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Science Translational Medicine|May 5, 2017
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosisBradley N Smith, Simon D Topp, Claudia Fallini, et al.
American Journal of Medical Genetics. Part A|October 8, 2020
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrumYanick J Crow, Heather Marshall, Gillian I Rice, et al.
Human Molecular Genetics|February 6, 2009
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosisAdriano Chiò, Jennifer C Schymick, Gabriella Restagno, et al.
Neuron|November 7, 2014
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALSBradley N Smith, Nicola Ticozzi, Claudia Fallini, et al.
Nature Genetics|July 26, 2016
NEK1 variants confer susceptibility to amyotrophic lateral sclerosisKevin P Kenna, Perry T C van Doormaal, Annelot M Dekker, et al.
Neuron|March 24, 2018
Genome-wide Analyses Identify KIF5A as a Novel ALS GeneAude Nicolas, Kevin P Kenna, Alan E Renton, et al.
JAMA Neurology|August 30, 2021
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral SclerosisJanel O Johnson, Ruth Chia, Danny E Miller, et al.
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