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RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
Kumar KR, Cortese A, Tomlinson SE, Efthymiou S, Ellis M, Zhu D, Stoll M, Dominik N, Tisch S, Tchan M, Wu KHC, Devery S, Spring PJ, Hawke S, Cremer P, Ng K, Reilly MM, Nicholson GA, Houlden H, Kennerson M. Kumar KR, et al. Among authors: zhu d. Brain. 2020 Oct 1;143(10):e82. doi: 10.1093/brain/awaa244. Brain. 2020. PMID: 32949124 Free PMC article. No abstract available.
CMT with pyramidal features. Charcot-Marie-Tooth.
Vucic S, Kennerson M, Zhu D, Miedema E, Kok C, Nicholson GA. Vucic S, et al. Among authors: zhu d. Neurology. 2003 Feb 25;60(4):696-9. doi: 10.1212/01.wnl.0000048561.61921.71. Neurology. 2003. PMID: 12601114
9,034 results