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Year Number of Results
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Page 1
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.
Volodarsky M, Kerkhof J, Stuart A, Levy M, Brady LI, Tarnopolsky M, Lin H, Ainsworth P, Sadikovic B. Volodarsky M, et al. J Med Genet. 2021 Apr;58(4):284-288. doi: 10.1136/jmedgenet-2019-106641. Epub 2020 May 6. J Med Genet. 2021. PMID: 32376792
Charcot-Marie-Tooth disease (CMT) is one of the most common Mendelian disorders characterised by genetic heterogeneity, progressive distal muscle weakness and atrophy, foot deformities and distal sensory loss. ...
Charcot-Marie-Tooth disease (CMT) is one of the most common Mendelian disorders characterised by genetic heterog …
X-linked Charcot-Marie-Tooth disease.
Scherer SS, Kleopa KA. Scherer SS, et al. J Peripher Nerv Syst. 2012 Dec;17 Suppl 3(0 3):9-13. doi: 10.1111/j.1529-8027.2012.00424.x. J Peripher Nerv Syst. 2012. PMID: 23279425 Free PMC article. Review.
The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common form of hereditary motor and sensory neuropathy. ...Neurophysiology shows intermediate slowing of conduction and distal axonal loss. Nerve biopsies …
The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common form of hereditary motor and …
Update on Charcot-Marie-Tooth disease.
Patzkó A, Shy ME. Patzkó A, et al. Curr Neurol Neurosci Rep. 2011 Feb;11(1):78-88. doi: 10.1007/s11910-010-0158-7. Curr Neurol Neurosci Rep. 2011. PMID: 21080241 Free PMC article. Review.
Charcot-Marie-Tooth disease (CMT) disease encompasses a genetically heterogeneous group of inherited neuropathies, also known as hereditary motor and sensory neuropathies. ...The classic CMT phenotype reflects length-dependent axonal dege …
Charcot-Marie-Tooth disease (CMT) disease encompasses a genetically heterogeneous group of inherited neur …
[Charcot-Marie-Tooth disease].
Lee YC, Chang MH, Lin KP. Lee YC, et al. Acta Neurol Taiwan. 2008 Sep;17(3):203-13. Acta Neurol Taiwan. 2008. PMID: 18975529 Review. Chinese.
Charcot-Marie-Tooth disease (CMT), also called hereditary motor and sensory neuropathy (HMSN), is the most common inherited peripheral neuropathy, comprised by a group of genetically heterogeneous disorders that share clinical characteristics of …
Charcot-Marie-Tooth disease (CMT), also called hereditary motor and sensory neuropathy (HMSN), is the mos …
Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.
Pipis M, Rossor AM, Laura M, Reilly MM. Pipis M, et al. Nat Rev Neurol. 2019 Nov;15(11):644-656. doi: 10.1038/s41582-019-0254-5. Epub 2019 Oct 3. Nat Rev Neurol. 2019. PMID: 31582811 Review.
Charcot-Marie-Tooth disease and the related disorders hereditary motor neuropathy and hereditary sensory neuropathy, collectively termed CMT, are the commonest group of inherited neuromuscular diseases, and they exhibit wide phenotypic and genet …
Charcot-Marie-Tooth disease and the related disorders hereditary motor neuropathy and hereditary sensory …
Charcot-Marie-Tooth Disease and Implications on Corneal Refractive Surgery.
Moshirfar M, Tukan AN, Bundogji N, Ronquillo YC. Moshirfar M, et al. Ophthalmol Ther. 2022 Aug;11(4):1301-1307. doi: 10.1007/s40123-022-00524-9. Epub 2022 Jun 11. Ophthalmol Ther. 2022. PMID: 35690708 Free PMC article.
Charcot-Marie-Tooth (CMT) disease is the most common inherited polyneuropathy, with a characteristic phenotype of distal muscle weakness, atrophy, and sensory loss. Variable ocular involvement has been documented in patients with C …
Charcot-Marie-Tooth (CMT) disease is the most common inherited polyneuropathy, with a characteristic phenotype o …
Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease.
Kitani-Morii F, Noto YI. Kitani-Morii F, et al. Int J Mol Sci. 2020 Oct 8;21(19):7419. doi: 10.3390/ijms21197419. Int J Mol Sci. 2020. PMID: 33049996 Free PMC article. Review.
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited peripheral neuropathies. CMT patients typically show slowly progressive muscle weakness and sensory loss in a distal dominant pattern in childhood. The diagnosis …
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited peripheral neuropathies. CMT patients typi …
Novel variant in CADM3 causes Charcot-Marie-Tooth disease.
Yalcouyé A, Rebelo AP, Cissé L, Rives L, Bamba S, Cogan J, Esoh K, Diarra S, Ezell KM, Taméga A, Guinto CO, Dohrn MF, Hamid R, Fischbeck KH, Zuchner S, Landouré G. Yalcouyé A, et al. Brain Commun. 2023 Sep 5;5(5):fcad227. doi: 10.1093/braincomms/fcad227. eCollection 2023. Brain Commun. 2023. PMID: 38074074 Free PMC article.
CADM3 has been recently reported causing a rare axonal Charcot-Marie-Tooth disease in three independent Caucasian families carrying a recurrent change. ...The mean age at diagnosis was 33.9 years, and walking difficulty was commonly the first symptom. …
CADM3 has been recently reported causing a rare axonal Charcot-Marie-Tooth disease in three independent Caucasia …
The various Charcot-Marie-Tooth diseases.
Vallat JM, Mathis S, Funalot B. Vallat JM, et al. Curr Opin Neurol. 2013 Oct;26(5):473-80. doi: 10.1097/WCO.0b013e328364c04b. Curr Opin Neurol. 2013. PMID: 23945280 Review.
PURPOSE OF REVIEW: This review focuses on recent advances in the diagnostic approaches and the underlying pathophysiological mechanisms of Charcot-Marie-Tooth (CMT) disease. We also discuss the emerging therapies for this hereditary neuropathy. ...Char …
PURPOSE OF REVIEW: This review focuses on recent advances in the diagnostic approaches and the underlying pathophysiological mechanisms of …
176 results