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Nature|March 5, 2013
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALSHong Joo Kim, Nam Chul Kim, Yong-Dong Wang, et al.Neuron|April 27, 2016
Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAsJie Jiang, Qiang Zhu, Tania F Gendron, et al.The Lancet. Neurology|August 31, 2010
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association studyAleksey Shatunov, Kin Mok, Stephen Newhouse, 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 Communications|September 21, 2020
<i>ATXN1</i> 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.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.European Journal of Human Genetics : EJHG|June 14, 2012
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founderBradley N Smith, Stephen Newhouse, Aleksey Shatunov, et al.Neurobiology of Aging|December 27, 2016
ATXN2 trinucleotide repeat length correlates with risk of ALSWilliam Sproviero, Aleksey Shatunov, Daniel Stahl, et al.Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|May 5, 2015
The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's diseaseChristina M Lill, Aina Rengmark, Lasse Pihlstrøm, et al.Pageof 20