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Brain : a Journal of Neurology|February 24, 2006
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3Caroline Vance, Ammar Al-Chalabi, Deborah Ruddy, et al.
Acta Neuropathologica Communications|February 27, 2016
Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTDMichael Niblock, Bradley N Smith, Youn-Bok Lee, et al.
Acta Neuropathologica|September 11, 2012
Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashionJacqueline C Mitchell, Philip McGoldrick, Caroline Vance, et al.
Neurobiology of Aging|October 24, 2018
Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementiaSoragia Athina Gkazi, Claire Troakes, Simon Topp, et al.
Annals of Neurology|July 3, 2003
Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosisAmmar Al-Chalabi, Margaret D Scheffler, Bradley N Smith, et al.
American Journal of Human Genetics|July 4, 2003
Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16qDeborah M Ruddy, Matthew J Parton, Ammar Al-Chalabi, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 2, 2018
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment biasPuja R Mehta, Ashley R Jones, Sarah Opie-Martin, et al.
Human Molecular Genetics|October 4, 2017
C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicityYoun-Bok Lee, Pranetha Baskaran, Jorge Gomez-Deza, et al.
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.
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