(Q74707514)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207933%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207933%20AND%20SRC:MED&resulttype=core&format=json

hereditary neuropathy with liability to pressure palsies

12 November 2019

main subject

0 references

author

Fons John Marie Gabreëls

5

object named as

F J M Gabreëls

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207933%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

author name string

R A C van de Wetering

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207933%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

A A W M Gabreëls-Festen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207933%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

V Timmerman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207933%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

G M Padberg

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207933%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

E C M Mariman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207933%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

publication date

1 October 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207933%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207933%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207933%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

issue

7-8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207933%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

651-655

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207933%20AND%20SRC:MED&resulttype=core&format=json

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

12 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

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%2802%2900025-1

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%2802%2900025-1

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%2802%2900025-1

7 January 2021

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

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%2802%2900025-1

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%2802%2900025-1

7 January 2021

A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

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

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

7 January 2021

Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

7 January 2021

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

7 January 2021

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

7 January 2021

Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

7 January 2021

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

7 January 2021

Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

7 January 2021

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

7 January 2021

Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

7 January 2021

Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

7 January 2021

Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

7 January 2021

Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900025-1

7 January 2021

10.1016/S0960-8966(02)00025-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12207933%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference