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Neurobiology of Aging|September 8, 2015
The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patientsChun Hao Wong, Simon Topp, Athina Soragia Gkazi, et al.
Neurobiology of Aging|July 17, 2021
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decayMarc Gotkine, Martina de Majo, Chun Hao Wong, et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|July 12, 2008
A common haplotype within the PON1 promoter region is associated with sporadic ALSJohn E Landers, Lijia Shi, Ting-Jan Cho, et al.
Neurobiology of Aging|December 16, 2014
Novel mutations support a role for Profilin 1 in the pathogenesis of ALSBradley N Smith, Caroline Vance, Emma L Scotter, et al.
Science (New York, N.Y.)|March 1, 2008
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosisJemeen Sreedharan, Ian P Blair, Vineeta B Tripathi, et al.
Neurobiology of Aging|August 3, 2016
C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissueEmma L Scotter, Leon Smyth, J Ames W T Bailey, et al.
Cell Reports|October 2, 2012
FUS-SMN protein interactions link the motor neuron diseases ALS and SMATomohiro Yamazaki, Shi Chen, Yong Yu, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|September 2, 2016
Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosisBenjamin Gaastra, Aleksey Shatunov, Sara Pulit, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 10, 2020
ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of functionJosephine J Wu, Ashley Cai, Jessie E Greenslade, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 6, 2013
ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43Eveline S Arnold, Shuo-Chien Ling, Stephanie C Huelga, et al.
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