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Annals of Clinical and Translational Neurology|September 19, 2020
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth diseaseJulius Rönkkö, Svetlana Molchanova, Anya Revah-Politi, et al.
International Journal of Radiation Oncology, Biology, Physics|February 8, 2000
Preliminary report of toxicity following 3D radiation therapy for prostate cancer on 3DOG/RTOG 9406J M Michalski, J A Purdy, K Winter, et al.
Clinical Genetics|January 16, 2015
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tonguesJodi Warman Chardon, A C Smith, J Woulfe, et al.
Annals of Neurology|December 24, 2016
Proteomics of rimmed vacuoles define new risk allele in inclusion body myositisAnne-Katrin Güttsches, Stefen Brady, Kathryn Krause, et al.
Neurobiology of Aging|January 17, 2017
Genetic epidemiology of motor neuron disease-associated variants in the Scottish populationHolly A Black, Danielle J Leighton, Elaine M Cleary, et al.
Acta Neuropathologica|November 13, 2014
Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifierJenny Russ, Elaine Y Liu, Kathryn Wu, et al.
Neurobiology of Disease|June 8, 2013
Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with ageJudith Eschbach, Jérôme Sinniger, Jamal Bouitbir, et al.
Neurology|March 31, 2012
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophyM B Harms, K M Ori-McKenney, M Scoto, et al.
European Journal of Neurology|February 22, 2019
Tau positron emission tomography imaging in C9orf72 repeat expansion carriersC V Ly, L Koenig, J Christensen, et al.
Muscle & Nerve|September 19, 2024
Access for ALL in ALS: A large-scale, inclusive, collaborative consortium to unlock the molecular and genetic mechanisms of amyotrophic lateral sclerosisJames D Berry, Sabrina Paganoni, Matthew B Harms, et al.
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