Showing results (111-120 of 182) with videos related to
Sort By:
Pageof 19
Journal of Neurology, Neurosurgery, and Psychiatry|December 6, 2014
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansionMasato Obayashi, Giovanni Stevanin, Matthis Synofzik, et al.Cell Reports|June 28, 2018
Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to NeurodegenerationMaxime Boutry, Julien Branchu, Céline Lustremant, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2020
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairmentThomas Roux, Mathieu Barbier, Mélanie Papin, et al.Brain : a Journal of Neurology|March 27, 2016
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesionsPaola S Denora, Katrien Smets, Federica Zolfanelli, et al.Acta Neuropathologica|May 27, 2014
The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in miceSandro Alves, Florence Cormier-Dequaire, Martina Marinello, et al.Plos Biology|July 9, 2010
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegiaMikołaj Słabicki, Mirko Theis, Dragomir B Krastev, et al.Brain : a Journal of Neurology|January 4, 2022
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegiaJean-Loup Méreaux, Guillaume Banneau, Mélanie Papin, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2022
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4Livia Parodi, Mathieu Barbier, Maxime Jacoupy, et al.Cell Reports|June 21, 2016
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and HumansYubin Wang, Joshua Hersheson, Dulce Lopez, et al.Neuro-Degenerative Diseases|May 31, 2017
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African FamiliesMonia B Hammer, Jinhui Ding, Fanny Mochel, et al.Pageof 19