Charcot-Marie-Tooth disease, X-linked, 1

Known as: HMSN, X-LINKED, CMTX1, HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED 
Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction… (More)
National Institutes of Health

Papers overview

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Review
2006
Review
2006
Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of disorders sharing the same clinical phenotype… (More)
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Highly Cited
2003
Highly Cited
2003
X-linked Charcot-Marie-Tooth disease (CMTX) is the second most common form of inherited demyelinating neuropathy, next to CMT… (More)
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Highly Cited
2002
Highly Cited
2002
X-linked Charcot-Marie-Tooth disease (CMTX) is a hereditary demyelinating neuropathy caused by mutations in the connexin 32 (Cx32… (More)
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Highly Cited
2001
Highly Cited
2001
Mutations in SOX10, a transcription modulator crucial in the development of the enteric nervous system (ENS), melanocytes and… (More)
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2000
2000
Mutations in the connexin 32 gene (Cx 32) are associated with the x-linked form of Charcot-Marie-Tooth disease (CMTX) and… (More)
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2000
2000
X-linked Charcot-Marie-Tooth disease (CMTX) is the second most common form of Charcot-Marie-Tooth disease. Variable… (More)
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Highly Cited
1997
Highly Cited
1997
The relationship between the loss of connexin 32 function and clinical manifestations of X-linked Charcot-Marie-Tooth (CMTX… (More)
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1994
1994
The X-linked form of Charcot-Marie-Tooth disease (CMTX) is associated with mutations in the gene encoding connexin32, a member of… (More)
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Highly Cited
1993
Highly Cited
1993
X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was… (More)
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Highly Cited
1993
Highly Cited
1993
Three genetic loci for the Charcot-Marie-Tooth (CMT) syndromes with slow motor nerve conduction velocities (hereditary motor and… (More)
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