Results 11 to 20 of about 47,101 (300)

Connexin32 and X-Linked Charcot-Marie-Tooth Disease [PDF]

Neurobiology of Disease, 1997
This paper deals with the genetic defect responsible for the X-linked form of Charcot-Marie-Tooth disease.Mutations in the gap junction geneconnexin32(Cx32) cause the X-linked form of Charcot–Marie–Tooth disease, an inherited demyelinating ...
Bone, Linda Jo, Deschênes, Suzanne M., Fischbeck, Kenneth H., Scherer, Steven S.   +3 more
core   +5 more sources

Clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D (type Lom) in Russia [PDF]

Нервно-мышечные болезни, 2020
Introduction. Charcot–Marie–Tooth disease type 4D is a hereditary demyelinating neuropathy, that occurs with the high frequency in patients of Roma origin.
A. F. Murtazina, A. V. Polyakov, E. L. Dadali, G. E. Rudenskaya, M. D. Orlova, O. A. Shchagina, P. A. Sparber, S. A. Kurbatov, S. S. Nikitin, T. B. Milovidova, T. V. Fedotova   +10 more
core   +4 more sources

Genetics of Charcot-Marie-Tooth Disease

Pediatric Neurology Briefs, 1998
The nomenclature, classification, and genetic basis of Charcot-Marie-Tooth (CMT) disease are reviewed from the Department of Molecular and Cell Biology, University of Aberdeen Medical School, Scotland.
J Gordon Millichap
openaire   +4 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

From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease. [PDF]

J Tissue Eng
Peripheral neuropathies are disorders affecting the peripheral nervous system. Among them, Charcot-Marie-Tooth disease is an inherited sensorimotor neuropathy for which no effective treatment exists yet.
Scherrer C, Loret C, Védrenne N, Buckley C, Lia AS, Kermene V, Sturtz F, Favreau F, Rovini A, Faye PA.   +9 more
europepmc   +2 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

Comparison of the effect of existential therapy and acceptance and commitment therapy on death anxiety, peak experiences and mental health of patients with charcot marie tooth [PDF]

مجله علوم روانشناختی, 2023
Background: Charcot Marie Tooth (CMT) is a genetic disease in which peripheral nerves are damaged, also known as hereditary sensory and motor neuropathy.
seyedeh asghar faghani tolon, morteza golestani pour, seyedeh zahra sadati   +2 more
doaj