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Nature Communications|January 26, 2018
C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca<sup>2+</sup>-permeable AMPA receptor-mediated excitotoxicityBhuvaneish T Selvaraj, Matthew R Livesey, Chen Zhao, et al.
Human Molecular Genetics|November 16, 2013
No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosisAn Goris, Jessica van Setten, Frank Diekstra, et al.
Human Molecular Genetics|November 11, 2008
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degenerationClaire L Simpson, Robin Lemmens, Katarzyna Miskiewicz, 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.
Frontiers in Cellular Neuroscience|March 20, 2023
Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survivalBrett N Adey, Johnathan Cooper-Knock, Ahmad Al Khleifat, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 13, 2025
Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implicationsAlfredo Iacoangeli, Allison A Dilliott, Ahmad Al Khleifat, 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.
Brain : a Journal of Neurology|March 19, 2020
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosisCarol Dobson-Stone, Marianne Hallupp, Hamideh Shahheydari, et al.
Annals of Neurology|June 17, 2014
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysisFrank P Diekstra, Vivianna M Van Deerlin, John C van Swieten, et al.
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