Results 1 to 10 of about 26,653 (213)

Charcot–Marie–Tooth Disease

Journal of Rawalpindi Medical College, 2018
Charcot–Marie–Tooth (CMT) disease is the most common hereditary polyneuropathy and is classically associated with an insidious onset of distal predominant motor and sensory loss, muscle wasting, and pes cavus.The disease illustrates a multitude of ...
Hafiz Muhammad Noman, Haleema Akbar et al
doaj   +6 more sources

Research Trends and Insights of Charcot-Marie-Tooth Disease (CMT): A Visualization Analysis (2000-2025). [PDF]

Health Sci Rep
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
Cao L, Liu Y, Li J, Xia X, Zhao G.
europepmc   +2 more sources

Human Peripheral Myelin Protein 2 and Charcot-Marie-Tooth Disease or Structural Missense Variants Show Different Binding to Myelin-Like Lipid Monolayers. [PDF]

Chembiochem
We compare the membrane affinity of the P2 myelin protein and its Charcot–Marie–Tooth disease variants on a myelin‐like lipid monolayer. Epifluorescence microscopy reveals different two‐dimensional (2D) clustering and pressure‐dependent binding. Single‐point mutations in the P2 β‐barrel and α‐helix affect affinity.
Schöffmann FA, Imran MAS, Schwieger C, Hetland Ø, Jerschabek V, Raasakka A, Kursula P, Hinderberger D.   +7 more
europepmc   +2 more sources

Co-occurrence of Charcot-Marie-Tooth disease type 2A and multiple sclerosis: A case report [PDF]

SAGE Open Medical Case Reports
The pathophysiology of genetic peripheral demyelinating and axonal neuropathies typically differs from that of central demyelinating diseases. However, case reports in the literature have demonstrated instances where these distinct disorders can manifest
Sara Habib, Nidhiben A. Anadani, Danny Samkutty   +2 more
doaj   +2 more sources

Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease

Neural Regeneration Research, 2023
Schwann cells, the myelinating glia of the peripheral nervous system, wrap axons multiple times to build their myelin sheath. Myelin is of paramount importance for axonal integrity and fast axon potential propagation.
Nadège Hertzog, Claire Jacob
doaj   +1 more source

The impact of pain and nocturnal cramps on sleep quality in Charcot Marie Tooth disease: a case-control study [PDF]

Sleep Science, 2022
Introduction: Charcot-Marie-Tooth disease is an inherited neuropathy that presents two main forms - type 1 and type 2 -, differentiated by the speed of the nervous conduction.
Cynthia Coelho Souza, Julia Ribeiro da Silva Vallim, Eduardo Luis de Aquino Neves, Paula Santos Nunes, Iandra Maria Pinheiro de França Costa, Lidiane Carine Lima Santos Barreto, Catarina Andrade Garcez, Adriano Antunes de Souza Araujo   +7 more
doaj   +1 more source

Charcot–Marie–Tooth disease [PDF]

European Journal of Human Genetics, 2009
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders presenting with the phenotype of a chronic progressive neuropathy affecting both the motor and sensory nerves. During the last decade over two dozen genes have been identified in which mutations cause CMT. The disease illustrates a multitude of genetic principles, including
Kinga, Szigeti, James R, Lupski
openaire   +4 more sources

A novel missense mutation in PLEKHG5 gene causing an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease in an Iraqi family

Egyptian Journal of Medical Human Genetics, 2023
Background Charcot–Marie–Tooth disease comprises a large spectrum of clinically heterogeneous disorders. PLEKHG5 variants have shown an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease C and distal spinal muscular atrophy IV.
Mostafa Neissi, Hadideh Mabudi, Adnan Issa Al-Badran, Javad Mohammadi-Asl, Raed Abdulelah Al-Badran   +4 more
doaj   +1 more source

Charcot-Marie-Tooth-1A and sciatic nerve crush rat models: insights from proteomics

Neural Regeneration Research, 2023
The sensorimotor and histological aspects of peripheral neuropathies were already studied by our team in two rat models: the sciatic nerve crush and the Charcot-Marie-Tooth-1A disease.
Zeina Msheik, Stephanie Durand, Emilie Pinault, Martial Caillaud, Laetitia Vignaud, Fabrice Billet, Mohamed El Massry, Alexis Desmouliere   +7 more
doaj   +1 more source

Report of a Patient with Multiple Mutations Leading to Charcot-Marie-Tooth Disease and Distal Spinal Muscular Atrophy: A Case Report

Iranian Journal of Public Health, 2020
The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs.
Atefeh MEHRABI, Dariush D. FARHUD, Karim NAYERNIA, Hossein SADIGHI, Marjan ZARIF-YEGANEH   +4 more
doaj   +1 more source