CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D

Known as: Neuropathy, hereditary motor and sensory, LOM type, HMSN4D, HMSNL 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1984-2018
024619842018

Papers overview

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2017
2017
Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal-recessive demyelinating form of CMT characterized by a severe distal… (More)
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2013
2013
BACKGROUND Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with an increased risk of pediatric tumors. The… (More)
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2011
2011
CMT4D disease is a severe autosomal recessive demyelinating neuropathy with extensive axonal loss leading to early disability… (More)
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Highly Cited
2007
Highly Cited
2007
CONTEXT Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, dysmorphic features, and… (More)
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Highly Cited
2004
Highly Cited
2004
Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth disorder involving the deregulation of a number of genes, including IGF2… (More)
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2003
2003
In a previous study, we have shown that N-myc downstream-regulated gene 1 (NDRG1), classified in databases as a tumor suppressor… (More)
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Highly Cited
2002
Highly Cited
2002
NDRG1(N-Myc downstream regulated) is upregulated during cell differentiation, repressed by N-myc and c-myc in embryonic cells… (More)
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Highly Cited
2000
Highly Cited
2000
Hereditary motor and sensory neuropathies, to which Charcot-Marie-Tooth (CMT) disease belongs, are a common cause of disability… (More)
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2000
2000
The clinical, electrophysiological, pathological and genetic findings are described in the first Spanish family diagnosed with… (More)
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Highly Cited
1984
Highly Cited
1984
We examined two extensive families of protein sequences using four different alignment schemes that employ various degrees of… (More)
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