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Human Mutation|January 6, 2017
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMOMartina Skopkova, Friederike Hennig, Byung-Sik Shin, et al.Human Genetics|July 3, 2016
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2Lyndal Henden, Saskia Freytag, Zaid Afawi, et al.Journal of Neurology, Neurosurgery, and Psychiatry|November 7, 2019
Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 miceEmily P McCann, Jennifer A Fifita, Natalie Grima, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 10, 2023
Clinical testing panels for ALS: global distribution, consistency, and challengesAllison A Dilliott, Ahmad Al Nasser, Marwa Elnagheeb, et al.Nature Communications|November 13, 2022
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease durationSarah Opie-Martin, Alfredo Iacoangeli, Simon D Topp, et al.Pageof 3