(Q34113736)

31 July 2017

title

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan (English)

1 reference

Charcot-Marie-Tooth disease type 2

31 July 2017

main subject

1 reference

Chih-Chao Yang

3

0 references

Yi-Chung Lee

object named as

Yi-Chung Lee

8

0 references

Anthony Antonellis

7

object named as

Anthony Antonellis

1 reference

31 July 2017

Kon-Ping Lin

1

1 reference

31 July 2017

Bing-Wen Soong

2

1 reference

31 July 2017

Li-Wen Huang

4

1 reference

31 July 2017

Ming-Hong Chang

5

1 reference

31 July 2017

I-Hui Lee

6

1 reference

31 July 2017

language of work or name

English

0 references

publication date

19 December 2011

1 reference

31 July 2017

1 reference

31 July 2017

volume

6

1 reference

31 July 2017

issue

12

1 reference

31 July 2017

page(s)

e29393

1 reference

Creative Commons Attribution 4.0 International

31 July 2017

copyright license

start time

19 December 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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MFN2 mutations cause severe phenotypes in most patients with CMT2A.

5 July 2018

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Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

5 July 2018

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Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

5 July 2018

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Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy

5 July 2018

1 reference

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A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242783

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

5 July 2018

1 reference

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Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

5 July 2018

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Clustal W and Clustal X version 2.0

5 July 2018

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Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase

5 July 2018

1 reference

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Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

5 July 2018

1 reference

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Some like it hot: the structure and function of small heat-shock proteins.

5 July 2018

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Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease

5 July 2018

1 reference

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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

5 July 2018

1 reference

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Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

5 July 2018

1 reference

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Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

5 July 2018

1 reference

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Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

5 July 2018

1 reference

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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242783

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

5 July 2018

1 reference

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Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242783

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

5 July 2018

1 reference

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Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242783

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242783

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242783

Hsp27 negatively regulates cell death by interacting with cytochrome c.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242783

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242783

Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242783

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242783

Human hsp27, Drosophila hsp27 and human alphaB-crystallin expression-mediated increase in glutathione is essential for the protective activity of these proteins against TNFalpha-induced cell death

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242783

The CpG dinucleotide and human genetic disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242783

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

5 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029393

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029393

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029393

Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029393

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029393

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029393

Reliability and validity of the CMT neuropathy score as a measure of disability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029393

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029393

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242783

Modulation of actin microfilament dynamics and fluid phase pinocytosis by phosphorylation of heat shock protein 27.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3242783

Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease

28 October 2018

1 reference

12 December 2020

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

1 reference

12 December 2020

Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype

1 reference

12 December 2020

2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 19

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0029393

Identifiers

DOI

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31 July 2017

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31 July 2017

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