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Brain : a Journal of Neurology|February 28, 2012
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72Adriano Chiò, Giuseppe Borghero, Gabriella Restagno, et al.Neurobiology of Aging|March 16, 2012
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS populationMario Sabatelli, Francesca Luisa Conforti, Marcella Zollino, et al.Science Translational Medicine|February 23, 2022
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALSPaul J Hop, Ramona A J Zwamborn, Eilis Hannon, et al.Cell Genomics|October 22, 2024
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic dataSara Saez-Atienzar, Cleide Dos Santos Souza, Ruth Chia, et al.Nature Genetics|February 16, 2021
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architectureRuth Chia, Marya S Sabir, Sara Bandres-Ciga, et al.Nature Genetics|July 26, 2016
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosisWouter van Rheenen, Aleksey Shatunov, Annelot M Dekker, et al.Nature Genetics|December 7, 2021
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biologyWouter van Rheenen, Rick A A van der Spek, Mark K Bakker, et al.JAMA Neurology|August 30, 2021
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral SclerosisJanel O Johnson, Ruth Chia, Danny E Miller, et al.Pageof 8