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Neurogenetics|April 24, 2019
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian familyShelisa Tey, Nortina Shahrizaila, Alexander P Drew, et al.Journal of the Peripheral Nervous System : JPNS|October 14, 2025
Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B LocusBianca R Grosz, Melina Ellis, Shuchi Trivedi, et al.Aging|March 25, 2020
Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph diseaseFulya Akçimen, Sandra Martins, Calwing Liao, et al.Metallomics : Integrated Biometal Science|June 14, 2016
Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)Gonzalo Perez-Siles, Adrienne Grant, Melina Ellis, et al.Brain : a Journal of Neurology|May 4, 2024
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementiaKyrah M Thumbadoo, Birger V Dieriks, Helen C Murray, et al.American Journal of Human Genetics|April 24, 2004
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)Ying-Zhang Chen, Craig L Bennett, Huy M Huynh, et al.Nature Neuroscience|May 28, 2013
Exome sequencing to identify de novo mutations in sporadic ALS triosAlessandra Chesi, Brett T Staahl, Ana Jovičić, et al.Neuron|April 11, 2017
Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor DevelopmentSwapna Thomas-Jinu, Patricia M Gordon, Triona Fielding, 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.Human Molecular Genetics|April 27, 2017
Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotypeAlison L Hogan, Emily K Don, Stephanie L Rayner, et al.Pageof 10