Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 1
2008 1
2012 1
2013 1
2015 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

6 results

Results by year

Filters applied: . Clear all
Page 1
Electrophysiological characterization of Charcot-Marie-Tooth disease type 1A in Taiwan.
Huang LW, Lin KP, Chang MH, Liao YC, Liao KK, Soong BW, Lee YC. Huang LW, et al. J Chin Med Assoc. 2012 May;75(5):197-202. doi: 10.1016/j.jcma.2012.03.005. Epub 2012 Apr 29. J Chin Med Assoc. 2012. PMID: 22632984 Free article.
We also compared the electrophysiological parameters of the CMT1A patients with those of 20 patients with early-onset Charcot-Marie-Tooth disease type 1B (CMT1B). RESULTS: The patients with CMT1A had a significant but variable degree of s …
We also compared the electrophysiological parameters of the CMT1A patients with those of 20 patients with early-onset Charcot-Mari …
Charcot-Marie-Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication.
Speevak MD, Farrell SA. Speevak MD, et al. Eur J Med Genet. 2013 Oct;56(10):566-9. doi: 10.1016/j.ejmg.2013.06.004. Epub 2013 Jun 25. Eur J Med Genet. 2013. PMID: 23811036
CMT patterns of inheritance include dominant, recessive, and X-linked disorders. Charcot-Marie-Tooth disease, type 1B (CMT1B, OMIM 118200) is an autosomal dominant neuropathy caused by mutations in myelin protein zero (MPZ, OMIM 159440), …
CMT patterns of inheritance include dominant, recessive, and X-linked disorders. Charcot-Marie-Tooth disease, …
Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients.
Lei L, Xiaobo L, Zhiqiang L, Yongzhi X, Shunxiang H, Huadong Z, Beisha T, Ruxu Z. Lei L, et al. Eur J Neurol. 2023 Apr;30(4):1069-1079. doi: 10.1111/ene.15700. Epub 2023 Feb 5. Eur J Neurol. 2023. PMID: 36692866
Mutations that changed the cysteine residue (p.Arg98Cys, p.Cys127Trp, p.Ser140Cys and p.Cys127Arg) in the extracellular region were more likely to cause severe early-onset Charcot-Marie-Tooth disease type 1B (CMT1B) or Dejerine-Sottas syn …
Mutations that changed the cysteine residue (p.Arg98Cys, p.Cys127Trp, p.Ser140Cys and p.Cys127Arg) in the extracellular region were more lik …
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR. Roa BB, et al. Hum Mutat. 1996;7(1):36-45. doi: 10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N. Hum Mutat. 1996. PMID: 8664899
Mutations in the MPZ gene are associated with the demyelinating peripheral neuropathies Charcot-Marie-Tooth disease type 1B (CMT1B), and the more severe Dejerine-Sottas syndrome (DSS). ...
Mutations in the MPZ gene are associated with the demyelinating peripheral neuropathies Charcot-Marie-Tooth disease …
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC). Sanmaneechai O, et al. Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25. Brain. 2015. PMID: 26310628 Free PMC article.
Genetic testing was performed in all patients and/or in first- or second-degree relatives to document mutation in MPZ gene indicating diagnosis of Charcot-Marie-Tooth disease type 1B. There were 103 patients from 71 families with 47 diffe …
Genetic testing was performed in all patients and/or in first- or second-degree relatives to document mutation in MPZ gene indicating diagno …
A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression.
Magot A, Latour P, Mussini JM, Mourtada R, Guiheneuc P, Pereon Y. Magot A, et al. Muscle Nerve. 2008 Aug;38(2):1055-9. doi: 10.1002/mus.21050. Muscle Nerve. 2008. PMID: 18663734
Myelin protein zero gene (MPZ) mutations usually cause a demyelinating variant of Charcot-Marie-Tooth disease type 1B (CMT1B), but there is a wide spectrum of phenotypic manifestation of these mutations. ...
Myelin protein zero gene (MPZ) mutations usually cause a demyelinating variant of Charcot-Marie-Tooth disease …