Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis. (Q34044153)

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31 October 2019

review article

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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

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3

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31 October 2019

author name string

R A Lewis

series ordinal

1

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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

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31 October 2019

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31 October 2019

volume

23

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31 October 2019

issue

10

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31 October 2019

page(s)

1472-1487

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Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies

31 October 2019

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

21 January 2018

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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

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Dominantly inherited hypertrophic neuropathy

21 January 2018

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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

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

21 January 2018

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

21 January 2018

1 reference

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Effects of PMP22 duplication and deletions on the axonal cytoskeleton

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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Neuropathology and genetics of Pelizaeus-Merzbacher disease

21 January 2018

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Conduction block in hereditary neuropathy with susceptibility to pressure palsies

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

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

21 January 2018

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

21 January 2018

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Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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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