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Year Number of Results
1992 1
1993 3
1995 1
1996 2
1997 1
1998 3
1999 7
2000 5
2001 6
2002 8
2003 9
2004 5
2005 12
2006 7
2007 10
2008 3
2009 8
2010 2
2011 6
2012 5
2013 15
2014 4
2015 6
2016 6
2017 11
2018 13
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2020 10
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2023 2
2024 3

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180 results

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Page 1
Autosomal-recessive Charcot-Marie-Tooth diseases.
Vallat JM, Tazir M, Magdelaine C, Sturtz F, Grid D. Vallat JM, et al. J Neuropathol Exp Neurol. 2005 May;64(5):363-70. doi: 10.1093/jnen/64.5.363. J Neuropathol Exp Neurol. 2005. PMID: 15892292 Review.
In certain countries around the Mediterranean basin such as Algeria, which have a high prevalence of consanguineous marriages, autosomal-recessive (AR) inheritance may account for more than 50% of all forms of Charcot-Marie-Tooth (CMT) disease. …
In certain countries around the Mediterranean basin such as Algeria, which have a high prevalence of consanguineous marriages, autosomal- …
Charcot-Marie-Tooth disease type 4C associated with myasthenia gravis: coincidental or a foreseeable association?
Lorenzoni PJ, Kay CSK, Ducci RD, Fustes OJH, Werneck LC, Scola RH. Lorenzoni PJ, et al. Neurol Sci. 2022 Jan;43(1):705-707. doi: 10.1007/s10072-021-05591-7. Epub 2021 Sep 16. Neurol Sci. 2022. PMID: 34532771
We reported one patient with Charcot-Marie-Tooth type 4C (CMT4C) who developed seropositive myasthenia gravis. Neuromuscular junction alterations in CMT4C patients have not yet been reported. However, few patients have been reporte …
We reported one patient with Charcot-Marie-Tooth type 4C (CMT4C) who developed seropositive myasth …
[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 …
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. CMT is generally divided into demyelinating forms, axonal forms and in …
Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy that comprises a complex group of m …
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D. Piscosquito G, et al. J Peripher Nerv Syst. 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175. J Peripher Nerv Syst. 2016. PMID: 27231023 Free PMC article.
Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive (AR) demyelinating neuropathy associated to SH3TC2 mutations, characterized by early onset, spine deformities, and cranial nerve involvement. We sc …
Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive (AR) demyel …
Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.
Tazir M, Bellatache M, Nouioua S, Vallat JM. Tazir M, et al. J Peripher Nerv Syst. 2013 Jun;18(2):113-29. doi: 10.1111/jns5.12026. J Peripher Nerv Syst. 2013. PMID: 23781959 Review.
The prevalence of Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) varies in different populations. ...Recent clinical, morphological and molecular investigations of CMT families with autosomal recessive inheri …
The prevalence of Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) varies in …
Charcot-Marie-Tooth Neuropathy Type 4H - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Delague V. Delague V. 2013 Aug 8. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2013 Aug 8. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 23926620 Free Books & Documents. Review.
THIS ARCHIVAL VERSION IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE. CLINICAL CHARACTERISTICS: Charcot-Marie-Tooth neuropathy type 4H (CMT4H) is a demyelinating form of CMT that is characterized by early …
THIS ARCHIVAL VERSION IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE. CLINICAL CHARACTERISTICS: Charcot- …
Charcot-Marie-Tooth Neuropathy Type 4J - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Li J. Li J. 2013 Nov 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2013 Nov 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24228289 Free Books & Documents. Review.
THIS ARCHIVAL VERSION IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE. CLINICAL CHARACTERISTICS: Charcot-Marie-Tooth neuropathy type 4J (CMT4J) is a peripheral neuropathy characterized by childhood onset (manifest …
THIS ARCHIVAL VERSION IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE. CLINICAL CHARACTERISTICS: Charcot- …
Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.
Jerath NU, Mankodi A, Crawford TO, Grunseich C, Baloui H, Nnamdi-Emeratom C, Schindler AB, Heiman-Patterson T, Chrast R, Shy ME. Jerath NU, et al. Muscle Nerve. 2018 May;57(5):749-755. doi: 10.1002/mus.25981. Epub 2017 Oct 24. Muscle Nerve. 2018. PMID: 28981955 Free PMC article.
INTRODUCTION: This study analyzes and describes atypical presentations of Charcot-Marie-Tooth disease type 4C (CMT4C). METHODS: We present clinical and physiologic features of 5 patients with CMT4C caused by biallelic privat …
INTRODUCTION: This study analyzes and describes atypical presentations of Charcot-Marie-Tooth disease type …
180 results