Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations (Q34327017)

1 August 2017

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations (English)

1 reference

Gabriel Miltenberger-Miltényi

1 August 2017

1

Gabriel Miltenberger-Miltenyi

0 references

Michaela Auer-Grumbach

12

Michaela Auer-Grumbach

0 references

Andreas Janecke

13

Andreas R Janecke

1 reference

1 August 2017

Thomas Schwarzbraun

2

0 references

Wolfgang Löscher

Wolfgang N Löscher

3

0 references

author name string

Julia Wanschitz

4

1 reference

1 August 2017

Christian Windpassinger

5

1 reference

1 August 2017

Hans-Christoph Duba

6

1 reference

1 August 2017

Rainer Seidl

7

1 reference

1 August 2017

Gerhard Albrecht

8

1 reference

1 August 2017

Helga Weirich-Schwaiger

9

1 reference

1 August 2017

Heinz Zoller

10

1 reference

1 August 2017

Gerd Utermann

11

1 reference

1 August 2017

4 March 2009

1 reference

European Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

17

1 reference

1 August 2017

9

1 reference

1 August 2017

1154-1159

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.29

1 August 2017

0 references

cites work

PANTHER version 6: protein sequence and function evolution data with expanded representation of biological pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

Peripheral neuropathies caused by mutations in the myelin protein zero

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

Phenotypic clustering in MPZ mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

Connexin32 and X-linked Charcot-Marie-Tooth disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.29

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.29

Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.29

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986587

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

27 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.29

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients

21 January 2018

1 reference

12 December 2020

The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification

1 reference

12 December 2020

The clinical features of hereditary motor and sensory neuropathy types I and II

1 reference

12 December 2020

Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17

1 reference

12 December 2020

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

1 reference

12 December 2020

New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.29

1 reference

1 August 2017

1 reference

1 August 2017

1 reference