(Q34044153)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11003782%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

review article

1 reference

title

Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis (English)

1 reference

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31 October 2019

1 reference

3

1 reference

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31 October 2019

author name string

R A Lewis

series ordinal

1

1 reference

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31 October 2019

A J Sumner

series ordinal

2

1 reference

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31 October 2019

publication date

1 October 2000

1 reference

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31 October 2019

1 reference

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31 October 2019

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11003782%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

page(s)

1472-1487

1 reference

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31 October 2019

issue

10

1 reference

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Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies

31 October 2019

cites work

1 reference

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Gap junctions: new tools, new answers, new questions

21 January 2018

1 reference

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Connexin mutations in X-linked Charcot-Marie-Tooth disease

21 January 2018

1 reference

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X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

21 January 2018

1 reference

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Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

21 January 2018

1 reference

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Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia

21 January 2018

1 reference

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Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

21 January 2018

1 reference

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The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

21 January 2018

1 reference

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Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

21 January 2018

1 reference

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X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

21 January 2018

1 reference

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Proteolipid protein is necessary in peripheral as well as central myelin.

21 January 2018

1 reference

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Current concepts of PLP and its role in the nervous system.

21 January 2018

1 reference

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Expression of the proteolipid protein gene in glial cells of the post-natal peripheral nervous system of rodents

21 January 2018

1 reference

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Congenital hypomyelination polyneuropathy. Pathological findings compared with polyneuropathies starting later in life.

21 January 2018

1 reference

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Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease.

21 January 2018

1 reference

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X-linked dominant hereditary motor and sensory neuropathy

21 January 2018

1 reference

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From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins

21 January 2018

1 reference

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De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

21 January 2018

1 reference

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Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics

21 January 2018

1 reference

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F-wave velocity in the central segment of the median and ulnar nerves. A study in normal subjects and in patients with Charcot-Marie-Tooth disease.

21 January 2018

1 reference

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Proteolipid protein: is it more than just a structural component of myelin?

21 January 2018

1 reference

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Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

21 January 2018

1 reference

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Acquired versus familial demyelinative neuropathies in children.

21 January 2018

1 reference

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Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses

21 January 2018

1 reference

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Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.

21 January 2018

1 reference

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Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis

21 January 2018

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A computer simulation of conduction block: effects produced by actual block versus interphase cancellation

21 January 2018

1 reference

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Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

21 January 2018

1 reference

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Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1.

21 January 2018

1 reference

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Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts.

21 January 2018

1 reference

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Molecular genetics of demyelination: new wrinkles on an old membrane

21 January 2018

1 reference

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Molecular specializations at nodes and paranodes in peripheral nerve

21 January 2018

1 reference

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Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin

21 January 2018

1 reference

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NAB2, a corepressor of NGFI-A (Egr-1) and Krox20, is induced by proliferative and differentiative stimuli

21 January 2018

1 reference

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The phenotypic manifestations of chromosome 17p11.2 duplication.

21 January 2018

1 reference

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Krox-20 controls myelination in the peripheral nervous system

21 January 2018

1 reference

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Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

21 January 2018

1 reference

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Molecular biology and genetics of gap junction channels

21 January 2018

1 reference

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Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

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Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

21 January 2018

1 reference

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Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

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A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

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Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

21 January 2018

1 reference

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Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2.

21 January 2018

1 reference

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The electrophysiologic profile of Dejerine-Sottas disease (HMSN III)

21 January 2018

1 reference

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The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I

21 January 2018

1 reference

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Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study

21 January 2018

1 reference

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Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study

21 January 2018

1 reference

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DNA deletion associated with hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

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Prevalence of hereditary motor and sensory neuropathy in Cantabria

21 January 2018

1 reference

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Conduction block in clinical practice

21 January 2018

1 reference

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Hereditary pressure-sensitive neuropathy

21 January 2018

1 reference

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Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1

21 January 2018

1 reference

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X-linked neuropathy: gene localization with DNA probes

21 January 2018

1 reference

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Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

21 January 2018

1 reference

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Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study

21 January 2018

1 reference

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Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication

21 January 2018

1 reference

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Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion

21 January 2018

1 reference

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Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease

21 January 2018

1 reference

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Evolution of nerve conduction abnormalities in children with dominant hypertrophic neuropathy of the Charcot-Marie-Tooth type

21 January 2018

1 reference

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The clinical features of hereditary motor and sensory neuropathy types I and II

21 January 2018

1 reference

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Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype

21 January 2018

1 reference

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Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a)

21 January 2018

1 reference

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Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene

21 January 2018

1 reference

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Distal accentuation of conduction slowing in polyneuropathy associated with antibodies to myelin-associated glycoprotein and sulphated glucuronyl paragloboside

21 January 2018

1 reference

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Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1

21 January 2018

1 reference

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Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17

21 January 2018

1 reference

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Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy

21 January 2018

1 reference

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Charcot-Marie-Tooth disease type 1A presenting as calf hypertrophy and muscle cramps

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Electrodiagnostic findings in CMTX: a disorder of the Schwann cell and peripheral nerve myelin

21 January 2018

1 reference

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The electrodiagnostic distinctions between chronic familial and acquired demyelinative neuropathies

21 January 2018

1 reference

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Long-lasting conduction block in hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

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Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Dominantly inherited hypertrophic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1

21 January 2018

1 reference

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Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families

21 January 2018

1 reference

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Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies

21 January 2018

1 reference

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Heterozygous Null Mutation in the P0 Gene Associated with Mild Charcot-Marie-Tooth Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Hereditary motor and sensory neuropathy, X-linked: a half century follow-up

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Effects of PMP22 duplication and deletions on the axonal cytoskeleton

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Correlation between PMP-22 messenger mRNA expression and phenotype in hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Neuropathology and genetics of Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Conduction block in hereditary neuropathy with susceptibility to pressure palsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Ultrastructural protein zero expression in Charcot-Marie-Tooth type 1B disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200010%2923%3A10%3C1472%3A%3AAID-MUS3%3E3.0.CO%3B2-%23

10.1002/1097-4598(200010)23:10<1472::AID-MUS3>3.0.CO;2-#

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11003782%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference