关注
Serena Galosi
Serena Galosi
在 uniroma1.it 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
1072017
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
772020
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
732019
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
672019
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
362022
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
342019
Parkinsonism in children: Clinical classification and etiological spectrum
V Leuzzi, F Nardecchia, R Pons, S Galosi
Parkinsonism & related disorders 82, 150-157, 2021
322021
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
312021
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
262019
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
252021
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
242016
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
232022
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
222020
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
212022
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
202023
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
202021
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
192020
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
182013
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
152020
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
122018
系统目前无法执行此操作,请稍后再试。
文章 1–20