Charcot-Marie-Tooth Disease, Type Ib

Known as: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B, Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy, Hereditary Motor and Sensory Neuropathy 1B 
Charcot-Marie-Tooth disease caused by mutations in the MPZ gene (mapped to chromosome 1q23.3). It results in sensorineural peripheral neuropathy.
National Institutes of Health

Papers overview

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2013
2013
P0 glycoprotein is an abundant product of terminal differentiation in myelinating Schwann cells. The mutant P0S63del causes… (More)
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Highly Cited
2004
Highly Cited
2004
Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs. Aberrations of regulation of Wnt signaling… (More)
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Review
2004
Review
2004
A wealth of information has recently become available on the molecular signals that are required to form and pattern the… (More)
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Highly Cited
2002
Highly Cited
2002
The Charcot-Marie-Tooth (CMT) disorders comprise a group of clinically and genetically heterogeneous hereditary motor and sensory… (More)
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Highly Cited
2000
Highly Cited
2000
A Dutch family with tooth agenesis and various combinations of cleft palate only and cleft lip and cleft palate showed a nonsense… (More)
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Highly Cited
1998
Highly Cited
1998
Charcot-Marie-Tooth disease (CMT), or hereditary motor and sensory neuropathy (HMSN), is a clinically and genetically… (More)
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Highly Cited
1997
Highly Cited
1997
Vertebrate organogenesis is initiated at sites that are often morphologically indistinguishable from the surrounding region. Here… (More)
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Highly Cited
1996
Highly Cited
1996
We demonstrate that a mutation in the homeobox gene, MSX1, causes a common developmental anomaly, familial tooth agenesis… (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
P0, a major structural protein of peripheral myelin, is a homophilic adhesion molecule and maps to chromosome 1q22–q23, in the… (More)
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