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Brain : a Journal of Neurology|December 1, 2010
A mutation in the RNF170 gene causes autosomal dominant sensory ataxiaPaul N Valdmanis, Nicolas Dupré, Mathieu Lachance, et al.Brain Communications|September 14, 2023
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patientsCatherine Ashton, Elisabetta Indelicato, David Pellerin, et al.American Journal of Human Genetics|November 13, 2010
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosaAnjali M Rajadhyaksha, Olivier Elemento, Erik G Puffenberger, et al.Journal of Medical Genetics|January 29, 2013
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadismHussein Daoud, Martine Tétreault, William Gibson, et al.Brain Communications|June 9, 2025
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxiaWai Yan Yau, Roisin Sullivan, Emer O'Connor, et al.Molecular Brain|June 22, 2019
The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesisKarine Choquet, Maxime Pinard, Sharon Yang, et al.Neurobiology of Disease|March 10, 2005
Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in micePatrick Dion, Vijayalakshmi Shanmugam, Claudia Gaspar, et al.Journal of Neuromuscular Diseases|February 20, 2025
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophyIan C Smith, Marcos L Sampaio, Gerd Melkus, et al.Annals of Neurology|April 13, 2007
Characterization of a novel SPG3A deletion in a French-Canadian familyInge A Meijer, Patrick Dion, Sandra Laurent, et al.European Journal of Human Genetics : EJHG|December 3, 2015
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia casesKarine Choquet, Martine Tétreault, Sharon Yang, et al.Pageof 19