Results 61 to 70 of about 30,318 (229)
Early Onset Charcot-Marie-Tooth Disease
Pediatric Neurology Briefs, 2005 The clinical signs and genetic analysis of early-onset Charcot-Marie-Tooth disease (CMT) in a 2-year-old boy and members of his family are reported from the Academic Medical Center, Amsterdam, and Sophia Children’s Hospital, Rotterdam, the Netherlands.
J Gordon Millichap
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Charcot–Marie–Tooth disease: Genetics, epidemiology and complications [PDF]
, 2017 Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms.
Ahmadinejad, Fereshteh. +3 more
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Health Science Reports, Volume 9, Issue 3, March 2026.ABSTRACT Background and Aims The Charcot–Marie–Tooth disease (CMT) comprises genetically diverse motor and sensory neuropathies. This study aims to conduct a comprehensive investigation into the current academic and clinical status of CMT, thereby providing researchers with an extensive understanding of the research landscape and analysis of prevailing
Lanxiao Cao +4 more
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Stem Cell Research(Charcot-Marie-Tooth disease (CMT) is a genetic disorder affecting peripheral nerves. The human induced pluripotent stem cell (iPSC) line JUCTCi018-A was created using dermal fibroblasts from a Charcot-Marie-Tooth disease type 2EE (CMT2EE) patient with a
Nidaa A. Ababneh +8 more
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Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Yasmina Rahmuni +9 more
wiley +1 more source
The causes of Charcot-Marie-Tooth disease [PDF]
, 2018 Charcot-Marie-Tooth (CMT) disease serves as the summary term for the most frequent forms of inherited peripheral neuropathies that affect motor and sensory nerves. In the last 12 years, 14 genes have been identified that cause different CMT subforms. The
Suter, U., Young, P.
core
Upgrade on the orthopedic approach in Charcot-Marie-Tooth diseases [PDF]
, 2018 [Resumen] Objetivos Este artículo pretende ofrecer una síntesis acerca de las principales características de la intervención y abordaje de las complicaciones del pie en personas afectadas por las enfermedades de Charcot-Marie-Tooth.
Garabal-Barbeira, Jessica +5 more
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Protein Science, Volume 35, Issue 3, March 2026.Abstract Neurons depend on tightly regulated spatial proteostasis to maintain function across their extended morphology. The endoplasmic reticulum (ER), traditionally known for its function in protein synthesis, folding, and trafficking, has long been recognized as a central platform for directing proteins to organelles of the secretory and endocytic ...
J. Tabitha Hees, Angelika B. Harbauer
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Hand Involvement in Charcot-Marie-Tooth Disease 1A
Pediatric Neurology Briefs, 2008 Hand strength, function and disease-related symptoms were determined in 84 children, aged 2-16 years, with Charcot-Marie-Tooth disease type 1A (CMT1A) at University of Sydney, Children’s Hospital at Westmead, and Royal Children’s Hospital, Parkville ...
J Gordon Millichap
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Adeno-associated virus gene therapy to the rescue for Charcot-Marie-Tooth disease type 4J [PDF]
, 2021 John Svaren
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