(Q74127882)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452099%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452099%20AND%20SRC:MED&resulttype=core&format=json

Charcot-Marie-Tooth disease type 1

9 November 2019

main subject

1 reference

E Sorour

1

1 reference

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9 November 2019

M Upadhyaya

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452099%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 January 1998

1 reference

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9 November 2019

1 reference

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9 November 2019

volume

Suppl 1

1 reference

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9 November 2019

page(s)

S242-7

1 reference

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Identification of a novel PAX6 gene mutation in an aniridia patient

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Mutation of the myelin Po gene in Charcot — Marie — Tooth neuropathy type 1B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Mutation of the Myelin Po Gene in Charcot-Marie-Tooth Neuropathy Type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

New point mutations and deletions of the connexin 32 gene in x-linked charcot-marie-tooth neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Mutations in demyelinating peripheral neuropathies support molecular model of myelin P0-glycoprotein extracellular domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

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/10.1002%2FHUMU.1380110178

7 January 2021

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

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/10.1002%2FHUMU.1380110178

7 January 2021

X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Myelin genes: getting the dosage right

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Novel mutation of the myelin P0 gene in a CMT1B family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110178

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380110178

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452099%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference