, G.; Coppola, G.; Casali, Carlo; Sacc, F.; Piccardo, P.; Salvatore, E.; Berardelli, Alfredo; Orio, M.; Barbieri, F.; Ghetti, B.; Filla, A. - 01a Articolo in rivista
paper: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (Canadian Journal of Neurological Sciences:709-7015 Macleod Trail Southwest, Calgary Alberta T2H 2K6 Canada:(403)229-9575, EMAIL: cjns@canjneurolsci.org, INTERNET: http://www.canjneurolsci.org, Fax: (403)229-1661) pp. 233-236 - issn: 0317-1671 - wos: WOS:000184716400012 (19) - scopus: 2-s2.0-0041862480 (20)

11573/249055 - 2003 - A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy
Robert W., Taylor; Giordano, Carla; Mercy M., Davidson; D'amati, Giulia; Hugh, Bain; Christine M., Hayes; Leonard H., Barron Mj; Casali, Carlo; Filippo M., Santorelli; Michio, Hirano; Robert N., Lightowlers; Salvatore, Dimauro; Douglass M., Turnbull - 01a Articolo in rivista
paper: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY ([New York N.Y.]: Elsevier Biomedical Philadelphia, PA: W B Saunders Company) pp. 1786-1796 - issn: 0735-1097 - wos: WOS:000182960900023 (213) - scopus: 2-s2.0-0038238874 (160)

11573/82369 - 2003 - Atassia cerebellare di Friedreich. Uno studio di voxel-based morphometry (VBM).
Romano, Andrea; Pierallini, Alberto; Casali, Carlo; F., Cricchi; M., Bonamini; Bianco, Federico; Bozzao, Alessandro; Lm, Fantozzi; Bozzao, Luigi - 01a Articolo in rivista
paper: RIVISTA DI NEURORADIOLOGIA (Edizioni Centauro:Via Pietro Calvi 3, 20129 Milan Italy:(011) 39 2 76110615, Fax: (011)39 2 76110615) pp. 55-56 - issn: 1120-9976 - wos: WOS:000188874700014 (0) - scopus: (0)

11573/87426 - 2003 - Unilateral facial pain associated with recurrence of malignant thymoma: a case report
Rossi, P; Borrello, L; Malpezzi, Mg; Casali, Carlo; Pierelli, Francesco - 01a Articolo in rivista
paper: EUROPEAN NEUROLOGY (S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 56-57 - issn: 0014-3022 - wos: WOS:000183982400011 (3) - scopus: 2-s2.0-0038307370 (3)

11573/487393 - 2003 - Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.
Tessa, A; Salvi, S; Casali, Carlo; Garavelli, L; Digilio, Mc; Dotti, Mt; Di Giandomenico, S; Valoppi, M; Grieco, Gs; Comanducci, G; Bianchini, G; Fortini, D; Federico, A; Giannotti, A; Santorelli, Fm - 01a Articolo in rivista
paper: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 104- - issn: 1059-7794 - wos: (0) - scopus: 2-s2.0-20244364483 (31)

11573/254014 - 2002 - Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: An epidemiological study
C., Morocutti; Giovanni Battista, Colazza; Soldati, Giampiero; C., D'alessio; M., Damiano; Casali, Carlo; Pierelli, Francesco - 01a Articolo in rivista
paper: NEUROEPIDEMIOLOGY (S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 241-245 - issn: 0251-5350 - wos: WOS:000177910400005 (22) - scopus: 2-s2.0-0036038626 (28)

11573/251411 - 2002 - Electromyographic mixed nerve and cutaneous silent period in evaluating the A-delta fibres in a patient with hereditary sensory-autonomic neuropathy
F. M., Corsi; S., Fausti; Serrao, Mariano; Casali, Carlo; Parisi, Leoluca; G., Piazza - 01a Articolo in rivista
paper: FUNCTIONAL NEUROLOGY (CIC Edizioni Internazionali:Corso Trieste N 42, I 00198 Rome Italy:011 39 06 8412673, EMAIL: abbonamenti@gruppocic.it, INTERNET: http://www.gruppocic.it, Fax: 011 39 06 8412688) pp. 31-34 - issn: 0393-5264 - wos: WOS:000176298400006 (17) - scopus: 2-s2.0-0035986190 (20)

11573/117684 - 2002 - Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.
Patrono, C; Casali, Carlo; Tessa, A; Cricchi, F; Fortini, D; Carrozzo, R; Siciliano, G; Bertini, E; Santorelli, Fm - 01a Articolo in rivista
paper: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 200-5 - issn: 0340-5354 - wos: WOS:000173979800011 (17) - scopus: 2-s2.0-0036166840 (19)

11573/487401 - 2002 - Destructiveness representation in one boy with Becker Muscular Dystrophy [La rappresentazione della distruttività in un bambino affetto da distrofia muscolare di Becker]
Ricotta, G; Damiano, M; Celato, A; Craus, A; Morocutti, A; Benedetti, L; Casali, Carlo - 01a Articolo in rivista
paper: NUOVA RIVISTA DI NEUROLOGIA (Il Pensiero Scientifico Editore:via Bradano 3C, I 00199 Rome Italy:011 39 06 86282339, 011 39 6 86207159, EMAIL: abbonamenti@pensiero.it, INTERNET: http://www.pensiero.it/journals/, Fax: 011 39 06 86282250) pp. 29-34 - issn: 1122-035X - wos: (0) - scopus: 2-s2.0-0036193186 (0)

11573/250631 - 2002 - SPG3A: An additional family carrying a new atlastin mutation.
Tessa, A; Casali, Carlo; Damiano, M; Bruno, C; Fortini, D; Patrono, C; Cricchi, F; Valoppi, M; Nappi, G; Amabile, Giuseppe Amadio; Bertini, E; Santorelli, Fm - 01a Articolo in rivista
paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 2002-5 - issn: 0028-3878 - wos: WOS:000179931100037 (36) - scopus: 2-s2.0-0037168428 (43)

11573/118947 - 2002 - Antioxidant enzymes in blood of patients with Friedreich's ataxia
Tozzi, G; Nuccetelli, M; Lo Bello, M; Bernardini, S; Bellincampi, L; Ballerini, S; Gaeta, Lm; Casali, Carlo; Pastore, A; Federici, G; Bertini, E; Piemonte, F. - 01a Articolo in rivista
paper: ARCHIVES OF DISEASE IN CHILDHOOD (- London: BMJ Publishing Group - London: British Medical Association, 1926-) pp. 376-9 - issn: 0003-9888 - wos: WOS:000175391300018 (49) - scopus: 2-s2.0-0036245640 (52)

11573/117934 - 2001 - Advances in the genetics of spinocerebellar ataxias
Casali, Carlo - 01a Articolo in rivista
paper: FUNCTIONAL NEUROLOGY (CIC Edizioni Internazionali:Corso Trieste N 42, I 00198 Rome Italy:011 39 06 8412673, EMAIL: abbonamenti@gruppocic.it, INTERNET: http://www.gruppocic.it, Fax: 011 39 06 8412688) pp. 83-7 - issn: 0393-5264 - wos: WOS:000175030000011 (1) - scopus: 2-s2.0-0035544921 (1)

11573/361439 - 2001 - Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family.
Casali, Carlo; Bonifati, V; Santorelli, Fm; Casari, G; Fortini, D; Patrignani, A; Fabbrini, Giovanni; Carrozzo, R; D'amati, Giulia; Locuratolo, Nicoletta; Vanacore, N; Damiano, M; Pierallini, Alberto; Pierelli, Francesco; Amabile, Giuseppe Amadio; Meco, Giuseppe - 01a Articolo in rivista
paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 802-805 - issn: 0028-3878 - wos: WOS:000167697100026 (28) - scopus: 2-s2.0-0035957304 (30)

11573/487422 - 2001 - Genetics of migraine [Genetica dell'emicrania]
Casali, Carlo; Santorelli, Fm; Spadaro, M; Pierelli, Francesco - 01a Articolo in rivista
paper: CONFINIA CEPHALALGICA (Masson SPA:via Flli Bressan 2, I 20126 Milan Italy:011 39 02 27074286, EMAIL: aboonamenti@masson.it, INTERNET: http://www.masson.it, Fax: 011 39 02 27074210) pp. 53-55 - issn: 1122-0279 - wos: (0) - scopus: 2-s2.0-0347035291 (0)

11573/118896 - 2001 - The emerging concept of mitochondrial cardiomyopathies.
Filippo M., Santorelli; Alessandra, Tessa; G., D\'Amati; Casali, Carlo - 01a Articolo in rivista
paper: AMERICAN HEART JOURNAL (St. Louis: Elsevier [etc.]) pp. 5A-12A - issn: 0002-8703 - wos: (0) - scopus: 2-s2.0-18044380895 (35)

11573/117686 - 2001 - Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.
Gellera, C; Castellotti, B; Riggio, Mc; Silani, V; Morandi, L; Testa, D; Casali, Carlo; Taroni, F; Di Donato, S; Zeviani, M; Mariotti, C. - 01a Articolo in rivista
paper: NEUROMUSCULAR DISORDERS (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. 404-10 - issn: 0960-8966 - wos: WOS:000169306500009 (40) - scopus: 2-s2.0-0035036119 (48)

11573/29540 - 2001 - Respiratory chain defects in hereditary spastic paraplegias
Piemonte, F; Casali, Carlo; Carrozzo, R; Schagger, H; Patrono, C; Tessa, A; Tozzi, G; Cricchi, F; Di Capua, M; Siciliano, G; Amabile, Giuseppe Amadio; Morocutti, Cristoforo; Bertini, C; Santorelli, Fm - 01a Articolo in rivista
paper: NEUROMUSCULAR DISORDERS (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. 565-569 - issn: 0960-8966 - wos: WOS:000170822100008 (15) - scopus: 2-s2.0-0034883065 (17)

11573/117685 - 2001 - Glutathione in blood of patients with Friedreich's ataxia
Piemonte, F; Pastore, A; Tozzi, G; Tagliacozzi, D; Santorelli, Fm; Carrozzo, R; Casali, Carlo; Damiano, M; Federici, G; Bertini, E. - 01a Articolo in rivista
paper: EUROPEAN JOURNAL OF CLINICAL INVESTIGATION (Blackwell Science Limited:PO Box 88, Oxford OX2 0NE United Kingdom:011 44 1865 776868, 011 44 1865 206038, EMAIL: journals.cs@blacksci.co.uk, INTERNET: http://www.blackwell-science.com, Fax: 011 44 1865 721205) pp. 1007-11 - issn: 0014-2972 - wos: WOS:000172342900013 (147) - scopus: 2-s2.0-0035780208 (163)

11573/255097 - 2000 - mtDNA A3243G MELAS mutation is not associated with multigenerational female migraine.
Buzzi, Mg; Di Gennaro, G; D\'Onofrio, M; Ciccarelli, O; Santorelli, Fm; Fortini, D; Nappi, Giuseppe; Nicoletti, F; Casali, Carlo - 01a Articolo in rivista
paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 1005-1007 - issn: 0028-3878 - wos: WOS:000085362700048 (13) - scopus: 2-s2.0-0034701041 (20)

11573/117735 - 2000 - Combination of mtDNA mutations in a patient with a mitochondrial multisystem syndrome.
De Joanna, G; Santorelli, Fm; Casali, Carlo; Brescia Morra, V; Perretti, A; Santoro, - 01a Articolo in rivista
paper: JOURNAL OF HUMAN GENETICS (Springer, Tokyo) pp. 109-11 - issn: 1435-232X - wos: WOS:000085655400012 (2) - scopus: 2-s2.0-0034095466 (2)

11573/255865 - 2000 - Multiple mtDNA deletions: Clinical and molecular correlations
F. M., Santorelli; G., De Joanna; Casali, Carlo; A., Tessa; G., Siciliano; Amabile, Giuseppe Amadio; Pierelli, Francesco; L., Vilarinho; L., Santoro - 01a Articolo in rivista
paper: JOURNAL OF INHERITED METABOLIC DISEASE (Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254) pp. 155-161 - issn: 0141-8955 - wos: WOS:000085803300008 (5) - scopus: 2-s2.0-0034040515 (5)

11573/249834 - 2000 - Assessing the relative incidence of mitochondrial DNA A3243G in migraine without aura with maternal inheritance
G., Di Gennaro; M. G., Buzzi; O., Ciccarelli; F. M., Santorelli; Pierelli, Francesco; D., Fortini; M., D'onofrio; A., Costa; Nappi, Giuseppe; Casali, Carlo - 01a Articolo in rivista
paper: HEADACHE (Blackwell Science Incorporated:350 Main Street, Sixth Floor:Malden, MA 02148:(888)661-5800, (781)388-8250, EMAIL: csjournals@blacksci.com, INTERNET: http://www.blackwell-science.com, Fax: (781)388-8232) pp. 568-571 - issn: 0017-8748 - wos: WOS:000088380400008 (16) - scopus: 2-s2.0-0033931918 (16)

11573/254481 - 2000 - INTRAFAMILIAL VARIABILITY IN HEREDITARY SPASTIC PARAPLEGIA ASSOCIATED WITH AN SPG4 GENE MUTATION
Santorelli, F. C.; Patrono, C.; Fortini, D.; Tessa, A.; Comanducci, G.; Bertini, E.; Pierallini, Alberto; Amabile, Giuseppe Amadio; Casali, Carlo - 01a Articolo in rivista
paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 702-705 - issn: 0028-3878 - wos: WOS:000089484700020 (39) - scopus: 2-s2.0-0033821055 (41)

11573/117737 - 2000 - Chronic diarrhea associated with the A3243G mtDNA mutation.
Santorelli, Fm; Villanova, M; Malandrini, A; Grieco, Gs; Palmeri, S; Merlini, L; Casali, Carlo - 01a Articolo in rivista
paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 266-7 - issn: 0028-3878 - wos: WOS:000084727900057 (4) - scopus: 2-s2.0-0033982969 (5)

11573/117687 - 2000 - Uncoupling protein-1 mRNA expression in lipomas from patients bearing pathogenic mitochondrial DNA mutations.
Vila, Mr; Gamez, J; Solano, A; Playan, A; Schwartz, S; Santorelli, Fm; Cervera, C; Casali, Carlo; Montoya, J; Villarroya, F. - 01a Articolo in rivista
paper: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (San Diego [etc.]: Elsevier [etc.]) pp. 800-2 - issn: 0006-291X - wos: WOS:000165701900048 (28) - scopus: 2-s2.0-0034736071 (33)

11573/104300 - 1999 - Maternally inherited cardiomyopathy: clinical and molecula characterization of a large kindred harboring the A4300G point mutation in mtDNA
Casali, C; D'amati, G; Bernucci, P; De Biase, Luciano; Autore, C; Santorelli, Fm; Coviello, D; Gallo, P. - 01a Articolo in rivista
paper: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY ([New York N.Y.]: Elsevier Biomedical Philadelphia, PA: W B Saunders Company) pp. 1584-1589 - issn: 0735-1097 - wos: WOS:000081122700024 (21) - scopus: 2-s2.0-0033133413 (26)

11573/245399 - 1999 - Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family.
Casali, Carlo; Fabrizi, Gm; Santorelli, Fm; Colazza, G; Villanova, M; Dotti, Mt; Cavallaro, T; Cardaioli, E; Battisti, C; Manneschi, L; Digennaro, Gc; Fortini, D; Spadaro, M; Morocutti, Cristoforo; Federico, A. - 01a Articolo in rivista
paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 1103-4 - issn: 0028-3878 - wos: WOS:000079516900045 (27) - scopus: 2-s2.0-0033596843 (33)

11573/87050 - 1999 - Electro-oculographic findings in an unusual case of paramyotonia congenita
Colazza, G. B.; Casali, Carlo; Spadaro, M.; Di Gennaro, G.; Di Cesaria, V.; Pierelli, Francesco - 01a Articolo in rivista
paper: MUSCLE & NERVE (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 1157-1158 - issn: 0148-639X - wos: WOS:000081753300025 (3) - scopus: 2-s2.0-0032775226 (4)

11573/403278 - 1999 - [Mitochondrial diseases].
D'amati, Giulia; Casali, Carlo; Giordano, Carla - 01a Articolo in rivista
paper: PATHOLOGICA (Milano: Springer-Verlag Italia GENOA, ITALY :PATHOLOGICA, OSPEDALI GALLIERA, VIA MURA DELLE CAPPUCCINE, 14, GENOA, ITALY Ospedaletto Pisa Italy: Pacini Editore Srl) pp. 49-50 - issn: 0031-2983 - wos: (0) - scopus: 2-s2.0-0033071159 (1)

11573/117739 - 1999 - Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome
Di Gennaro, G; Condoluci, C; Casali, Carlo; Ciccarelli, O; Albertini, G. - 01a Articolo in rivista
paper: PEDIATRIC NEUROLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 566-8 - issn: 0887-8994 - wos: WOS:000082052800009 (38) - scopus: 2-s2.0-0032802685 (41)

11573/487423 - 1999 - Maternally inherited cardiomyopathy: An atypical presentation of the mtDNA 12S rRNA gene A1555G mutation
Filippo M., Santorelli; Kurenai, Tanji; Panagiota, Manta; Casali, Carlo; Sindu, Krishna; Arthur P., Hays; Donna M., Mancini; Salvatore, Dimauro; Michio, Hirano - 01a Articolo in rivista
paper: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 295-300 - issn: 0002-9297 - wos: WOS:000078477400036 (74) - scopus: (0)

11573/117736 - 1999 - Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association.
Mancuso, M; Bianchi, Mc; Santorelli, Fm; Tessa, A; Casali, Carlo; Murri, L; Siciliano, - 01a Articolo in rivista
paper: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 1197-8 - issn: 0340-5354 - wos: WOS:000084700500015 (5) - scopus: 2-s2.0-0033376479 (6)

11573/117738 - 1999 - MtDNA-related idiopathic dilated cardiomyopathy
Tessa, A; Vilarinho, L; Casali, Carlo; Santorelli, Fm - 01a Articolo in rivista
paper: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW -S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 847-8 - issn: 1018-4813 - wos: WOS:000084715800001 (12) - scopus: 2-s2.0-0033378668 (14)

11573/117742 - 1999 - Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjogren)
Villanova, M; Ceuterick, C; Dotti, Mt; Santorelli, Fm; Casali, Carlo; Malandrini, A; De Stefano, N; Lubke, U; Martin, Jj; Guazzi, Gc; Federico, A. - 01a Articolo in rivista
paper: ACTA NEUROPATHOLOGICA (Springer Verlag Germany: Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229 SPRINGER, 233 SPRING STREET, NEW YORK, USA, NY, 10013) pp. 78-84 - issn: 0001-6322 - wos: WOS:000080979300010 (4) - scopus: 2-s2.0-0033043535 (4)

11573/487427 - 1999 - Mitochondrial myopathy mimicking fibromyalgia syndrome.
Villanova, M; Selvi, E; Malandrini, A; Casali, Carlo; Santorelli, Fm; De Stefano, R; Marcolongo, R. - 01a Articolo in rivista
paper: MUSCLE & NERVE (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. - - issn: 0148-639X - wos: (0) - scopus: (0)

11573/243461 - 1999 - Molecular and clinical examination of an italian DEFECT 11 family.
Wuits, W.; Di Gennaro, G.; Bianco, Federico; Wauters, J.; Morocutti, Cristoforo; Pierelli, Francesco; Bossuyt, P.; Van Hul, W.; Casali, Carlo - 01a Articolo in rivista
paper: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW -S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 579-584 - issn: 1018-4813 - wos: WOS:000081933400010 (23) - scopus: 2-s2.0-0032787808 (24)

11573/87046 - 1998 - Aspetti genetici delle sindromi emicraniche: una review.
Casali, Carlo; Santorelli, F. M.; Spadaro, M.; Pierelli, Francesco - 01a Articolo in rivista
paper: CONFINIA CEPHALALGICA (Masson SPA:via Flli Bressan 2, I 20126 Milan Italy:011 39 02 27074286, EMAIL: aboonamenti@masson.it, INTERNET: http://www.masson.it, Fax: 011 39 02 27074210) pp. 79-90 - issn: 1122-0279 - wos: (0) - scopus: 2-s2.0-0031712154 (0)

11573/487433 - 1998 - Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses
R., Carrozzo; M., Hirano; B., Fromenty; Casali, Carlo; F. M., Santorelli; E., Bonilla; S., Dimauro; E. A., Schon; A. F., Miranda - 01a Articolo in rivista
paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 99-106 - issn: 0028-3878 - wos: (0) - scopus: 2-s2.0-0031882208 (68)

11573/487430 - 1998 - Genetic heterogeneity of myoclonus epilepsy with ragged-red fibers syndrome.
Santorelli, Fm; Casali, Carlo - 01a Articolo in rivista
paper: MUSCLE & NERVE (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. - - issn: 0148-639X - wos: (0) - scopus: (0)

11573/487434 - 1997 - Mitochondrial tRNA(Cys) gene mutation (A5814G): A second family with mitochondrial encephalopathy
F. M., Santorelli; G., Siciliano; Casali, Carlo; M. G., Basirico; R., Carrozzo; F., Calvosa; F., Sartucci; L., Bonfiglio; L., Murri; S., Dimauro - 01a Articolo in rivista
paper: NEUROMUSCULAR DISORDERS (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. 156-159 - issn: 0960-8966 - wos: WOS:A1997XC45100003 (27) - scopus: 2-s2.0-0030920721 (28)

11573/536092 - 1996 - Aspetti clinici e genetico molecolari delle cardiomiopatie mitocondriali. Necessità di un approccio multispecialistico
F., Calvosa; F. M., Santorelli; G., Ricci; D'amati, Giulia; Casali, Carlo - 01a Articolo in rivista
paper: NUOVA RIVISTA DI NEUROLOGIA (Il Pensiero Scientifico Editore:via Bradano 3C, I 00199 Rome Italy:011 39 06 86282339, 011 39 6 86207159, EMAIL: abbonamenti@pensiero.it, INTERNET: http://www.pensiero.it/journals/, Fax: 011 39 06 86282250) pp. X-164 - issn: 1122-035X - wos: (0) - scopus: 2-s2.0-4043050996 (0)

11573/487438 - 1996 - Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).
Santorelli, Fm; Mak, Sc; El Schahawi, M; Casali, Carlo; Shanske, S; Baram, Tz; Madrid, Re; Dimauro, S. - 01a Articolo in rivista
paper: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. - - issn: 0002-9297 - wos: (0) - scopus: (0)

11573/488184 - 1995 - A novel mtDNA point mutation in maternally inherited cardiomyopathy.
Casali, Carlo; Santorelli, Fm; D'amati, Giulia; Bernucci, P; De Biase, Luciano; Dimauro, S. - 01a Articolo in rivista
paper: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (San Diego [etc.]: Elsevier [etc.]) pp. 588-593 - issn: 0006-291X - wos: (0) - scopus: (0)

11573/488183 - 1995 - Infantile autosomal dominant distal myopathy.
Scoppetta, C; Casali, Carlo; La Cesa, I; Sermoni, A; Mercuri, B; Pierelli, Francesco; Vaccario, Ml - 01a Articolo in rivista
paper: ACTA NEUROLOGICA SCANDINAVICA (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 122-126 - issn: 0001-6314 - wos: (0) - scopus: (0)

11573/121976 - 1994 - Pathophysiology of hemimasticatory spasm.
Cruccu, G; Inghilleri, Maurizio; Berardelli, Alfredo; Pauletti, G; Casali, Carlo; Coratti, P; Frisardi, G; Thompson, Pd; Manfredi, Mario - 01a Articolo in rivista
paper: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY (BMJ / British Medical Journal Publishing Group:PO Box 299, London WC1H 9TD United Kingdom:011 44 20 73836270, EMAIL: subscriptions@bmjgroup.com, INTERNET: http://www.bmjpg.com/bmj, Fax: 011 44 20 73836402) pp. 43-50 - issn: 0022-3050 - wos: WOS:A1994MR19700010 (56) - scopus: 2-s2.0-0028107131 (77)

11573/488177 - 1991 - [Miller Fisher syndrome: review of the literature and presentation of 2 cases].
Scoppetta, C; Fontana, M; Quadrini, R; La Cesa, I; Di Lello, R; Peppe, A; Tolli, Vs; Casali, Carlo - 01a Articolo in rivista
paper: RIVISTA DI NEUROLOGIA (Il Pensiero Scientifico Editore:via Bradano 3C, I 00199 Rome Italy:011 39 06 86282339, 011 39 6 86207159, EMAIL: abbonamenti@pensiero.it, INTERNET: http://www.pensiero.it/journals/, Fax: 011 39 06 86282250) pp. 137-144 - issn: 0035-6344 - wos: (0) - scopus: (0)

11573/488175 - 1990 - [Nuclear magnetic resonance: a comfortable diagnosis].
Quadrini, R; La Cesa, I; Scarongella, P; De Angelis, D; Casali, Carlo - 01a Articolo in rivista
paper: RIVISTA DI NEUROLOGIA (Il Pensiero Scientifico Editore:via Bradano 3C, I 00199 Rome Italy:011 39 06 86282339, 011 39 6 86207159, EMAIL: abbonamenti@pensiero.it, INTERNET: http://www.pensiero.it/journals/, Fax: 011 39 06 86282250) pp. - - issn: 0035-6344 - wos: (0) - scopus: (0)

11573/488173 - 1990 - Repetitive stimulation in myasthenia gravis: decrementing response revealed by anticholinesterase drugs.
Scoppetta, C; Casali, Carlo; D'agostini, S; La Cesa, I; Parisi, L. - 01a Articolo in rivista
paper: ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114) pp. 122-124 - issn: 0013-4694 - wos: (0) - scopus: (0)

11573/488169 - 1989 - Pilomotor epilepsy
C., Scoppetta; Casali, Carlo; S., D'agostini; G., Amabile; C., Morocutti - 01a Articolo in rivista
paper: FUNCTIONAL NEUROLOGY (CIC Edizioni Internazionali:Corso Trieste N 42, I 00198 Rome Italy:011 39 06 8412673, EMAIL: abbonamenti@gruppocic.it, INTERNET: http://www.gruppocic.it, Fax: 011 39 06 8412688) pp. 283-286 - issn: 0393-5264 - wos: (0) - scopus: 2-s2.0-0024455153 (22)

11573/488171 - 1989 - Parkinson disease in farm workers.
Stefano, E; Casali, Carlo; Caporali, M; Sancesario, G; Morocutti, C. - 01a Articolo in rivista
paper: ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES (Masson SPA:via Flli Bressan 2, I 20126 Milan Italy:011 39 02 27074286, EMAIL: aboonamenti@masson.it, INTERNET: http://www.masson.it, Fax: 011 39 02 27074210) pp. 379- - issn: 0392-0461 - wos: (0) - scopus: (0)

11573/488168 - 1988 - [Inflammatory neuropathies].
Rizzo, Pa; Casali, Carlo; D'agostini, S; Peppe, A; Sanarelli, L; Scoppetta, C. - 01a Articolo in rivista
paper: RIVISTA DI NEUROLOGIA (Il Pensiero Scientifico Editore:via Bradano 3C, I 00199 Rome Italy:011 39 06 86282339, 011 39 6 86207159, EMAIL: abbonamenti@pensiero.it, INTERNET: http://www.pensiero.it/journals/, Fax: 011 39 06 86282250) pp. 56-64 - issn: 0035-6344 - wos: (0) - scopus: (0)

11573/392124 - 1988 - Inflammatory myopathies
Scoppetta, C.; Casali, Carlo; D'agostini, S.; Pauri, Flavia; Amabile, Giuseppe Amadio - 01a Articolo in rivista
paper: RIVISTA DI NEUROLOGIA (Il Pensiero Scientifico Editore:via Bradano 3C, I 00199 Rome Italy:011 39 06 86282339, 011 39 6 86207159, EMAIL: abbonamenti@pensiero.it, INTERNET: http://www.pensiero.it/journals/, Fax: 011 39 06 86282250) pp. 11-14 - issn: 0035-6344 - wos: WOS:A1988P739500009 (4) - scopus: 2-s2.0-0023673481 (0)

11573/488167 - 1986 - Neonatal myasthenia gravis: clinical and immunological study of seven mothers and their newborn infants.
E., Bartoccioni; A., Evoli; Casali, Carlo; C., Scoppetta; P., Tonali; C., Provenzano - 01a Articolo in rivista
paper: JOURNAL OF NEUROIMMUNOLOGY (Amsterdam ; Lausanne ; New York ; Oxford ; Shannon ; Tokyo : Elsevier) pp. 155-161 - issn: 0165-5728 - wos: (0) - scopus: (0)

11573/488166 - 1985 - Dermatomyositis spares extraocular muscles.
C., Scoppetta; M., Morante; Casali, Carlo; M. L., Vaccario; G., Mennuni - 01a Articolo in rivista
paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. - - issn: 0028-3878 - wos: (0) - scopus: (0)

11573/488162 - 1984 - Difficult diagnosis of Eaton-Lambert myasthenic syndrome.
C., Scoppetta; Casali, Carlo; M. L., Vaccario; C., Provenzano - 01a Articolo in rivista
paper: MUSCLE & NERVE (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 680-681 - issn: 0148-639X - wos: (0) - scopus: (0)

11573/488161 - 1984 - Hereditary coproporphyria: unusual nervous system involvement in two cases.
Casali, Carlo; M., Lo Monaco; L., D'alessandro; D., Griso; A., Amantea; G. C., Topi; P., Tonali - 01a Articolo in rivista
paper: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 99-101 - issn: 0340-5354 - wos: (0) - scopus: (0)

11573/488160 - 1984 - Distal muscular dystrophy with autosomal recessive inheritance.
Ciriaco, Scoppetta; Maria Luigia, Vaccario; Casali, Carlo; G., Di Trapani; Gioacchino, Mennuni - 01a Articolo in rivista
paper: MUSCLE & NERVE (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 478-481 - issn: 0148-639X - wos: (0) - scopus: (0)

11573/488158 - 1984 - Peripheral nerve findings in hereditary coproporphyria. Light and ultrastructural studies in two sural nerve biopsies.
G., Di Trapani; Casali, Carlo; P., Tonali; G. C., Topi - 01a Articolo in rivista
paper: ACTA NEUROPATHOLOGICA (Springer Verlag Germany: Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229 SPRINGER, 233 SPRING STREET, NEW YORK, USA, NY, 10013) pp. 96-107 - issn: 0001-6322 - wos: (0) - scopus: (0)

11573/488164 - 1984 - [Familial amyloid polyneuropathy. Description of 2 cases treated with dimethylsulfoxide].
Sabatelli, M; Casali, Carlo; Scoppetta, C; Frustaci, A; Tonali, P. - 01a Articolo in rivista
paper: RIVISTA DI NEUROBIOLOGIA (-Arezzo, Ospedale neuropsichiatrico provinciale. -Editrice Pisani:Cas Post 64, 03036 Isola Liri,Ospedale Di S. Camillo. Fr Italy:011 39 0776 808036, Fax: 011 39 0776 808571) pp. 261-267 - issn: 0035-6336 - wos: (0) - scopus: (0)

11573/488151 - 1982 - Congenita myasthenia gravis.
C., Scoppetta; Casali, Carlo; M., Piantelli - 01a Articolo in rivista
paper: MUSCLE & NERVE (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 493-494 - issn: 0148-639X - wos: (0) - scopus: (0)

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