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PMP22 gene
Known as:
HNPP
, Peripheral Myelin Protein 22 Gene
, PERIPHERAL MYELIN PROTEIN 22
Â
(More)
This protein plays a role in the maintenance of myelin.
National Institutes of Health
Topic mentions per year
Topic mentions per year
1982-2017
0
20
40
1982
2017
Related topics
Related topics
5 relations
Hereditary liability to pressure palsies
Neurogenesis
PMP22 wt Allele
PXMP2 gene
(More)
Related mentions per year
Related mentions per year
1938-2018
1940
1960
1980
2000
2020
PMP22 gene
Neurogenesis
Hereditary liability to pressure palsies
Peripheral Myelin Protein 22
PXMP2 gene
PMP22 wt Allele
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2002
Highly Cited
2002
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Cornelius F. Boerkoel
,
Hiroshi Takashima
,
+13 authors
James R Lupski
Annals of neurology
2002
Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous disorder that has been associated with alterations of several…Â
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Is this relevant?
1999
1999
PMP22 accumulation in aggresomes: implications for CMT1A pathology.
Lucia Notterpek
,
M Cathryn Ryan
,
Andreas R Tobler
,
Eric M. Shooter
Neurobiology of disease
1999
Peripheral myelin protein 22 (PMP22) is a 22-kDa glycoprotein mainly expressed by Schwann cells (SCs). Duplication or deletion of…Â
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Is this relevant?
1997
1997
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies
Sylvia Bort
,
Elise A Nelis
,
+9 authors
Francesc Palau
Human Genetics
1997
Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsies (HNPP) are two inherited…Â
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Is this relevant?
Highly Cited
1996
Highly Cited
1996
Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage.
J. Magyar
,
R. Martini
,
+6 authors
Ueli Suter
The Journal of neuroscience : the official…
1996
An intrachromosomal duplication containing the PMP22 gene is associated with the human hereditary peripheral neuropathy Charcot…Â
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Is this relevant?
1996
1996
Ultrastructural PMP22 expression in inherited demyelinating neuropathies.
Jean-michel Vallat
,
Prof. Dr. M. Sindou
,
+5 authors
Abigail Brice
Annals of neurology
1996
Charcot-Marie-Tooth type 1A (CMT-1A) disease results from a duplication of the PMP22 gene on chromosome 17p11.2. A deletion of…Â
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Highly Cited
1995
Highly Cited
1995
Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice
Katrin Adlkofer
,
Rudolf Martini
,
Adriano Aguzzi
,
Jürgen Zielasek
,
Klaus Victor Toyka
,
Ueli Suter
Nature Genetics
1995
Peripheral myelin protein PMP22 has been suggested to have a role in peripheral nerve myelination and cell proliferation. Defects…Â
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1994
1994
A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies
Garth A. Nicholson
,
Linda J. Valentijn
,
+8 authors
Frank Baas
Nature Genetics
1994
Hereditary neuropathy with liability to pressure palsies (HNPP) has been a associated with a deletion of 1.5 megabases of…Â
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Highly Cited
1994
Highly Cited
1994
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
Phillip F. Chance
,
N. Abbas
,
+4 authors
James R Lupski
Human molecular genetics
1994
Charcot-Marie-Tooth disease type 1A (CMT1A) is a common autosomal dominant demyelinating neuropathy that is associated with a 1.5…Â
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Is this relevant?
Highly Cited
1993
Highly Cited
1993
DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
Phillip F. Chance
,
Marie Alderson
,
+7 authors
Thomas D. Bird
Cell
1993
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder that causes episodes of focal…Â
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Is this relevant?
1993
1993
Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
Benjamin B. Roa
,
Peter J. Dyck
,
Harold G. Marks
,
Phillip F. Chance
,
James R Lupski
Nature Genetics
1993
Dejerine–Sottas syndrome is a hypertrophic, demyelinating neuropathy which appears to demonstrate autosomal recessive inheritance…Â
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