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Charcot-Marie-Tooth Disease

Known as: Charcot Marie Tooth Hereditary Neuropathy, Atrophy, Peroneal Muscular, Charcot Marie Disease 
A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and… 
National Institutes of Health

Related topics

Related topics

50 relations
31 ML Vincristine sulfate liposome 0.16 MG/ML InjectionDegenerative Nerve DiseasesEarly Growth Response Protein 2Hereditary peripheral neuropathy

Narrower (32)

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2KCHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)

Broader (2)

Hereditary Motor and Sensory NeuropathiesMuscular Atrophy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2009
Highly Cited
2009
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have… 
Review
2007
Review
2007
Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies
DNA diagnostics plays an important role in the characterization and management of patients manifesting inherited peripheal… 
Review
2006
Review
2006
Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of disorders and is the most common… 
Highly Cited
2001
Highly Cited
2001
Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth 1A duplication.
BACKGROUND A 1.5-Mb microduplication containing the gene for peripheral myelin protein 22 (PMP22) on chromosome 17p11.2-12 is… 
Review
1999
Review
1999
Charcot–Marie–Tooth disease and related neuropathies: Molecular basis for distinction and diagnosis
Great advances have been made in understanding the molecular basis of Charcot‐Marie‐Tooth disease (CMT) and related neuropathies… 
Highly Cited
1998
Highly Cited
1998
Connexin32 Mutations Associated with X-Linked Charcot–Marie–Tooth Disease Show Two Distinct Behaviors: Loss of Function and Altered Gating Properties
The X-linked form of Charcot–Marie–Tooth disease (CMTX) is associated with mutations in the gene encoding connexin32 (Cx32… 
Review
1994
Review
1994
Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.
Collectively, the inherited disorders of peripheral nerves represent a common group of neurologic diseases. Charcot-Marie-Tooth… 
Highly Cited
1993
Highly Cited
1993
Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.
A 1.5 Mb duplication within 17p11.2 is the major mutation causing both autosomal dominant and sporadic Charcot-Marie-Tooth… 
Highly Cited
1985
Highly Cited
1985
Sensory, Motor, and Autonomic Neuropathy in Patients with Multiple Symmetric Lipomatosis
Clinical evaluation of 33 male patients affected by multiple symmetric lipomatosis has revealed a previously unreported high… 
Highly Cited
1971
Highly Cited
1971
Electromyography of the masseter and anterior temporalis muscles in patients with temporomandibular dysfunction.
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