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Journal of Acquired Immune Deficiency Syndromes (1999)|November 26, 2010
Screening low-frequency SNPS from genome-wide association study reveals a new risk allele for progression to AIDSSigrid Le Clerc, Cédric Coulonges, Olivier Delaneau, et al.
Neurobiology of Aging|March 12, 2014
No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathyMeinie Seelen, Anne E Visser, Daniel J Overste, et al.
Brain : a Journal of Neurology|February 17, 2023
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general populationMatteo Zanovello, Kristina Ibáñez, Anna-Leigh Brown, et al.
Brain Communications|December 22, 2025
The role of disease-associated short tandem repeats in amyotrophic lateral sclerosisJoke J F A van Vugt, Ramona A J Zwamborn, Egor Dolzhenko, et al.
Bioinformatics (Oxford, England)|May 29, 2019
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regionsEgor Dolzhenko, Viraj Deshpande, Felix Schlesinger, et al.
Stroke|December 5, 2019
RNA-Sequencing Highlights Inflammation and Impaired Integrity of the Vascular Wall in Brain Arteriovenous MalformationsAllard J Hauer, Rachel Kleinloog, Fabrizio Giuliani, et al.
Nature Genetics|June 10, 2024
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's diseasePaul J Hop, Dongbing Lai, Pamela J Keagle, et al.
Brain : a Journal of Neurology|April 23, 2019
The expanded clinical spectrum of anti-GABABR encephalitis and added value of KCTD16 autoantibodiesMarleen H van Coevorden-Hameete, Marienke A A M de Bruijn, Esther de Graaff, et al.
Iscience|May 19, 2025
Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophyMaria M Zwartkruis, Joris V Kortooms, Demi Gommers, et al.
Plos Genetics|July 3, 2013
DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcriptsDaria V Zhernakova, Eleonora de Klerk, Harm-Jan Westra, et al.
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