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Plos Genetics|August 11, 2011
Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLARudolf S N Fehrmann, Ritsert C Jansen, Jan H Veldink, 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.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|May 6, 2025
Natural history of the revised ALS functional rating scale and its association with survival: the PRECISION-ALS Extant StudyRuben P A van Eijk, Daphne N Weemering, Sarah Opie-Martin, et al.Nature Communications|September 16, 2018
Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivationRené Luijk, Haoyu Wu, Cavin K Ward-Caviness, et al.Plos One|April 18, 2012
Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALSFrank P Diekstra, Christiaan G J Saris, Wouter van Rheenen, et al.Human Mutation|July 18, 2017
The role of de novo mutations in the development of amyotrophic lateral sclerosisPerry T C van Doormaal, Nicola Ticozzi, Jochen H Weishaupt, 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.European Journal of Human Genetics : EJHG|February 16, 2025
An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2Koen C Demaegd, Aoife Kernan, Johnathan Cooper-Knock, et al.Nature Communications|January 20, 2023
Integrative genetic analysis illuminates ALS heritability and identifies risk genesSalim Megat, Natalia Mora, Jason Sanogo, et al.Pageof 28