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Cerebellum (London, England)|September 17, 2024
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case ReportMartina De Riggi, Agnese De Giorgi, Luca Pollini, et al.Journal of Neurology|July 7, 2023
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4AAnnalaura Torella, Ivana Ricca, Giulio Piluso, et al.Parkinsonism & Related Disorders|October 18, 2019
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature reviewSerena Galosi, Emanuele Barca, Rosalba Carrozzo, et al.Neurobiology of Disease|May 19, 2024
Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish modelMaria Marchese, Sara Bernardi, Asahi Ogi, et al.Journal of Neurology|July 22, 2021
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutationsGiovanna De Michele, Daniele Galatolo, Serena Galosi, et al.Annals of Clinical and Translational Neurology|March 28, 2020
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52Angelica D'Amore, Alessandra Tessa, Valentina Naef, et al.Genes|March 3, 2021
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle InvolvementAlessandro Vaisfeld, Giorgia Bruno, Martina Petracca, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 28, 2025
HPDL Biallelic Variants in Cerebral Palsy and Childhood-Onset Hereditary Spastic Paraplegia: Human and Zebrafish InsightsSerena Mero, Sara Satolli, Daniele Galatolo, et al.International Journal of Molecular Sciences|December 11, 2022
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation SequencingGemma Marinella, Guja Astrea, Bianca Buchignani, et al.International Journal of Molecular Sciences|August 27, 2021
NGS in Hereditary Ataxia: When Rare Becomes FrequentDaniele Galatolo, Giovanna De Michele, Gabriella Silvestri, et al.Pageof 4