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Regulating PMP22 expression as a dosage sensitive neuropathy gene.
Pantera H, Shy ME, Svaren J. Pantera H, et al. Brain Res. 2020 Jan 1;1726:146491. doi: 10.1016/j.brainres.2019.146491. Epub 2019 Oct 3. Brain Res. 2020. PMID: 31586623 Free PMC article. Review.
Structural variation in the human genome has emerged as a major cause of disease as genomic data have accumulated. One of the most common structural variants associated with human disease causes the heritable neuropathy known as Charcot-Marie-Tooth …
Structural variation in the human genome has emerged as a major cause of disease as genomic data have accumulated. One of the most co …
[Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Molecular-genetic aspects].
Hertz MJ, Jensen AD, Brandt CA, Bisgård C. Hertz MJ, et al. Ugeskr Laeger. 1995 Jun 19;157(25):3613-8. Ugeskr Laeger. 1995. PMID: 7652980 Review. Danish.
Hereditary motor and sensory neuropathy (HMSN) comprises a heterogenous group of peripheral neuropathies which are classified on the basis of symptoms, mode of inheritance and electrophysiological and neuropathological investigations. HMSN type I, or Charcot-Mari …
Hereditary motor and sensory neuropathy (HMSN) comprises a heterogenous group of peripheral neuropathies which are classified on the basis o …