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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.Annals of Neurology|January 3, 2021
The Effect of SMN Gene Dosage on ALS Risk and Disease SeverityMatthieu Moisse, Ramona A J Zwamborn, Joke van Vugt, et al.Neurobiology of Aging|October 22, 2018
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohortGijs H P Tazelaar, Annelot M Dekker, Joke J F A van Vugt, et al.Brain : a Journal of Neurology|April 12, 2023
Genetic variability in sporadic amyotrophic lateral sclerosisSien Hilde Van Daele, Matthieu Moisse, Joke J F A van Vugt, et al.Human Molecular Genetics|August 6, 2010
A large genome scan for rare CNVs in amyotrophic lateral sclerosisHylke M Blauw, Ammar Al-Chalabi, Peter M Andersen, et al.Journal of Medical Genetics|April 8, 2014
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratoriesChizuru Akimoto, Alexander E Volk, Marka van Blitterswijk, et al.Biorxiv : the Preprint Server for Biology|December 9, 2024
Sex-specific DNA methylation differences in Amyotrophic lateral sclerosisOlivia A Grant, Alfredo Iacoangeli, Ramona A J Zwamborn, et al.Neurobiology of Aging|December 27, 2016
ATXN2 trinucleotide repeat length correlates with risk of ALSWilliam Sproviero, Aleksey Shatunov, Daniel Stahl, et al.Nature Genetics|September 15, 2015
Population genetic differentiation of height and body mass index across EuropeMatthew R Robinson, Gibran Hemani, Carolina Medina-Gomez, et al.JAMA Neurology|June 1, 2016
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral SclerosisIsabella Fogh, Kuang Lin, Cinzia Tiloca, et al.Pageof 8