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
1994 1
2003 2
2006 1
2009 3
2010 2
2011 1
2012 2
2013 1
2015 1
2016 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

13 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 …
Genetic basis of inherited peripheral neuropathies.
Suter U, Patel PI. Suter U, et al. Hum Mutat. 1994;3(2):95-102. doi: 10.1002/humu.1380030203. Hum Mutat. 1994. PMID: 7515304 Review.
In particular, the molecular mechanisms underlying the autosomal dominantly inherited disorders Charcot-Marie-Tooth disease type 1A (CMT1A), Charcot-Marie-Tooth disease type 1B (CMT1B), and hereditary neuropathy with liability to pressure …
In particular, the molecular mechanisms underlying the autosomal dominantly inherited disorders Charcot-Marie-Tooth disease type 1A (CMT1A), …
A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.
Lancaster E, Elman LB, Scherer SS. Lancaster E, et al. Muscle Nerve. 2010 Apr;41(4):555-8. doi: 10.1002/mus.21546. Muscle Nerve. 2010. PMID: 19918771 Free PMC article.
We describe a patient with both neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B. Although one might expect an overwhelming tumor burden due to the combination of these two disorders, the two mutations did not appear to in …
We describe a patient with both neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B. …
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, …
A rare association between multiple sclerosis and Charcot-Marie-Tooth type 1B.
Cortese R, Zoccolella S, Muglia M, Patitucci A, Scarafino A, Paolicelli D, Simone IL. Cortese R, et al. Brain Behav. 2016 Sep 25;6(12):e00580. doi: 10.1002/brb3.580. eCollection 2016 Dec. Brain Behav. 2016. PMID: 28032003 Free PMC article.
The association between multiple sclerosis (MS) and hereditary and sporadic demyelinating disorders of the peripheral nervous system is extremely rare. We herein report a case of Charcot-Marie-Tooth disease type 1B with p.Val102fs mutatio …
The association between multiple sclerosis (MS) and hereditary and sporadic demyelinating disorders of the peripheral nervous system is extr …
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 …
U1 snRNA mis-binding: a new cause of CMT1B.
Crehalet H, Latour P, Bonnet V, Attarian S, Labauge P, Bonello N, Bernard R, Millat G, Rousson R, Bozon D. Crehalet H, et al. Neurogenetics. 2010 Feb;11(1):13-9. doi: 10.1007/s10048-009-0199-8. Epub 2009 May 28. Neurogenetics. 2010. PMID: 19475438
We report the molecular characterization of two splice mutations in two different French families affected with a late onset form of Charcot-Marie-Tooth disease type 1B (CMT1B), an autosomal dominant inherited disorder caused by mutations …
We report the molecular characterization of two splice mutations in two different French families affected with a late onset form of Char …
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.
Fabrizi GM, Pellegrini M, Angiari C, Cavallaro T, Morini A, Taioli F, Cabrini I, Orrico D, Rizzuto N. Fabrizi GM, et al. Neuromuscul Disord. 2006 Mar;16(3):183-7. doi: 10.1016/j.nmd.2006.01.006. Epub 2006 Feb 20. Neuromuscul Disord. 2006. PMID: 16488608
Autosomal dominant Charcot-Marie-Tooth disease type 1B (CMT1B) is caused by heterozygous mutations in the extracellular domain of P0. ...
Autosomal dominant Charcot-Marie-Tooth disease type 1B (CMT1B) is caused by heterozygous mutations …
13 results