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Frontiers in Neurology|July 12, 2021
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar AtaxiasAndreas Traschütz, Selina Reich, Astrid D Adarmes, et al.Annals of Neurology|April 28, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 PatientsAndreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, et al.Movement Disorders : Official Journal of the Movement Disorder Society|February 12, 2022
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar AtaxiaLiedewei Van de Vondel, Jonathan De Winter, Danique Beijer, et al.Nature Genetics|March 23, 2011
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approachBelinda Giardine, Joseph Borg, Douglas R Higgs, et al.Brain : a Journal of Neurology|March 25, 2021
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane traffickingLeslie E Sanderson, Kristina Lanko, Maysoon Alsagob, et al.Plos One|October 3, 2023
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease ProjectEva-Juliane Vollstedt, Harutyun Madoev, Anna Aasly, 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.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.Neuron|March 24, 2018
Genome-wide Analyses Identify KIF5A as a Novel ALS GeneAude Nicolas, Kevin P Kenna, Alan E Renton, 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 3