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Journal of Neurology|September 20, 2025
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohortPablo Iruzubieta, David Pellerin, Catherine Ashton, et al.Neurology|October 24, 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutationsNicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, et al.Neurology. Genetics|April 20, 2023
Novel Homozygous Variant in <i>COQ7</i> in Siblings With Hereditary Motor NeuropathyIan C Smith, Chantal A Pileggi, Ying Wang, et al.American Journal of Human Genetics|August 9, 2011
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2Jean-Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, et al.Brain : a Journal of Neurology|November 7, 2016
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportionNasim Vasli, Elizabeth Harris, Jason Karamchandani, et al.AJNR. American Journal of Neuroradiology|December 10, 2025
Towards a neuroimaging consensus for the workup of adult genetic leukoencephalopathies on behalf of the White Matter Rounds Network: State of PracticeAlexander D Wong, Laura Airas, Enrique Alvarez, et al.Journal of Neurology|March 2, 2025
Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patientsDavid Genís, Berta Alemany, David Pellerin, et al.Ebiomedicine|April 24, 2025
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohortDanique Beijer, David Mengel, Demet Önder, et al.European Journal of Neurology|August 14, 2023
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxiaPablo Iruzubieta, David Pellerin, Alberto Bergareche, et al.Movement Disorders : Official Journal of the Movement Disorder Society|August 20, 2025
Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and AtaxiaCécile Di Folco, Charlotte Dubec-Fleury, Andreas Traschütz, et al.Pageof 19