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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.
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|December 3, 2013
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxicYoun-Bok Lee, Han-Jou Chen, João N Peres, et al.
Glycobiology|March 10, 2011
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunctionBu'hussain Hayee, Aristotelis Antonopoulos, Emma J Murphy, 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.
Brain Communications|October 28, 2021
SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressedAlfredo Iacoangeli, Isabella Fogh, Sashika Selvackadunco, et al.
Neurobiology of Aging|October 16, 2012
H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosisWouter van Rheenen, Frank P Diekstra, Perry T C van Doormaal, et al.
Neurobiology of Aging|July 24, 2018
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase functionMartina de Majo, Simon D Topp, Bradley N Smith, et al.
Nature Neuroscience|November 27, 2019
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
Nature Neuroscience|December 21, 2019
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
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