11573/1717315 - 2024 -
BCL11B-Related Dystonia: Further Evidence of an Emerging Cause of Childhood-Onset Generalized Dystonia Garone, G.; Capuano, A.; Amodio, D.; Nicita, F.; Travaglini, L.; Graziola, F.; De Benedictis, A.; Frascarelli, F.; Parisi, P.; Pizzi, S.; Tartaglia, M.; Marras, C. E.; Niceta, M. - 01a Articolo in rivista
rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 897-901 - issn: 2330-1619 - wos: WOS:001231782600001 (0) - scopus: 2-s2.0-85194700739 (0)
11573/1717316 - 2024 -
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology. Garone, G.; Innocenti, A.; Grasso, M.; Mandarino, A.; Capuano, A.; Della Bella, G.; Frascarelli, F.; Diodato, D.; Onesimo, R.; Zampino, G.; Novelli, A.; Digilio, M. C.; Bartuli, A.; Dentici, M. L.; Parisi, P.; Galosi, S.; Tonduti, D.; Bertini, E.; Sinibaldi, L.; Specchio, N. - 01a Articolo in rivista
rivista: PARKINSONISM & RELATED DISORDERS ([S.l.] : Elsevier Science) pp. 1-5 - issn: 1873-5126 - wos: WOS:001281943300001 (0) - scopus: 2-s2.0-85199495963 (0)
11573/1710311 - 2024 -
Pediatric torticollis: clinical report and predictors of urgency of 1409 cases Raucci, Umberto; Roversi, Marco; Ferretti, Alessandro; Faccia, Valerio; Garone, Giacomo; Panetta, Fabio; Mariani, Carlo; Rizzotto, Eloisa; Torelli, Antonio; Colafati, Giovanna Stefania; Aulisa, Angelo Gabriele; Parisi, Pasquale; Villani, Alberto - 01a Articolo in rivista
rivista: THE ITALIAN JOURNAL OF PEDIATRICS (London : BioMed Central
Ospedaletto : Pacini Editore) pp. - - issn: 1824-7288 - wos: WOS:001207714900002 (0) - scopus: 2-s2.0-85191332595 (0)
11573/1724441 - 2024 -
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms Sartorelli, J.; Travaglini, L.; Macchiaiolo, M.; Garone, G.; Gonfiantini, M. V.; Vecchio, D.; Sinibaldi, L.; Frascarelli, F.; Ceccatelli, V.; Petrillo, S.; Piemonte, F.; Piccolo, G.; Novelli, A.; Longo, D.; Pro, S.; D'amico, A.; Bertini, E. S.; Nicita, F. - 01a Articolo in rivista
rivista: GENES (Basel : Molecular Diversity Preservation International) pp. - - issn: 2073-4425 - wos: WOS:001222274000001 (0) - scopus: 2-s2.0-85191520005 (1)
11573/1697336 - 2023 -
Acute pupillary disorders in children: a 10-year retrospective study of 101 patients Garone, Giacomo; Roversi, Marco; Pisani, Mara; La Penna, Francesco; Musolino, Antonio; Cristaldi, Sebastian; Musolino, Anna Maria; Roberto, Amanda; Petrocelli, Gianni; Reale, Antonino; Midulla, Fabio; Villani, Alberto; Raucci, Umberto - 01a Articolo in rivista
rivista: CHILDREN (Basel: MDPI AG, 2014-) pp. - - issn: 2227-9067 - wos: WOS:001120723500001 (0) - scopus: 2-s2.0-85178149857 (0)
11573/1691726 - 2023 -
Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies Van Der Veen, Sterre; Tse, Gabrielle T W; Ferretti, Alessandro; Garone, Giacomo; Post, Bart; Specchio, Nicola; Fung, Victor S C; Trivisano, Marina; Scheffer, Ingrid E - 01a Articolo in rivista
rivista: NEUROLOGY (Wolters Kluwer
Hagerstown MD: Lippincott Williams & Wilkins
Cleveland Ohio: Advanstar Communications) pp. 1884-1892 - issn: 0028-3878 - wos: WOS:001096235900016 (6) - scopus: 2-s2.0-85176508439 (6)
11573/1656386 - 2022 -
“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats Graziola, F.; Maffi, S.; Grasso, M.; Garone, G.; Migliore, S.; Scaricamazza, E.; Ceccarelli, C.; Casella, M.; Busi, L.; D'alessio, B.; De Luca, A.; Colafati, G. S.; Sabatini, U.; Capuano, A.; Squitieri, F. - 01a Articolo in rivista
rivista: JOURNAL OF PERSONALIZED MEDICINE (Basel: MDPI AG, 2011-) pp. 120- - issn: 2075-4426 - wos: WOS:000746970100001 (1) - scopus: 2-s2.0-85123173737 (2)
11573/1656388 - 2022 -
Highlighting the Dystonic Phenotype Related to GNAO1 Wirth, Thomas; Garone, Giacomo; Kurian, Manju A; Piton, Amélie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; Rudolf, Gabrielle; Chelly, Jamel; Marks, Warren; Burglen, Lydie; Demailly, Diane; Coubes, Phillipe; Castro-Jimenez, Mayte; Joriot, Sylvie; Ghoumid, Jamal; Belin, Jérémie; Faucheux, Jean-Marc; Blumkin, Lubov; Hull, Mariam; Parnes, Mered; Ravelli, Claudia; Poulen, Gaëtan; Calmels, Nadège; Nemeth, Andrea H; Smith, Martin; Barnicoat, Angela; Ewenczyk, Claire; Méneret, Aurélie; Roze, Emmanuel; Keren, Boris; Mignot, Cyril; Beroud, Christophe; Acosta, Fernando; Nowak, Catherine; Wilson, William G; Steel, Dora; Capuano, Alessandro; Vidailhet, Marie; Lin, Jean-Pierre; Tranchant, Christine; Cif, Laura; Doummar, Diane; Anheim, Mathieu - 01a Articolo in rivista
rivista: MOVEMENT DISORDERS (New York, N.Y. : John Wiley & Sons) pp. 1547-1554 - issn: 1531-8257 - wos: WOS:000812966100001 (1) - scopus: 2-s2.0-85132116614 (26)
Garone, G.; Graziola, F.; Grasso, M.; Capuano, A. - 01a Articolo in rivista
rivista: JOURNAL OF CLINICAL MEDICINE (MDPI Publishing, Basel, Switzerland) pp. 2671- - issn: 2077-0383 - wos: WOS:000666521600001 (0) - scopus: 2-s2.0-85114067761 (3)
11573/1537309 - 2021 -
Acute strabismus in neurological emergencies of childhood: a retrospective, single-centre study Garone, Giacomo; Ferro, Valentina; Barbato, Marta; Vanacore, Nicola; Papini, Laura; Pro, Stefano; Boni, Alessandra; Scialanga, Barbara; Nacca, Raffaella; Evangelisti, Melania; Di Nardo, Giovanni; Parisi, Pasquale; Raucci, Umberto - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876) pp. 80-85 - issn: 1090-3798 - wos: WOS:000655667500015 (2) - scopus: 2-s2.0-85104064621 (4)
11573/1656381 - 2021 -
Cognitive assessment in GNAO1 neurodevelopmental disorder using an eye tracking system Graziola, F.; Garone, G.; Grasso, M.; Capuano, A. - 01a Articolo in rivista
rivista: JOURNAL OF CLINICAL MEDICINE (MDPI Publishing, Basel, Switzerland) pp. 3541- - issn: 2077-0383 - wos: WOS:000689261900001 (2) - scopus: 2-s2.0-85112217357 (8)
11573/1656380 - 2021 -
Working memory, attention and planning abilities in NKX2.1-related chorea Graziola, F.; Garone, G.; Grasso, M.; Schirinzi, T.; Capuano, A. - 01a Articolo in rivista
rivista: 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. 24-27 - issn: 1353-8020 - wos: (0) - scopus: 2-s2.0-85108178739 (4)
11573/1580405 - 2021 -
Cognitive deficits in children with brain tumours: A project to create a software for cognitive training Mastronuzzi, Angela; Secco, Domitilla Elena; Laus, Beatrice; Carai, Andrea; Tozzi, Alberto; Premuselli, Roberto; Delli Priscoli, Francesco; Pietrabissa, Antonio; Giuseppi, Alessandro; Menegatti, Danilo; Rizzotto, Eloisa; Garone, Giacomo; Sciancalepore, Francesco; Lacorte, Eleonora; Tariciotti, Leonardo; Remoli, Giulia; Vanacore, Nicola; Raucci, Umberto - 04d Abstract in atti di convegno
rivista: 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. 161-161 - issn: 0022-510X - wos: WOS:000713637301270 (0) - scopus: (0)
congresso: World Congress of Neurology (WCN 2021) (Rome, Italy)
libro: Abstracts from the World Congress of Neurology (WCN 2021) - ()
11573/1656385 - 2020 -
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations Barresi, S.; Dentici, M. L.; Manzoni, F.; Bellacchio, E.; Agolini, E.; Pizzi, S.; Ciolfi, A.; Tarnopolsky, M.; Brady, L.; Garone, G.; Novelli, A.; Mei, D.; Guerrini, R.; Capuano, A.; Pantaleoni, C.; Tartaglia, M. - 01a Articolo in rivista
rivista: 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. 40-45 - issn: 0887-8994 - wos: WOS:000517670500007 (11) - scopus: 2-s2.0-85076242925 (21)
11573/1656376 - 2020 -
Alternating hemiplegia of childhood: Understanding the genotype–phenotype relationship of ATP1A3 variations Capuano, A.; Garone, G.; Tiralongo, G.; Graziola, F. - 01a Articolo in rivista
rivista: THE APPLICATION OF CLINICAL GENETICS ([Auckland, N.Z.] : Dove Medical Press, c2008-) pp. 71-81 - issn: 1178-704X - wos: WOS:000525747300001 (12) - scopus: 2-s2.0-85083856254 (24)
11573/1656379 - 2020 -
Clinical and genetic overview of paroxysmal movement disorders and episodic ataxias Garone, G.; Capuano, A.; Travaglini, L.; Graziola, F.; Stregapede, F.; Zanni, G.; Vigevano, F.; Bertini, E.; Nicita, F. - 01a Articolo in rivista
rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel (Matthaeustrasse 11) : Molecular Diversity Preservation International MDPI) pp. 3603- - issn: 1661-6596 - wos: WOS:000539312100199 (18) - scopus: 2-s2.0-85085265781 (44)
11573/1656387 - 2020 -
Prestatus and status dystonicus in children and adolescents Garone, G.; Graziola, F.; Nicita, F.; Frascarelli, F.; Randi, F.; Zazza, M.; Cantonetti, L.; Cossu, S.; Marras, C. E.; Capuano, A. - 01a Articolo in rivista
rivista: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (Cambridge University Press / New York:40 West 20th Street:New York, NY 10011:(800)872-7423, (212)924-3900, EMAIL: journals_subscriptions@cup.org, INTERNET: http://www.journals.cambridge.org, Fax: (212)691-3239) pp. 742-749 - issn: 0012-1622 - wos: WOS:000502462900001 (7) - scopus: 2-s2.0-85076756085 (13)
11573/1472362 - 2020 -
Characteristics of acute nystagmus in the pediatric emergency department Garone, G.; Suppiej, A.; Vanacore, N.; La Penna, F.; Parisi, P.; Calistri, L.; Palmieri, A.; Verrotti, A.; Poletto, E.; Rossetti, A.; Cordelli, D. M.; Velardita, M.; D'alonzo, R.; De Liso, P.; Gioe, D.; Marin, M.; Zagaroli, L.; Grosso, S.; Bonfatti, R.; Mencaroni, E.; Masi, S.; Bellelli, E.; Da Dalt, L.; Raucci, U. - 01a Articolo in rivista
rivista: PEDIATRICS (American Academy of Pediatrics:141 Northwest Point Boulevard:Elk Grove Village, IL 60007:(800)433-9016, (847)434-4000, EMAIL: journals@aap.org, INTERNET: http://www.aap.org, Fax: (847)434-8000) pp. - - issn: 0031-4005 - wos: WOS:000562983100048 (7) - scopus: 2-s2.0-85089112069 (9)
11573/1656382 - 2020 -
Impact of Italian lockdown on Tourette's syndrome patients at the time of the COVID-19 pandemic Graziola, F.; Garone, G.; Di Criscio, L.; Grasso, M.; Curatolo, P.; Vigevano, F.; Capuano, A. - 01a Articolo in rivista
rivista: PSYCHIATRY AND CLINICAL NEUROSCIENCES (-MALDEN:WILEY-BLACKWELL PUBLISHING, INC.
-Carlton, Vic. : Blackwell Science, 1995-) pp. 610-612 - issn: 1323-1316 - wos: WOS:000564865000001 (7) - scopus: 2-s2.0-85090088218 (15)
Garone, G.; Graziola, F.; Vigevano, F.; Capuano, A. - 01i Case report
rivista: NEUROPEDIATRICS (Hippokrates Verlag GmbH:Postfach 300504, D-70445 Stuttgart Germany:011 49 711 89310, Fax: 011 49 711 8931706) pp. 262-263 - issn: 0174-304X - wos: WOS:000477664200009 (0) - scopus: 2-s2.0-85069189007 (0)
11573/1276660 - 2019 -
Acute ataxia in paediatric emergency departments: a multicentre Italian study Garone, Giacomo; Reale, Antonino; Vanacore, Nicola; Parisi, Pasquale; Bondone, Claudia; Suppiej, Agnese; Brisca, Giacomo; Calistri, Lucia; Cordelli, Duccio Maria; Savasta, Salvatore; Grosso, Salvatore; Midulla, Fabio; Falsaperla, Raffaele; Verrotti, Alberto; Bozzola, Elena; Vassia, Cristina; Da Dalt, Liviana; Maggiore, Rosario; Masi, Stefano; Maltoni, Lucia; Foiadelli, Thomas; Rossetti, Annalisa; Greco, Carla Maria; Marino, Silvia; Di Paolantonio, Claudia; Papetti, Laura; Urbino, Antonio Francesco; Rossi, Rossella; Raucci, Umberto - 01a Articolo in rivista
rivista: ARCHIVES OF DISEASE IN CHILDHOOD (- London: BMJ Publishing Group
- London: British Medical Association, 1926-) pp. - - issn: 0003-9888 - wos: WOS:000477897000014 (13) - scopus: 2-s2.0-85064006991 (32)
11573/1656374 - 2019 -
Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study Graziola, F.; Garone, G.; Stregapede, F.; Bosco, L.; Vigevano, F.; Curatolo, P.; Bertini, E.; Travaglini, L.; Capuano, A. - 01a Articolo in rivista
rivista: FRONTIERS IN GENETICS (Lausanne : Frontiers Research Foundation, 2010-) pp. - - issn: 1664-8021 - wos: WOS:000496133200001 (15) - scopus: 2-s2.0-85074775652 (22)
11573/1656377 - 2019 -
A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder Graziola, F.; Stregapede, F.; Travaglini, L.; Garone, G.; Verardo, M.; Bosco, L.; Pro, S.; Bertini, E.; Curatolo, P.; Vigevano, F.; Capuano, A. - 01i Case report
rivista: 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. 4-6 - issn: 1353-8020 - wos: WOS:000468719900002 (14) - scopus: 2-s2.0-85064595562 (21)
11573/1227265 - 2019 -
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review Schirinzi, Tommaso; Garone, Giacomo; Travaglini, Lorena; Vasco, Gessica; Galosi, Serena; Rios, Loreto; Castiglioni, Claudia; Barassi, Claudia; Battaglia, Domenica; Luigia Gambardella, Maria; Cantonetti, Laura; Graziola, Federica; Efisio Marras, Carlo; Castelli, Enrico; Bertini, Enrico; Capuano, Alessandro; Leuzzi, Vincenzo - 01g Articolo di rassegna (Review)
rivista: 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. 19-25 - issn: 1353-8020 - wos: WOS:000468719900005 (53) - scopus: 2-s2.0-85059734550 (63)
11573/1199648 - 2018 -
A cohort study on acute ocular motility disorders in pediatric emergency department Raucci, Umberto; Parisi, Pasquale; Vanacore, Nicola; Ferro, Valentina; Garone, Giacomo; Sancetta, Federica; Petroni, Sergio; Pro, Stefano; Rossi, Rossella; Reale, Antonino; Pirozzi, Nicola - 01a Articolo in rivista
rivista: THE ITALIAN JOURNAL OF PEDIATRICS (London: BioMed Central Ltd. 2008-
-Pacini Editore) pp. 62-71 - issn: 1720-8424 - wos: WOS:000433930300002 (3) - scopus: 2-s2.0-85047728893 (3)
11573/1199625 - 2018 -
Acute hyperkinetic movement disorders in Italian paediatric emergency departments Raucci, Umberto; Parisi, Pasquale; Vanacore, Nicola; Garone, Giacomo; Bondone, Claudia; Palmieri, Antonella; Calistri, Lucia; Suppiej, Agnese; Falsaperla, Raffaele; Capuano, Alessandro; Ferro, Valentina; Urbino, Antonio Francesco; Tallone, Ramona; Montemaggi, Alessandra; Sartori, Stefano; Pavone, Piero; Mancardi, Margherita; Melani, Federico; Ilvento, Lucrezia; Pelizza, Maria Federica; Reale, Antonino - 01a Articolo in rivista
rivista: ARCHIVES OF DISEASE IN CHILDHOOD (- London: BMJ Publishing Group
- London: British Medical Association, 1926-) pp. 790-794 - issn: 0003-9888 - wos: WOS:000440170800019 (12) - scopus: 2-s2.0-85049222173 (11)
11573/856715 - 2016 -
Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region Nicita, Francesco; Garone, Giacomo; Spalice, Alberto; Savasta, Salvatore; Striano, Pasquale; Pantaleoni, Chiara; Spartà, Maria Valentina; Kluger, Gerhard; Capovilla, Giuseppe; Pruna, Dario; Freri, Elena; D'arrigo, Stefano; Verrotti, Alberto - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 148-55-155 - issn: 1552-4825 - wos: WOS:000367933600019 (25) - scopus: 2-s2.0-84955472591 (22)
11573/931351 - 2016 -
The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome Papetti, Laura; Schettini, Livia; Garone, Giacomo; Gennaro, Elena; Malacarne, Michela; Properzi, Enrico; Spalice, Alberto - 01f Lettera, Nota
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 3041-3042 - issn: 1552-4825 - wos: WOS:000388195300039 (4) - scopus: 2-s2.0-84969932836 (4)
11573/856713 - 2015 -
Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy Nicita, Francesco; Garone, Giacomo; Papetti, Laura; Consoli, Federica; Magliozzi, Monia; De Luca, Alessandro; Spalice, Alberto - 01a Articolo in rivista
rivista: JOURNAL OF NEUROGENETICS (Taylor & Francis Limited:Rankine Road, Basingstoke RG24 8PR United Kingdom:011 44 1256 813035, EMAIL: madeline.sims@tandf.co.uk, info@tandf.co.uk, INTERNET: http://www.tandf.co.uk, Fax: 011 44 1256 330245) pp. 178-82-182 - issn: 0167-7063 - wos: WOS:000369293800004 (1) - scopus: 2-s2.0-84956766615 (1)
11573/856716 - 2015 -
Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1 Nicita, Francesco; Ulgiati, Fiorenza; Bernardini, Laura; Garone, Giacomo; Papetti, Laura; Novelli, Antonio; Spalice, Alberto - 01a Articolo in rivista
rivista: ANNALS OF HUMAN GENETICS (Cambridge : Cambridge University Press 1954-
Oxford : Blackwell Science,) pp. 209-217 - issn: 1469-1809 - wos: WOS:000353646400006 (11) - scopus: 2-s2.0-84946727775 (11)
11573/788376 - 2015 -
Severe early onset ethylmalonic encephalopathy with west syndrome Papetti, Laura; Garone, Giacomo; Schettini, Laura; Giordano, Carla; Nicita, Francesco; Papoff, Paola; Zeviani, M; Leuzzi, Vincenzo; Spalice, Alberto - 01i Case report
rivista: METABOLIC BRAIN DISEASE (Plenum Press:Book Customer Service, 233 Spring Street:New York, NY 10013:(212)620-8471, (212)620-8000, EMAIL: info@plenum.com, INTERNET: http://www.plenum.com, Fax: (212)807-1047) pp. 1537-1545 - issn: 0885-7490 - wos: WOS:000365086600025 (12) - scopus: 2-s2.0-84947030750 (13)