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NPJ Genomic Medicine|August 14, 2020
Identity by descent analysis identifies founder events and links <i>SOD1</i> familial and sporadic ALS casesLyndal Henden, Natalie A Twine, Piotr Szul, et al.
Journal of the Peripheral Nervous System : JPNS|February 28, 2022
Long read sequencing overcomes challenges in the diagnosis of SORD neuropathyBianca R Grosz, Igor Stevanovski, Sara Negri, et al.
Archives of Neurology|February 22, 2012
Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and YirrkalaSandra Martins, Bing-Wen Soong, Virginia C N Wong, et al.
Neurology|April 8, 2018
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3Manoj Kanhangad, Kayla Cornett, Megan H Brewer, et al.
Annals of Neurology|December 15, 2015
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signsObaid M Albulym, Marina L Kennerson, Matthew B Harms, et al.
Plos One|June 10, 2014
Mutant human FUS Is ubiquitously mislocalized and generates persistent stress granules in primary cultured transgenic zebrafish cellsJamie Rae Acosta, Claire Goldsbury, Claire Winnick, et al.
Neurobiology of Disease|September 28, 2025
A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementiaKyrah M Thumbadoo, Laura R Nementzik, Molly E V Swanson, et al.
Human Molecular Genetics|January 9, 2013
A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) geneMarina L Kennerson, Eppie M Yiu, David T Chuang, et al.
Biology Open|September 8, 2018
Neuronal cell culture from transgenic zebrafish models of neurodegenerative diseaseJamie R Acosta, Maxinne Watchon, Kristy C Yuan, et al.
BMC Neurology|August 30, 2008
Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9Agnes A Luty, John B J Kwok, Elizabeth M Thompson, et al.
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