hereditary neuropathy

Known as: Inherited Neuropathy, neuropathy hereditary, inherited neuropathies 
A hereditary disorder that affects the sensory and/or motor nerves or the autonomic nerves.
National Institutes of Health

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Nervous system structurePeripheral Nerves

Papers overview

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Highly Cited
2010
Highly Cited
2010
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.
HSAN1 is an inherited neuropathy found to be associated with several missense mutations in the SPTLC1 subunit of serine… (More)
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Highly Cited
2004
Highly Cited
2004
Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.
Although the physiological basis of erythermalgia, an autosomal dominant painful neuropathy characterized by redness of the skin… (More)
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Review
2003
Review
2003
Disease mechanisms in inherited neuropathies
Inherited neuropathies are caused by dominant or recessive mutations in genes that are expressed by neurons and/or Schwann cells… (More)
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Review
2002
Review
2002
Hereditary motor and sensory neuropathies: a biological perspective
Mutations in genes expressed in Schwann cells and the axons they ensheath cause the hereditary motor and sensory neuropathies… (More)
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Highly Cited
1999
Highly Cited
1999
[Leber's hereditary optic neuropathy].
BACKGROUND Leber's hereditary neuropathy of the optic nerve (LHON) is manifested by bilateral affection of the eyes with acute or… (More)
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Highly Cited
1996
Highly Cited
1996
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with liability to pressure… (More)
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Highly Cited
1996
Highly Cited
1996
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
The Charcot-Marie Tooth disease type 1A (CMT1 A) duplication and hereditary neuropathy with liability to pressure palsies (HNPP… (More)
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Highly Cited
1995
Highly Cited
1995
Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice
Peripheral myelin protein PMP22 has been suggested to have a role in peripheral nerve myelination and cell proliferation. Defects… (More)
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Highly Cited
1994
Highly Cited
1994
A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies
Hereditary neuropathy with liability to pressure palsies (HNPP) has been a associated with a deletion of 1.5 megabases of… (More)
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Highly Cited
1993
Highly Cited
1993
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder that causes episodes of focal… (More)
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