Results 1 to 10 of about 13,655 (181)

Charcot–Marie–Tooth Disease

open access: yesJournal 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   +4 more sources

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

open access: yesNeural 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]

open access: yesSleep 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   +7 more
doaj   +1 more source

Charcot–Marie–Tooth disease [PDF]

open access: yesEuropean 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

open access: yesEgyptian 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   +4 more
doaj   +1 more source

Update on Charcot-Marie-Tooth Disease [PDF]

open access: yesCurrent Neurology and Neuroscience Reports, 2010
Charcot-Marie-Tooth disease (CMT) disease encompasses a genetically heterogeneous group of inherited neuropathies, also known as hereditary motor and sensory neuropathies. CMT results from mutations in more than 40 genes expressed in Schwann cells and neurons causing overlapping phenotypes.
Agnes, Patzkó, Michael E, Shy
openaire   +4 more sources

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

open access: yesNeural 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   +7 more
doaj   +1 more source

Diagnosis of Charcot‐Marie‐Tooth Disease [PDF]

open access: yesBioMed Research International, 2009
Charcot‐Marie‐Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission.
Banchs, Isabel   +7 more
openaire   +3 more sources

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

open access: yesIranian 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   +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]

open access: yesمجله 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   +2 more
doaj  

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