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Human Genetics|August 5, 2016
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2Alexander P Drew, Anthony N Cutrupi, Megan H Brewer, et al.
Seminars in Pediatric Neurology|July 3, 2018
Infantile-Onset Myelin Protein Zero-Related Demyelinating Neuropathy Presenting as an Upper Extremity MonoplegiaEppie M Yiu, Jithangi Wanigasinghe, Mark T Mackay, et al.
Neurogenetics|July 17, 2014
Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathiesShelisa Tey, Azlina Ahmad-Annuar, Alexander P Drew, et al.
Scientific Reports|December 20, 2019
A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)Bianca R Grosz, Natasha B Golovchenko, Melina Ellis, et al.
Archives of Neurology|March 14, 2003
Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a reviewMichaela Auer-Grumbach, Peter De Jonghe, Kristien Verhoeven, et al.
Clinical Chemistry|January 4, 2007
Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth diseaseMarina L Kennerson, Trent Warburton, Eva Nelis, et al.
DNA and Cell Biology|March 29, 2014
Mutations in the SPTLC1 protein cause mitochondrial structural abnormalities and endoplasmic reticulum stress in lymphoblastsSimon J Myers, Chandra S Malladi, Ryan A Hyland, et al.
Neurobiology of Aging|May 3, 2013
Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosisShu Yang, Jennifer A Fifita, Kelly L Williams, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|August 19, 2016
A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitroJennifer A Fifita, Kelly L Williams, Vinod Sundaramoorthy, et al.
Archives of Neurology|July 11, 2007
Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsiesJun Li, Khaled Ghandour, Danijela Radovanovic, et al.
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