Results 1 to 10 of about 29,163 (201)

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
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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
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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
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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
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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
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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
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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
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Associação na mesma família das doenças de Charcot-Marie-Tooth e de Friedreich

Arquivos de Neuro-Psiquiatria, 1972
Quatro irmãos com moléstias de Charcot-Marie-Tooth são estudados do ponto de vista clínico e genético. São ressaltadas, mediante análise da sintomatologia, as formas de transição no grande grupo de moléstias heredodegenerativas, sendo atribuída ...
Charles Peter Tilbery, Décio Cassiani Altimari, Luiz G. Gagliardi-Ferreira, José L. Alonso Nieto   +3 more
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Intermediate Charcot-Marie-Tooth disease [PDF]

Neuroscience Bulletin, 2014
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 slow motor nerve conduction velocity (MNCV) (45 m/s).
Lei, Liu, Ruxu, Zhang
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