GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome FR Danti, S Galosi, M Romani, M Montomoli, KJ Carss, FL Raymond, ... Neurology: Genetics 3 (2), e143, 2017 | 107 | 2017 |
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation L Cif, D Demailly, JP Lin, KE Barwick, M Sa, L Abela, S Malhotra, ... Brain 143 (11), 3242-3261, 2020 | 77 | 2020 |
Phenomenology and clinical course of movement disorder in GNAO1 variants: results from an analytical review T Schirinzi, G Garone, L Travaglini, G Vasco, S Galosi, L Rios, ... Parkinsonism & Related Disorders 61, 19-25, 2019 | 73 | 2019 |
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study M Carecchio, F Invernizzi, P Gonzàlez‐Latapi, C Panteghini, G Zorzi, ... Movement Disorders 34 (10), 1516-1527, 2019 | 67 | 2019 |
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling … M Di Rocco, S Galosi, E Lanza, F Tosato, D Caprini, V Folli, J Friedman, ... Human Molecular Genetics 31 (6), 929-941, 2022 | 36 | 2022 |
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review S Galosi, E Barca, R Carrozzo, T Schirinzi, CM Quinzii, M Lieto, G Vasco, ... Parkinsonism & Related Disorders 68, 8-16, 2019 | 34 | 2019 |
Parkinsonism in children: Clinical classification and etiological spectrum V Leuzzi, F Nardecchia, R Pons, S Galosi Parkinsonism & related disorders 82, 150-157, 2021 | 32 | 2021 |
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene L Marti‐Sanchez, H Baide‐Mairena, A Marcé‐Grau, R Pons, A Skouma, ... Journal of Inherited Metabolic Disease 44 (2), 401-414, 2021 | 31 | 2021 |
DSM‐5 personality domains as correlates of non‐suicidal self‐injury severity in an Italian sample of adolescent inpatients with self‐destructive behaviour A Somma, A Fossati, M Ferrara, F Fantini, S Galosi, RF Krueger, ... Personality and mental health 13 (4), 205-214, 2019 | 26 | 2019 |
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile A Ciolfi, A Foroutan, A Capuano, L Pedace, L Travaglini, S Pizzi, ... Clinical epigenetics 13 (1), 157, 2021 | 25 | 2021 |
Theory of mind in non-suicidal self-injury (NSSI) adolescents F Laghi, A Terrinoni, R Cerutti, F Fantini, S Galosi, M Ferrara, FM Bosco Consciousness and cognition 43, 38-47, 2016 | 24 | 2016 |
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy B De Maria, S Balestrini, D Mei, F Melani, S Pellacani, T Pisano, A Rosati, ... American journal of medical genetics Part A 188 (2), 522-533, 2022 | 23 | 2022 |
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes L Pollini, S Galosi, M Tolve, C Caputi, C Carducci, A Angeloni, V Leuzzi International journal of molecular sciences 21 (16), 5802, 2020 | 22 | 2020 |
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus S Galosi, BH Edani, S Martinelli, H Hansikova, EA Eklund, C Caputi, ... Brain 145 (1), 208-223, 2022 | 21 | 2022 |
GNAO1-related movement disorder: an update on phenomenology, clinical course, and response to treatments M Novelli, S Galosi, G Zorzi, S Martinelli, A Capuano, F Nardecchia, ... Parkinsonism & Related Disorders 111, 105405, 2023 | 20 | 2023 |
NGS in hereditary ataxia: when rare becomes frequent D Galatolo, G De Michele, G Silvestri, V Leuzzi, C Casali, O Musumeci, ... International Journal of Molecular Sciences 22 (16), 8490, 2021 | 20 | 2021 |
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism S Martinelli, V Cordeddu, S Galosi, A Lanzo, E Palma, L Pannone, A Ciolfi, ... Parkinsonism & Related Disorders 72, 75-79, 2020 | 19 | 2020 |
Transdermal rotigotine in the treatment of aromatic L‐amino acid decarboxylase deficiency M Mastrangelo, C Caputi, S Galosi, MT Giannini, V Leuzzi Movement Disorders 28 (4), 556-557, 2013 | 18 | 2013 |
Treatable inherited movement disorders in children: spotlight on clinical and biochemical features S Galosi, F Nardecchia, V Leuzzi Movement Disorders Clinical Practice 7 (2), 154-166, 2020 | 15 | 2020 |
Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes L Zima, S Ceulemans, G Reiner, S Galosi, D Chen, M Sahagian, RH Haas, ... Annals of Clinical and Translational Neurology 5 (8), 996-1010, 2018 | 12 | 2018 |