(Q74639392)

English

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

scientific article published on 01 December 1998

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10093067%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10093067%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

hereditary neuropathy with liability to pressure palsies

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1 reference

based on heuristic

inferred from title

publication date

1 December 1998

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10093067%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Neuromuscular Disorders

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10093067%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10093067%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10093067%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

591-603

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10093067%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Low affinity NGF receptor expression in CMT1A nerve biopsies of different disease stages.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

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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/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

The new genetics in clinical practice

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations of the same sequence of the myelin P0 gene causing two different phenotypes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a novel PAX6 gene mutation in an aniridia patient

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

New mutations in the X-linked form of Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900067-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(98)00067-4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10093067%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10093067%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

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