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Disease Models & Mechanisms|May 28, 2009
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathyFrancesca Achilli, Virginie Bros-Facer, Hazel P Williams, et al.American Journal of Human Genetics|October 6, 2010
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathyHeather M McLaughlin, Reiko Sakaguchi, Cuiping Liu, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|September 1, 2016
A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosisAlexander J McGeachan, Esther V Hobson, Ammar Al-Chalabi, et al.The Lancet. Neurology|March 31, 2018
Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction modelHenk-Jan Westeneng, Thomas P A Debray, Anne E Visser, et al.Nature Genetics|May 4, 2004
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathyOleg V Evgrafov, Irena Mersiyanova, Joy Irobi, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|May 8, 2013
Management of sialorrhoea in motor neuron disease: a survey of current UK practiceEsther V Hobson, Alexander McGeachan, Ammar Al-Chalabi, et al.Nature Communications|April 9, 2025
Mutant huntingtin induces neuronal apoptosis via derepressing the non-canonical poly(A) polymerase PAPD5Zhefan Stephen Chen, Shaohong Isaac Peng, Lok I Leong, et al.Brain : a Journal of Neurology|September 14, 2013
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a modelAndrea H Németh, Alexandra C Kwasniewska, Stefano Lise, et al.Science Translational Medicine|September 14, 2022
Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteinsJunli Gao, Quinlan T Mewborne, Amandeep Girdhar, et al.Nature Neuroscience|November 25, 2025
Large-scale drug screening in iPSC-derived motor neurons from sporadic ALS patients identifies a potential combinatorial therapyChristopher R Bye, Elizabeth Qian, Katherine Lim, et al.Pageof 23