Neurology · 2008 · 137 citations · 18 references
Progression of CMT1A can be detected by both the CMT Neuropathy Score (CMTNS) and the Neuropathy Impairment Score (NIS). This supports the feasibility of clinical trials to detect a slowing of disease progression using either or both of these scales as outcome measures. Since the CMTNS combines symptoms, signs, and electrophysiology and the NIS is based solely on the neurologic examination, the two scales may be complementary.
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DNA duplication associated with Charcot-Marie-Tooth disease type 1A
James R. Lupski, Roberto Montes‐de‐Oca‐Luna, Susan Slaugenhaupt et al. · Cell · 1991 · 1.3K citations
Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease
H. Skre · Clinical Genetics · 1974 · 897 citations