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… (More)
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
BACKGROUND Whole-genome sequencing may revolutionize medical diagnostics through rapid identification of alleles that cause… (More)
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Review
2009
Review
2009
Charcot-Marie-Tooth disease is the most common inherited neuromuscular disorder. There have been substantial advances in… (More)
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Highly Cited
2007
Highly Cited
2007
Mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) are the most commonly identified cause of Charcot-Marie-Tooth… (More)
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Highly Cited
2006
Highly Cited
2006
Mutations in the mitofusin 2 (MFN2) gene, which encodes a mitochondrial GTPase mitofusin protein, have recently been reported to… (More)
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Highly Cited
2004
Highly Cited
2004
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromuscular disease and is characterized by considerable… (More)
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Highly Cited
2003
Highly Cited
2003
Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies… (More)
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Highly Cited
2002
Highly Cited
2002
We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral… (More)
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Highly Cited
2002
Highly Cited
2002
Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous disorder that has been associated with alterations of several… (More)
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Highly Cited
2001
Highly Cited
2001
The kinesin superfamily motor protein KIF1B has been shown to transport mitochondria. Here, we describe an isoform of KIF1B… (More)
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Review
1997
Review
1997
Mutations in the gap junction gene connexin32 (Cx32) cause the X-linked form of Charcot-Marie-Tooth disease, an inherited… (More)
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