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2003 1
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Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
Berciano J, García A, Gallardo E, Peeters K, Pelayo-Negro AL, Álvarez-Paradelo S, Gazulla J, Martínez-Tames M, Infante J, Jordanova A. Berciano J, et al. J Neurol. 2017 Aug;264(8):1655-1677. doi: 10.1007/s00415-017-8474-3. Epub 2017 Mar 31. J Neurol. 2017. PMID: 28364294 Review.
Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy with great variety of phenotypes, inheritance patterns, and causative genes. ...A systematic computer-based literature search was conducted on PubMed, using the followi
Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy with great variety of phenot
Intermediate Charcot-Marie-Tooth disease.
Liu L, Zhang R. Liu L, et al. Neurosci Bull. 2014 Dec;30(6):999-1009. doi: 10.1007/s12264-014-1475-7. Epub 2014 Oct 17. Neurosci Bull. 2014. PMID: 25326399 Free PMC article. Review.
Charcot-Marie-Tooth (CMT) disease is a common neurogenetic disorder and its heterogeneity is a challenge for genetic diagnostics. The genetic diagnostic procedures for a CMT patient can be explored according to the electrophysiological criteria: very s
Charcot-Marie-Tooth (CMT) disease is a common neurogenetic disorder and its heterogeneity is a challenge for gen
Autosomal recessive Charcot-Marie-Tooth neuropathy.
Espinós C, Calpena E, Martínez-Rubio D, Lupo V. Espinós C, et al. Adv Exp Med Biol. 2012;724:61-75. doi: 10.1007/978-1-4614-0653-2_5. Adv Exp Med Biol. 2012. PMID: 22411234 Review.
Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy that comprises a complex group of more than 50 diseases, is the most common inherited neuropathy. ...The most common pattern of inheritance is autosomal dominant (AD), althoug
Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy that comprises a complex group of m
A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L.
Stone EJ, Kolb SJ, Brown A. Stone EJ, et al. Cytoskeleton (Hoboken). 2021 Mar;78(3):97-110. doi: 10.1002/cm.21676. Epub 2021 Jun 3. Cytoskeleton (Hoboken). 2021. PMID: 33993654 Free PMC article. Review.
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders and can be caused by mutations in over 100 different genes. ...The majority of these mutations are inherited dominantly, but some are inherited recessively
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders and can be caused b
[Molecular genetics of inherited neuropathies].
Takashima H. Takashima H. Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Rinsho Shinkeigaku. 2006. PMID: 16541790 Review. Japanese.
Inherited neuropathies are clinically and genetically heterogeneous. At least 28 genes and 12 loci have been associated with Charcot-Marie-Tooth disease (CMT) and related inherited neuropathies. ...Genetic studies have revealed the following gene mutat …
Inherited neuropathies are clinically and genetically heterogeneous. At least 28 genes and 12 loci have been associated with Charcot- …
Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.
Nicholson G, Myers S. Nicholson G, et al. Neuromolecular Med. 2006;8(1-2):123-30. doi: 10.1385/nmm:8:1-2:123. Neuromolecular Med. 2006. PMID: 16775371 Review.
The Charcot-Marie-Tooth (CMT) neuropathies divide into two main electrophysiological groups with slow and near normal conduction velocities corresponding to Schwann cell and axonal pathology. ...Intermediate forms of CMT may be associated with unique …
The Charcot-Marie-Tooth (CMT) neuropathies divide into two main electrophysiological groups with slow and near normal c …
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.
Pareyson D, Scaioli V, Laurà M. Pareyson D, et al. Neuromolecular Med. 2006;8(1-2):3-22. doi: 10.1385/nmm:8:1-2:3. Neuromolecular Med. 2006. PMID: 16775364 Review.
Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of disorders sharing the same clinical phenotype, characterized by distal limb muscle wasting and weakness, usually with skeletal deformities, distal sensory loss, and abnormalities
Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of disorders sharing the same clinical ph
[Advances in genetic studies of Charcot-Marie-Tooth disease type 4 (CMT4)].
Xu Y, Zhang JY, Yang BY, He ZH, Zhang MC, Yu Z, Gu MM. Xu Y, et al. Yi Chuan. 2015 Jun;37(6):501-9. doi: 10.16288/j.yczz.14-412. Yi Chuan. 2015. PMID: 26351045 Review. Chinese.
The Charcot-Marie-Tooth disease (CMT) is one of the most common human inherited peripheral neuropathies. The most common pattern of inheritance is autosomal dominant, with less often occurrence autosomal recessive and X-linked dominant/recess
The Charcot-Marie-Tooth disease (CMT) is one of the most common human inherited peripheral neuropathies. The mos …
[The laminopathy saga].
Bonne G. Bonne G. Rev Neurol. 2003 Oct 16-31;37(8):772-4. Rev Neurol. 2003. PMID: 14593639 Free article. Review. Spanish.
Mutations in this gene are responsible for autosomal dominant Emery-Dreifuss disease, as well as other diseases that are phenotypically very distinct, such as limb girdle muscular dystrophy associated with cardiac conduction defects (LGMD1B), dilated myocardiopathy with co …
Mutations in this gene are responsible for autosomal dominant Emery-Dreifuss disease, as well as other diseases that are phenotypical …
[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].
Berciano J, Sevilla T, Casasnovas C, Sivera R, Vílchez JJ, Infante J, Ramón C, Pelayo-Negro AL, Illa I; Programa 3 (Enfermedades Neuromusculares) del Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) del Instituto de Salud Carlos III. Berciano J, et al. Neurologia. 2012 Apr;27(3):169-78. doi: 10.1016/j.nrl.2011.04.015. Epub 2011 Jun 23. Neurologia. 2012. PMID: 21703725 Free article. Review. Spanish.
INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy. In accordance with the inheritance pattern and degree of slowing of motor conduction velocity (MCV) of the median nerve, CMT encompasses five main forms: …
INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy. In accordance …
14 results