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Human Molecular Genetics|July 28, 2026
Neurodevelopmental alterations are key drivers of SPG56Daniele Galatolo, Devid Damiani, Valentina Naef, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 29, 2020
Spinocerebellar ataxia type 48: last but not leastGiovanna De Michele, Daniele Galatolo, Melissa Barghigiani, et al.Journal of Neurology|June 5, 2016
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findingsAlexandros A Polymeris, Alessandra Tessa, Katherine Anagnostopoulou, et al.Neuroradiology|April 15, 2020
The "crab sign": an imaging feature of spinocerebellar ataxia type 48Sirio Cocozza, Giuseppe Pontillo, Giovanna De Michele, et al.Cell Death & Disease|February 20, 2026
Loss of function variants in HPDL impair human cortical development via alterations of mitochondrial functionMatteo Baggiani, Maria Andrea Desbats, Valentina Naef, et al.Parkinsonism & Related Disorders|May 26, 2019
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian familiesGiovanna De Michele, Maria Lieto, Daniele Galatolo, et al.Human Mutation|April 26, 2020
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndromeDaniele Galatolo, Molly E Kuo, Patrick Mullen, et al.European Journal of Neurology|April 14, 2021
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21Vittorio Riso, Daniele Galatolo, Melissa Barghigiani, et al.Neurogenetics|May 2, 2023
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practiceDaniele Galatolo, Rosanna Trovato, Arianna Scarlatti, et al.Journal of Neurology|March 11, 2021
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblastsSerena Mero, Leonardo Salviati, Vincenzo Leuzzi, et al.Pageof 4