(Q73586503)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734269%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734269%20AND%20SRC:MED&resulttype=core&format=json

hereditary neuropathy with liability to pressure palsies

5 November 2019

main subject

0 references

author name string

O Dubourg

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734269%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

P Mouton

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734269%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

A Brice

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734269%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

E LeGuern

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734269%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

P Bouche

5

1 reference

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5 November 2019

publication date

1 March 2000

1 reference

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5 November 2019

published in

Neuromuscular Disorders

1 reference

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5 November 2019

volume

10

1 reference

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5 November 2019

issue

3

1 reference

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5 November 2019

page(s)

206-208

1 reference

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Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders

5 November 2019

cites work

1 reference

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7 January 2021

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation

1 reference

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7 January 2021

Hereditary neuropathy with liability to pressure palsies: a clinical, electroneurophysiological and morphological study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

PMP-22 gene duplications and deletions identified in archival, paraffin-embedded sural nerve biopsy specimens: correlation to structural changes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. The French CMT Collaborative Research Group

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

Sex-dependent rearrangements resulting in CMT1A and HNPP.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

Ultrastructural PMP22 expression in inherited demyelinating neuropathies

1 reference

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7 January 2021

Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies

1 reference

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7 January 2021

Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

Clinical, genetic and electrophysiologic correlation in hereditary neuropathy with liability to pressure palsies with involvement of PMP22 gene at chromosome 17p11.2

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900103-0

7 January 2021

3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands

1 reference

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7 January 2021

10.1016/S0960-8966(99)00103-0

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734269%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference