(Q33787282)

29 July 2017

1 reference

title

Overview of hereditary neuropathy with liability to pressure palsies (English)

1 reference

hereditary neuropathy with liability to pressure palsies

29 July 2017

0 references

author name string

Chance PF

series ordinal

1

1 reference

PubMed ID

10586225

29 July 2017

language of work or name

English

0 references

publication date

1 September 1999

1 reference

Annals of the New York Academy of Sciences

29 July 2017

1 reference

29 July 2017

883

1 reference

29 July 2017

14-21

1 reference

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

29 July 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

Sex-dependent rearrangements resulting in CMT1A and HNPP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

A growth arrest-specific (gas) gene codes for a membrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

Trembler mouse carries a point mutation in a myelin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

A myelin protein is encoded by the homologue of a growth arrest-specific gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

Recurrent brachial plexus neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

Natural history of brachial plexus neuropathy. Report on 99 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

Recurrent familial brachial plexus palsies as the only clinical expression of 'tomaculous' neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08562.X

10.1111/J.1749-6632.1999.TB08562.X

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference