Galosi Serena

Ricercatore universitario

email: serena.galosi@uniroma1.it

Produzione scientifica

11573/1710541 - 2024 - Misdiagnosis of functional neurological symptom disorders in paediatrics: Narrative review and relevant case report

Baglioni, Valentina; Esposito, Dario; Bernardi, Katerina; Novelli, Maria; Zaccaria, Valerio; Galosi, Serena; Pisani, Francesco - 01i Case report

rivista: CLINICAL CHILD PSYCHOLOGY AND PSYCHIATRY (London: SAGE Publications) pp. - - issn: 1359-1045 - wos: WOS:001189073500001 (2) - scopus: 2-s2.0-85188460247 (1)

11573/1721004 - 2024 - CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report

De Riggi, Martina; De Giorgi, Agnese; Pollini, Luca; Angelini, Luca; Paparella, Giulia; Cannavacciuolo, Antonio; Birreci, Daniele; Costa, Davide; Tessa, Alessandra; Natale, Gemma; Fiorelli, Marco; Galatolo, Daniele; Santorelli, Filippo Maria; Galosi, Serena; Bologna, Matteo - 01i Case report

rivista: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. - - issn: 1473-4230 - wos: WOS:001314854000001 (0) - scopus: 2-s2.0-85204207101 (0)

11573/1720256 - 2024 - Biallelic variants of MRPS36 cause a new form of Leigh syndrome

Galosi, Serena; Mancini, Cecilia; Commone, Anna; Calligari, Paolo; Caputo, Viviana; Nardecchia, Francesca; Carducci, Claudia; Van Den Heuvel, Lambertus P.; Pizzi, Simone; Bruselles, Alessandro; Niceta, Marcello; Martinelli, Simone; Rodenburg, Richard J.; Tartaglia, Marco; Leuzzi, Vincenzo - 01i Case report

rivista: 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. 1225-1231 - issn: 0885-3185 - wos: WOS:001209566600001 (0) - scopus: 2-s2.0-85192080247 (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)

11573/1719123 - 2024 - Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes

Novelli, Maria; Tolve, Manuela; Quiroz, Vicente; Carducci, Claudia; Bove, Rossella; Ricciardi, Giacomina; Yang, Kathryn; Manti, Filippo; Pisani, Francesco; Ebrahimi‐Fakhari, Darius; Galosi, Serena; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 1072-1084 - issn: 2330-1619 - wos: (0) - scopus: 2-s2.0-85198383431 (0)

11573/1710542 - 2024 - Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency

Pollini, Luca; Greco, Carlo; Novelli, Maria; Mei, Davide; Pisani, Francesco; De Koning-Tijssen, Marina A J; Guerrini, Renzo; Leuzzi, Vincenzo; Galosi, Serena - 01i Case report

rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 434-437 - issn: 2330-1619 - wos: WOS:001154815500001 (0) - scopus: 2-s2.0-85183859952 (0)

11573/1724790 - 2024 - Caratterizzazione fenotipica ed outcome della forma recessiva di DYT/PARKGCH1

Ricciardi, Giacomina; Novelli, Maria; Tolve, Manuela; Quiroz, Vicente; Carducci, Claudia; Bove, Rossella; Yang, Kathryn; Manti, Filippo; Pisani, Francesco; Ebrahimi-Fakhari, Darius; Galosi, Serena; Leuzzi, Vincenzo - 04f Poster

congresso: XIV Congresso Nazionale SIMMESN (Montesilvano)

libro: XIV Congresso Nazionale SIMMESN - ()

11573/1698111 - 2023 - Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease

Di Rocco, Martina; Galosi, Serena; Follo, Francesca C.; Lanza, Enrico; Folli, Viola; Martire, Alberto; Leuzzi, Vincenzo; Martinelli, Simone - 01a Articolo in rivista

rivista: GENES (Basel : Molecular Diversity Preservation International) pp. - - issn: 2073-4425 - wos: WOS:000939907000001 (7) - scopus: 2-s2.0-85148900984 (6)

11573/1711079 - 2023 - GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum

Galosi, Serena; Novelli, M; Di Rocco, M; Flex, E; Messina, E; Pollini, Luca; Parrini, E; Pisani, F; Guerrini, Renzo; Leuzzi, V; Martinelli, S - 01f Lettera, Nota

rivista: MOVEMENT DISORDERS (New York, N.Y. : John Wiley & Sons) pp. 2313-2314 - issn: 1531-8257 - wos: WOS:001063564300001 (3) - scopus: 2-s2.0-85168895621 (4)

11573/1671373 - 2023 - Psychogenic non-epileptic seizures and functional motor disorders in developmental age: A comparison of clinical and psychopathological features

Gigliotti, F.; Di Santo, F.; Cesario, S.; Esposito, D.; Manti, F.; Galosi, S.; Ferrara, M.; Leuzzi, V.; Baglioni, V. - 01a Articolo in rivista

rivista: EPILEPSY & BEHAVIOR ([San Diego, CA] : Elsevier B.V., c2000- San Diego, CA : Academic Press, c2000-) pp. - - issn: 1525-5050 - wos: WOS:000992885000001 (3) - scopus: 2-s2.0-85148345451 (4)

11573/1705193 - 2023 - GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments

Novelli, Maria; Galosi, Serena; Zorzi, Giovanna; Martinelli, Simone; Capuano, Alessandro; Nardecchia, Francesca; Granata, Tiziana; Pollini, Luca; Di Rocco, Martina; Marras, Carlo Efisio; Nardocci, Nardo; 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. - - issn: 1353-8020 - wos: WOS:001010021100001 (15) - scopus: 2-s2.0-85154532335 (16)

11573/1689252 - 2023 - The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans

Pannone, Luca; Muto, Valentina; Nardecchia, Francesca; Di Rocco, Martina; Marchei, Emilia; Tosato, Federica; Petrini, Stefania; Onorato, Giada; Lanza, Enrico; Bertuccini, Lucia; Manti, Filippo; Folli, Viola; Galosi, Serena; Di Schiavi, Elia; Leuzzi, Vincenzo; Tartaglia, Marco; Martinelli, Simone - 01a Articolo in rivista

rivista: FRONTIERS IN MOLECULAR NEUROSCIENCE (Lausanne: Frontiers Research Foundation, 2008-) pp. - - issn: 1662-5099 - wos: WOS:001005651400001 (1) - scopus: 2-s2.0-85162031200 (1)

11573/1692508 - 2023 - Bradykinesia and dystonia

Paparella, Giulia; Guerra, Andrea; Galosi, Serena; Cannavacciuolo, Antonio; Angelini, Luca; Popa, Traian; Berardelli, Alfredo; Bologna, Matteo - 01g Articolo di rassegna (Review)

rivista: DYSTONIA (Lausanne Switzerland: Frontiers Media SA, [2022]-) pp. - - issn: 2813-2106 - wos: (0) - scopus: (0)

11573/1624296 - 2022 - Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy

De Maria, B.; Balestrini, S.; Mei, D.; Melani, F.; Pellacani, S.; Pisano, T.; Rosati, A.; Scaturro, G. M.; Giordano, L.; Cantalupo, G.; Fontana, E.; Zammarchi, C.; Said, E.; Leuzzi, V.; Mastrangelo, M.; Galosi, S.; Parrini, E.; Guerrini, R. - 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. 522-533 - issn: 1552-4825 - wos: WOS:000712329100001 (19) - scopus: 2-s2.0-85118224380 (18)

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

rivista: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 1476-1484 - issn: 0340-5354 - wos: WOS:000675768200002 (5) - scopus: 2-s2.0-85111109016 (6)

11573/1624291 - 2022 - Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia

Di Rocco, Martina; Galosi, Serena; Lanza, Enrico; Tosato, Federica; Caprini, Davide; Folli, Viola; Friedman, Jennifer; Bocchinfuso, Gianfranco; Martire, Alberto; Di Schiavi, Elia; Leuzzi, Vincenzo; Martinelli, Simone - 01a Articolo in rivista

rivista: HUMAN MOLECULAR GENETICS ONLINE (Oxford: Oxford University Press.) pp. 929-941 - issn: 1460-2083 - wos: WOS:000790097100001 (30) - scopus: 2-s2.0-85127521846 (30)

11573/1656558 - 2022 - A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Elisa, Calì; Sheng-Jia, Lin; Clarissa, Rocca; Yavuz, Sahin; Aisha, Al Shamsi; Salima, El Chehadeh; Myriam, Chaabouni; Kshitij, Mankad; Evangelia, Galanaki; Stephanie, Efthymiou; Sniya, Sudhakar; Alkyoni, Athanasiou-Fragkouli; Tamer, Çelik; Nejat, Narlı; Sebastiano, Bianca; David, Murphy; Francisco Martins, De Carvalho Moreira; Null, Andrea Accogli; Cassidy, Petree; Kevin, Huang; Kamel, Monastiri; Masoud, Edizadeh; Rosaria, Nardello; Marzia, Ognibene; Patrizia, De Marco; Martino, Ruggieri; Federico, Zara; Pasquale, Striano; Yavuz, Şahin; Lihadh, Al-Gazali; Marie Therese, Abi Warde; Benedicte, Gerard; Giovanni, Zifarelli; Christian, Beetz; Sara, Fortuna; Miguel, Soler; Enza Maria, Valente; Gaurav, Varshney; Reza, Maroofian; Vincenzo, Salpietro; Henry, Houlden; G Hannah, Michael; Bugiardini, Enrico; Kriouile, Yamna; El Khorassani, Mohamed; Aguennouz, Mhammed; Groppa, Stanislav; Marinova Karashova, Blagovesta; Di Rosa, Gabriella; S Goraya, Jatinder; Sultan, Tipu; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Veggiotti, Pierangelo; Verrotti, Alberto; Savasta, Salvatore; Macaya Ruiz, Alfons; Garavaglia, Barbara; Borgione, Eugenia; Papacostas, Savvas; Compagnoni, Chiara; Piccirilli, Alessandra; Vikelis, Michail; Chelban, Viorica; Kaiyrzhanov, Rauan; Cortese, Andrea; Sullivan, Roisin; Zamba Papanicolaou, Eleni; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Noureen Rana, Nuzhat; Atawneh, Osama; Lim, Shen-Yang; Shaikh, Farooq; Scardamaglia, Annarita; Koutsis, George; Mangano, Salvatore; Scuderi, Carmela; Borgione, Eugenia; Morello, Giovanna; Zollo, Massimo; Heimer, Gali; Striano, Pasquale; Al-Khawaja, Issam; Al-Mutairi, Fuad; S Alkuraya, Fowzan; Rizig, Mie; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Xiromerisiou, Georgia; Spanaki, Cleanthe; Tucci, Arianna; Fiorillo, Chiara; Rissotto, Federico; Munell, Francina; Gagliano, Antonella; Jan, Farida; Chimenz, Roberto; Gitto, Eloisa; Cuppari, Caterina; Romeo, Carmelo; Magrinelli, Francesca; Gupta, Neerja; Kabra, Madhulika; Benrhouma, Hanene; Tazir, Meriem; Zagaroli, Luca; Caloisi, Claudia; Fabiano, Cecilia; Bottone, Gabriella; Farello, Giovanni; Di Fabio, Sandra; Obeid, Makram; Bakhtadze, Sophia; W Saadi, Nebal; S Zaki, Maha; C Triki, Chahnez; Kara, Majdi; Belcastro, Vincenzo; Specchio, Nicola; G Karimiani, Ehsan; M Salih, Ahmed; A Ramenghi, Luca; David, Emanuele; Curró, Riccardo; Laura Iezzi, Maria; Iapadre, Giulia; Nanni, Giuliana; Scorrano, Giovanna; F Fiorile, Maria; Brancati, Francesco; Di Falco, Giovanna; Mandarà, Luana; Barrano, Giuseppe; Elia, Maurizio; Terrone, Gaetano; F Operto, Francesca; Valenzise, Mariella; Della Rocca, Ylenia; Zazzeroni, Francesca; Alesse, Edoardo; Manti, Filippo; Galosi, Serena; Nardecchia, Francesca; Leuzzi, Vincenzo; Pironti, Erica; Amore, Greta; Ceravolo, Giorgia; Zafar, Faisal; Ullah, Ehsan; Afzal, Erum; Javed, Iram; Rahman, Fatima; Mehboob Ahmed, Muhammad; Parisi, Pasquale; Borgia, Paola; D Mangano, Giuseppe; Chiarelli, Francesco - 01a Articolo in rivista

rivista: GENETICS IN MEDICINE (New York: Elsevier Inc. Baltimore MD: Lippincott Williams & Wilkins) pp. - - issn: 1530-0366 - wos: WOS:000879580900020 (1) - scopus: 2-s2.0-85136518302 (4)

11573/1621666 - 2022 - De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Galosi, Serena; H Edani, Ban; Martinelli, Simone; Hansikova, Hana; A Eklund, Erik; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; M Bosch, Daniëlle G; A Ellis, Colin; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; W Barañano, Kristin; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noëlle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; E Verbeek, Nienke; Venkateswaran, Sunita; G Wheeler, Patricia; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; C Sessa, William; J Lefeber, Dirk; Tartaglia, Marco; F Hamdan, Fadi; A Grabińska, Kariona; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: BRAIN (-Oxford: Oxford University Press - Oxford: Clarendon Press - London: Macmillan -London: Butterworths Scientific Publications) pp. - - issn: 1460-2156 - wos: WOS:000767664300001 (16) - scopus: 2-s2.0-85127320320 (17)

11573/1666778 - 2022 - Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy

Galosi, Serena; Pollini, Luca; Nardecchia, Francesca; Cellini, Elena; Guerrini, Renzo; Leuzzi, Vincenzo - 01i Case report

rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. - - issn: 2330-1619 - wos: WOS:000852575400012 (4) - scopus: 2-s2.0-85137748249 (4)

11573/1666784 - 2022 - Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling

Galosi, Serena; Pollini, Luca; Novelli, Maria; Bernardi, Katerina; Di Rocco, Martina; Martinelli, Simone; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. - - issn: 1664-2295 - wos: WOS:000843322400001 (9) - scopus: 2-s2.0-85136516821 (9)

11573/1654011 - 2022 - Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.

Mastrangelo, M; Galosi, S; Cesario, S; Renzi, A; Campea, L; Leuzzi, V. - 01a Articolo in rivista

rivista: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. - - issn: 1664-2295 - wos: WOS:000820288300001 (3) - scopus: 2-s2.0-85133635447 (3)

11573/1643087 - 2022 - PHENOTYIPING AND DIAGNOSTIC TIMING IN NGS-DIAGNOSED GENETIC DEVELOPMENTAL ENCEPHALOPATHIES WITH EPILEPSY AND MOVEMENT DISORDERS

Mastrangelo, Mario; Galosi, Serena; Cesario, Serena; Esposito, Rita Maria; Campea, Lucilla; Leuzzi, Vincenzo - 04d Abstract in atti di convegno

congresso: 14th European Pediatric Neurology Society Congress (Glasgow)

libro: 14th European Paediatric Neurology Society Congress - (978-3-00-072065-9)

11573/1632462 - 2022 - 3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature

Nardecchia, F.; Caciotti, A.; Giovanniello, T.; De Leo, S.; Ferri, L.; Galosi, S.; Santagata, S.; Torres, B.; Bernardini, L.; Carducci, C.; Morrone, A.; Leuzzi, V. - 01i Case report

rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel (Matthaeustrasse 11) : Molecular Diversity Preservation International MDPI) pp. 4422- - issn: 1661-6596 - wos: WOS:000785245200001 (1) - scopus: 2-s2.0-85128272345 (2)

11573/1652994 - 2022 - Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders

Passaretti, Massimiliano; Pollini, Luca; Paparella, Giulia; De Biase, Alessandro; Colella, Donato; Angelini, Luca; Galosi, Serena; Manti, Filippo; Guerra, Andrea; Leuzzi, Vincenzo; Berardelli, Alfredo; Bologna, Matteo - 01a Articolo in rivista

rivista: JOURNAL OF NEURAL TRANSMISSION (Wien : Springer) pp. 1011-1021 - issn: 1435-1463 - wos: WOS:000824240600001 (1) - scopus: 2-s2.0-85134333674 (1)

11573/1666786 - 2022 - Diagnostic and Therapeutic Challenges of Comorbid ASD, ADHD and Psychosis: A Case Report

Scarselli, Veronica; Martucci, Melania; Novelli, Maria; Galosi, Serena; Romani, Maria; Sogos, Carla - 01i Case report

rivista: BEHAVIORAL SCIENCES (Basel : MDPI) pp. - - issn: 2076-328X - wos: WOS:000872178400001 (2) - scopus: 2-s2.0-85140362361 (3)

11573/1614156 - 2021 - Functional neurological disorders in childhood and adolescence: Epidemiology and phenomenology of an emerging diagnostic and clinical challenge

Baglioni, V.; Cesario, S.; Gigliotti, F.; Galosi, S.; Di Maggio, C.; Ferrara, M.; Leuzzi, V.; Di Santo, F. - 01h Abstract in rivista

rivista: EUROPEAN PSYCHIATRY (Editions Scientifique & Medical Elsevier:23 Rue Linois, F 75724 Paris Cedex 15 France:011 33 1 71724646, INTERNET: http://www.elsevier.fr, Fax: 011 33 1 71724664) pp. S247-S248 - issn: 0924-9338 - wos: WOS:000693667600216 (0) - scopus: (0)

11573/1570413 - 2021 - Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Ciolfi, A.; Foroutan, A.; Capuano, A.; Pedace, L.; Travaglini, L.; Pizzi, S.; Andreani, M.; Miele, E.; Invernizzi, F.; Reale, C.; Panteghini, C.; Iascone, M.; Niceta, M.; Gavrilova, R. H.; Schultz-Rogers, L.; Agolini, E.; Bedeschi, M. F.; Prontera, P.; Garibaldi, M.; Galosi, S.; Leuzzi, V.; Soliveri, P.; Olson, R. J.; Zorzi, G. S.; Garavaglia, B. M.; Tartaglia, M.; Sadikovic, B. - 01a Articolo in rivista

rivista: CLINICAL EPIGENETICS (Berlin : Springer) pp. 157- - issn: 1868-7083 - wos: WOS:000684214200001 (23) - scopus: 2-s2.0-85112295053 (20)

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

rivista: 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)

11573/1495248 - 2021 - Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes

Galosi, S.; Martinelli, S.; Pannone, L.; Terrinoni, A.; Venditti, M.; Pizzi, S.; Ciolfi, A.; Chillemi, G.; Gigliotti, F.; Cesario, S.; Tartaglia, M.; Leuzzi, V. - 01f Lettera, Nota

rivista: PARKINSONISM & RELATED DISORDERS ([S.l.] : Elsevier Science) pp. - - issn: 1873-5126 - wos: WOS:000632026700002 (1) - scopus: 2-s2.0-85099868819 (1)

11573/1549751 - 2021 - Dissecting pain processing in adolescents with Non-Suicidal Self Injury: could suicide risk lurk among the electrodes?

Leone, Caterina; Galosi, Serena; Mollica, Cristina; Fortunato, Mattia; Possidente, Chiara; Milone, Valeria; Misuraca, Sofia; Berillo, Luana; Truini, Andrea; Cruccu, Giorgio; Ferrara, Mauro; Terrinoni, Arianna - 01a Articolo in rivista

rivista: EUROPEAN JOURNAL OF PAIN (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. - - issn: 1090-3801 - wos: WOS:000656250000001 (8) - scopus: 2-s2.0-85107006971 (8)

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

rivista: 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)

11573/1517175 - 2020 - KMT2B-related disorders: Expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Demailly, D; Cif, L; Lin, J; Barwick, K; Steel, D; Sa, M; Dorison, N; Doummar, D; Francois, Ll; Coubes, P; Gorman, K; Kurian, M; Galosi, S - 01a Articolo in rivista

rivista: BRAIN (-Oxford: Oxford University Press -Oxford: Clarendon Press -London: Macmillan -London: Butterworths Scientific Publications, 1878-) pp. S44-S44 - issn: 0006-8950 - wos: WOS:000567989800109 (0) - scopus: 2-s2.0-85097570939 (68)

11573/1386555 - 2020 - Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features

Galosi, S.; Nardecchia, F.; Leuzzi, V. - 01a Articolo in rivista

rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 154-166 - issn: 2330-1619 - wos: WOS:000510776400001 (11) - scopus: 2-s2.0-85079330780 (14)

11573/1450203 - 2020 - Parkinsonism in children: Clinical classification and etiological spectrum

Leuzzi, Vincenzo; Nardecchia, Francesca; Pons, Roser; Galosi, Serena - 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. - - issn: 1353-8020 - wos: WOS:000608362300028 (14) - scopus: 2-s2.0-85094601188 (16)

11573/1370708 - 2020 - Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism

Martinelli, Simone; Cordeddu, Viviana; Galosi, Serena; Lanzo, Ambra; Palma, Eleonora; Pannone, Luca; Ciolfi, Andrea; Di Nottia, Michela; Rizza, Teresa; Bocchinfuso, Gianfranco; Traversa, Alice; Caputo, Viviana; Farrotti, Andrea; Carducci, Claudia; Bernardini, Laura; Cogo, Susanna; Paglione, Maria; Venditti, Martina; Bentivoglio, Annarita; Ng, Joanne; Kurian, Manju A; Civiero, Laura; Greggio, Elisa; Stella, Lorenzo; Trettel, Flavia; Sciaccaluga, Miriam; Roseti, Cristina; Carrozzo, Rosalba; Fucile, Sergio; Limatola, Cristina; Di Schiavi, Elia; Tartaglia, Marco; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: PARKINSONISM & RELATED DISORDERS ([S.l.] : Elsevier Science) pp. 75-79 - issn: 1873-5126 - wos: WOS:000527333100013 (12) - scopus: 2-s2.0-85080039205 (16)

11573/1471056 - 2020 - Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

Marti-Sanchez, L.; Baide-Mairena, H.; Marce-Grau, A.; Pons, R.; Skouma, A.; Lopez-Laso, E.; Sigatullina, M.; Rizzo, C.; Semeraro, M.; Martinelli, D.; Carrozzo, R.; Dionisi-Vici, C.; Gonzalez-Gutierrez-Solana, L.; Correa-Vela, M.; Ortigoza-Escobar, J. D.; Sanchez-Montanez, A.; Vazquez, E.; Delgado, I.; Aguilera-Albesa, S.; Yoldi, M. E.; Ribes, A.; Tort, F.; Pollini, L.; Galosi, S.; Leuzzi, V.; Tolve, M.; Perez-Gay, L.; Aldamiz-Echevarria, L.; Del Toro, M.; Arranz, A.; Roelens, F.; Urreizti, R.; Artuch, R.; Macaya, A.; Perez-Duenas, B. - 01a Articolo in rivista

rivista: 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. - - issn: 0141-8955 - wos: WOS:000563083900001 (27) - scopus: 2-s2.0-85089444872 (22)

11573/1517215 - 2020 - Failure to thrive - An overlooked manifestation of KMT2B-related dystonia: A case presentation

Ng, A.; Ng, A.; Galosi, S.; Salz, L.; Wong, T.; Schwager, C.; Amudhavalli, S.; Gelineau-Morel, R.; Chowdhury, S.; Friedman, J.; Friedman, J.; Friedman, J. - 01i Case report

rivista: BMC NEUROLOGY ([London]: BioMed Central.) pp. 246- - issn: 1471-2377 - wos: WOS:000546750200001 (7) - scopus: 2-s2.0-85086685389 (8)

11573/1386553 - 2020 - Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male

Pollini, L.; Tolve, M.; Nardecchia, F.; Galosi, S.; Carducci, C.; Di Carlo, E.; Carducci, C.; Leuzzi, V. - 01a Articolo in rivista

rivista: MOLECULAR GENETICS AND METABOLISM REPORTS (Amsterdam : Elsevier) pp. 100560- - issn: 2214-4269 - wos: WOS:000514810400017 (2) - scopus: 2-s2.0-85077397074 (2)

11573/1434595 - 2020 - KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes

Pollini, Luca; Galosi, Serena; Tolve, Manuela; Caputi, Caterina; Carducci, Carla; Angeloni, Antonio; Leuzzi, Vincenzo - 01g Articolo di rassegna (Review)

rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. 5802- - issn: 1422-0067 - wos: WOS:000565055500001 (17) - scopus: 2-s2.0-85089568443 (17)

11573/1261099 - 2019 - Pnkp deficiency mimicking a benign hereditary chorea. the misleading presentation of a neurodegenerative disorder

Caputi, C; Tolve, M; Galosi, S; Inghilleri, M; Carducci, C; Angeloni, A; Leuzzi, V - 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. 1-4 - issn: 1353-8020 - wos: WOS:000487567800057 (5) - scopus: 2-s2.0-85068185809 (6)

11573/1497256 - 2019 - Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

Carecchio, M.; Invernizzi, F.; Gonzalez-Latapi, P.; Panteghini, C.; Zorzi, G.; Romito, L.; Leuzzi, V.; Galosi, S.; Reale, C.; Zibordi, F.; Joseph, A. P.; Topf, M.; Piano, C.; Bentivoglio, A. R.; Girotti, F.; Morana, P.; Morana, B.; Kurian, M. A.; Garavaglia, B.; Mencacci, N. E.; Lubbe, S. J.; Nardocci, N. - 01a Articolo in rivista

rivista: 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. 1516-1527 - issn: 0885-3185 - wos: WOS:000491128100018 (38) - scopus: 2-s2.0-85067465476 (39)

11573/1517200 - 2019 - Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review

Galosi, S.; Barca, E.; Carrozzo, R.; Schirinzi, T.; Quinzii, C. M.; Lieto, M.; Vasco, G.; Zanni, G.; Di Nottia, M.; Galatolo, D.; Filla, A.; Bertini, E.; Santorelli, F. M.; Leuzzi, V.; Haas, R.; Hirano, M.; Friedman, J. - 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. 8-16 - issn: 1353-8020 - wos: WOS:000503086600003 (18) - scopus: 2-s2.0-85072776482 (27)

11573/1386557 - 2019 - Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant

Pollini, L.; Galosi, S.; Nardecchia, F.; Musacchia, F.; Castello, R.; Nigro, V.; Leuzzi, V. - 01a Articolo in rivista

rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 118-119 - issn: 2330-1619 - wos: WOS:000498133600001 (5) - scopus: 2-s2.0-85075480182 (6)

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)

11573/1457969 - 2019 - DSM-5 personality domains as correlates of non-suicidal self-injury severity in an Italian sample of adolescent inpatients with self-destructive behaviour

Somma, A.; Fossati, A.; Ferrara, M.; Fantini, F.; Galosi, S.; Krueger, R. F.; Markon, K. E.; Terrinoni, A. - 01a Articolo in rivista

rivista: PERSONALITY AND MENTAL HEALTH (West Sussex, UK : John Wiley & Sons, 2007-) pp. 205-214 - issn: 1932-8621 - wos: WOS:000478293500001 (15) - scopus: 2-s2.0-85070292013 (17)

11573/1227256 - 2018 - Paroxysmal motor disorders. expanding phenotypes lead to coalescing genotypes

Zima, Laura; Ceulemans, Sophia; Reiner, Gail; Galosi, Serena; Chen, Dillon; Sahagian, Michelle; Haas, Richard H.; Hyland, Keith; Friedman, Jennifer - 01a Articolo in rivista

rivista: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY () pp. 996-1010 - issn: 2328-9503 - wos: WOS:000441741800011 (10) - scopus: 2-s2.0-85050593297 (11)

11573/954767 - 2017 - GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome

Danti, Federica Rachele; Galosi, Serena; Romani, M; Montomoli, M; Carss, Kj; Raymond, Fl; Parrini, E; Bianchini, C; Mcshane, T; Dale, Rc; Mohammad, Ss; Shah, U; Mahant, N; Ng, J; Mctague, A; Samanta, R; Vadlamani, G; Valente, Em; Leuzzi, Vincenzo; Kurian, Ma; Guerrini, R. 1. - 01a Articolo in rivista

rivista: NEUROLOGY. GENETICS (Philadelphia, PA : Wolters Kluwer/Lippincott Williams & Wilkins, 2015-) pp. - - issn: 2376-7839 - wos: WOS:000425021200008 (79) - scopus: 2-s2.0-85047390632 (84)

11573/870469 - 2016 - Theory of mind in non-suicidal self-injury (NSSI) adolescents

Laghi, Fiorenzo; Terrinoni, Arianna; Cerutti, Rita; Fantini, Fiorella; Galosi, Serena; Ferrara, Mauro; Bosco, F. M. - 01a Articolo in rivista

rivista: CONSCIOUSNESS AND COGNITION (Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445) pp. 38-47 - issn: 1053-8100 - wos: WOS:000379795100004 (18) - scopus: 2-s2.0-84969871901 (21)

11573/935445 - 2016 - Emergency and urgency in pediatric subjects with neuropsychiatric disorders: a pilot study in a tertiary center

Panunzi, Sara; De Liso, Paola; Guerriero, Francesca; Trinari, Elisabetta; Di Maggio, Chiara; Galosi, Serena; Mitola, Chiara; Ricci, Rosella; Abbracciavento, Giuseppe; Calderoni, Dario; Cardona, Francesco Carmelo Giovanni; Ferrara, Mauro; Guidetti, Vincenzo - 04d Abstract in atti di convegno

congresso: SINPIA - XXVII Congresso Nazionale (Alghero)

libro: Libro degli abstract SINPIA - XXVII Congresso Nazionale 7 -‐ 9 ottobre 2016 -‐ Alghero - ()

11573/493782 - 2013 - Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency

Mastrangelo, Mario; Caputi, Caterina; Galosi, Serena; Giannini, Maria Teresa; Leuzzi, Vincenzo - 01a Articolo in rivista

rivista: 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. 556-557 - issn: 0885-3185 - wos: WOS:000317366100033 (13) - scopus: 2-s2.0-84876150648 (20)

11573/481880 - 2012 - EARLY ONSET PARKINSONISM: A NEW CLINICAL AND BIOCHEMICAL PHENOTYPE

Galosi, Serena; Celato, Andrea; Mastrangelo, Mario; Carducci, Claudia; Carducci, Carla; Enrico, Bertini; Leuzzi, Vincenzo - 04d Abstract in atti di convegno

rivista: 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. S140-S140 - issn: 0141-8955 - wos: WOS:000307513100488 (0) - scopus: (0)

11573/481882 - 2012 - GLUT1 DEFICIENCY: A MILD PHENOTYPE IN A 4 YEARS OLD FEMALE WITH EARLY ONSET ABSENCES AND ATAXIA

Mastrangelo, Mario; Celato, Andrea; Galosi, Serena; Leuzzi, Vincenzo - 04d Abstract in atti di convegno

rivista: 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. S169-S169 - issn: 0141-8955 - wos: WOS:000307513100594 (0) - scopus: (0)

11573/481881 - 2012 - TRANSDERMAL ROTIGOTINE AS A COMEDICATION IN THE TREATMENT OF CONGENITAL DISORDERS OF BIOGENIC AMINE

Mastrangelo, Mario; Galosi, Serena; Celato, Andrea; D'agnano, Daniela; Giannini, Maria Teresa; S., Bertino; Leuzzi, Vincenzo - 04d Abstract in atti di convegno

rivista: 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. S140-S140 - issn: 0141-8955 - wos: WOS:000307513100491 (0) - scopus: (0)

11573/411538 - 2011 - LONG TERM OUTCOME IN TYROSINE HYDROXYLASE DEFICIENCY- TYPE B: A FIFTEEN YEARS FOLLOW UP IN A MALE PATIENT

Mastrangelo, Mario; Celato, A; Guerriero, F; Galosi, S; Libernini, L; Carducci, Claudia; Carducci, Carla; Giannini, Mt; Leuzzi, Vincenzo - 04c Atto di convegno in rivista

rivista: 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. S130- - issn: 0141-8955 - wos: WOS:000309837800190 (0) - scopus: (0)

congresso: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (GINEVRA)