Congenital hypomyelinating neuropathy

Known as: NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL RECESSIVE, CMT4E, Hypomyelination, severe congenital 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1985-2018
05101519852018

Papers overview

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2011
2011
Congenital hypomyelinating neuropathy (CHN) is a severe inherited neuropathy with neonatal or early infancy onset, reduced nerve… (More)
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2010
2010
We report two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion… (More)
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Highly Cited
2005
Highly Cited
2005
Egr2 is a transcription factor required for peripheral nerve myelination in rodents, and mutations in Egr2 are associated with… (More)
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2003
2003
An eleven-month-old baby born out of non-consanguineous parentage presented with history of delayed motor milestones. The… (More)
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2002
2002
A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by peripheral neuropathy and central dysmyelination has… (More)
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1999
1999
A newly developed interface coupling a CHN combustion device (elemental analyser 'EA') to an isotope ratio mass spectrometer is… (More)
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Highly Cited
1998
Highly Cited
1998
The early growth response 2 gene (EGR2) is part of a multigene family encoding Cys2His2 type zinc-finger proteins and may play a… (More)
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Review
1997
Review
1997
A boy was born at 39 weeks gestation with severe weakness and hypotonia, fractured femurs, poor suck and swallow, and absent deep… (More)
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Highly Cited
1996
Highly Cited
1996
The specific chromosomal translocation t(9;22)(q22-31;q11-12) has been observed in the myxoid variant of human chondrosarcoma. In… (More)
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Review
1985
Review
1985
Two patients with congenital hypomyelinating neuropathy are reported with details of sural nerve pathology. The resemblance of… (More)
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