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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.
Genome Biology|September 23, 2016
Age-related accrual of methylomic variability is linked to fundamental ageing mechanismsRoderick C Slieker, Maarten van Iterson, René Luijk, et al.
Brain Communications|September 21, 2020
ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalizationGijs H P Tazelaar, Steven Boeynaems, Mathias De Decker, 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 Neuroscience|April 1, 2022
Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALSChen Eitan, Aviad Siany, Elad Barkan, et al.
Science Translational Medicine|December 20, 2019
Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiologyIrit Reichenstein, Chen Eitan, Sandra Diaz-Garcia, et al.
Nature Communications|November 13, 2022
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease durationSarah Opie-Martin, Alfredo Iacoangeli, Simon D Topp, 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.
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