Results 201 to 210 of about 49,167 (262)
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DNA duplication associated with Charcot-Marie-Tooth disease type 1A
Cell, 1991James R Lupski +2 more
exaly +2 more sources
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
New England Journal of Medicine, 2010 James R Lupski +2 more
exaly +2 more sources
Foot & Ankle Specialist, 2008
Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy constitutes a genetically heterogeneous group of diseases that affect the peripheral nervous system. CMT is characterized by degeneration or abnormal development of the peripheral nerve and is transmitted with different genetic patterns.
Carlos, Casasnovas +4 more
openaire +4 more sources
Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy constitutes a genetically heterogeneous group of diseases that affect the peripheral nervous system. CMT is characterized by degeneration or abnormal development of the peripheral nerve and is transmitted with different genetic patterns.
Carlos, Casasnovas +4 more
openaire +4 more sources
Journal of the Peripheral Nervous System, 2011
Charcot‐Marie‐Tooth (CMT) disease is the commonest inherited neuromuscular disorder affecting at least 1 in 2,500. Over the last two decades, there have been rapid advances in understanding the molecular basis for many forms of CMT with more than 30 causative genes now described.
Reilly, Mary M +2 more
openaire +4 more sources
Charcot‐Marie‐Tooth (CMT) disease is the commonest inherited neuromuscular disorder affecting at least 1 in 2,500. Over the last two decades, there have been rapid advances in understanding the molecular basis for many forms of CMT with more than 30 causative genes now described.
Reilly, Mary M +2 more
openaire +4 more sources
The Journal of Pediatrics, 1953
Summary A review of Charcot-Marie-Toothdisease is presented with illustrative cases. This condition can be differentiated from other neuromuscular conditions and diagnosed at a relatively early stage. It is self-limiting and surgery is of great help in restoring the affected individual to a more normal way of life.
R T, LIDGE, F A, CHANDLER
openaire +2 more sources
Summary A review of Charcot-Marie-Toothdisease is presented with illustrative cases. This condition can be differentiated from other neuromuscular conditions and diagnosed at a relatively early stage. It is self-limiting and surgery is of great help in restoring the affected individual to a more normal way of life.
R T, LIDGE, F A, CHANDLER
openaire +2 more sources
HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease
Brain, 2018 Patients with Charcot-Marie-Tooth disease with predominant axonal loss (CMT2) show extensive genetic heterogeneity. Benoy et al. demonstrate a link between CMT2 and histone deacetylase 6 (HDAC6), which controls the acetylation of α-tubulin, and propose ...
Veronick Benoy +2 more
exaly +2 more sources
Archives of Neurology, 1993
Charcot-Marie-Tooth syndrome (CMT) is a group of genetically determined symmetric distal polyneuropathies. The CMT loci are known to map to chromosome 1 (CMT1B), chromosome 17 (CMT1A), the X chromosome (CMTX), and two additional unknown autosomes (CMT1C and CMT2).
P F, Chance, D, Pleasure
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Charcot-Marie-Tooth syndrome (CMT) is a group of genetically determined symmetric distal polyneuropathies. The CMT loci are known to map to chromosome 1 (CMT1B), chromosome 17 (CMT1A), the X chromosome (CMTX), and two additional unknown autosomes (CMT1C and CMT2).
P F, Chance, D, Pleasure
openaire +2 more sources
European Journal of Neurology, 2021
Charcot–Marie–Tooth (CMT) disease, an untreatable hereditary polyneuropathy, may mimic chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), a treatable neuropathy.
Fabien Hauw +23 more
semanticscholar +1 more source
Charcot–Marie–Tooth (CMT) disease, an untreatable hereditary polyneuropathy, may mimic chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), a treatable neuropathy.
Fabien Hauw +23 more
semanticscholar +1 more source
Foot and Ankle Clinics, 2023
Abstract Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disease and presents many potential considerations for the administration of anesthesia. Type 1 CMT (CMT1) is the most common, of which 70% of cases are CMT1A.
Glenn B. Pfeffer, Max P. Michalski
openaire +2 more sources
Abstract Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disease and presents many potential considerations for the administration of anesthesia. Type 1 CMT (CMT1) is the most common, of which 70% of cases are CMT1A.
Glenn B. Pfeffer, Max P. Michalski
openaire +2 more sources
Archives of Neurology, 1967
THE credit for discovering a "new disease" is often given not to the one who describes it first but to the one who describes it when the time is ripe. Thus, Virchow,1Schultze,2and others had reported cases of peroneal atrophy previously, but in 1886 medical knowledge had advanced sufficiently to accept this entity as a nosologic addition.
L A, Brody, R H, Wilkins
openaire +2 more sources
THE credit for discovering a "new disease" is often given not to the one who describes it first but to the one who describes it when the time is ripe. Thus, Virchow,1Schultze,2and others had reported cases of peroneal atrophy previously, but in 1886 medical knowledge had advanced sufficiently to accept this entity as a nosologic addition.
L A, Brody, R H, Wilkins
openaire +2 more sources