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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Cortese A, Zhu Y, Rebelo AP, et al.
Nature genetics, 2020, 52, 5, p 473
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A
Wang H, Davison M, Wang K, et al.
Annals of clinical and translational neurology, 2020, 7, 1, p 69
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
Gonzales MA, Feely SME, Speziani F, et al.
Brain : a journal of neurology, 2014, 137, Pt11, p 2897
High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A. Results of a randomized, double-masked, controlled trial
Lewis RA, McDermott MP, Herrmann DN, et al.
JAMA Neurology, 2013, 70, 8, p. 981-987
A review of genetic counseling for Charcot Marie Tooth disease (CMT)
Siskind CE, Panchal S, Smith CO, et al.
Journal of genetic counseling, 2013, 22, 4, p. 422-436
Strategy for genetic testing in Charcot-Marie-disease
Miller LJ, Saporta ASD, Sottile SL, et al.
Acta myologica, 2011, 30, 2, p. 109-116
Charcot-Marie-Tooth disease subtypes and genetic testing strategies
Saporta ASD, Sottile SL, Miller LJ, et al.
Annals of neurology, 2011, 69, 1, p. 22-33
MFN2 mutations cause severe phenotypes in most patients with CMT2A
Feely SME, Laura M, Siskind CE, et al.
Neurology, 2011, 76, 20, p. 1690-1696
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy
Nicholson GA, Kaler SG, Kowalski B, et al.
American journal of human genetics (The), 2010, 86, 3, p. 343-352
