(Q36937164)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080241%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Update on Charcot-Marie-Tooth disease (English)

1 reference

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16 January 2020

2

1 reference

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16 January 2020

author name string

Agnes Patzkó

series ordinal

1

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16 January 2020

publication date

1 February 2011

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080241%20AND%20SRC:MED&resulttype=core&format=json

Current Neurology and Neuroscience Reports

16 January 2020

published in

1 reference

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16 January 2020

volume

11

1 reference

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16 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080241%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

page(s)

78-88

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080241%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s11910-010-0158-7

16 January 2020

exact match

0 references

cites work

MFN2 mutations cause severe phenotypes in most patients with CMT2A.

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Charcot-Marie-Tooth disease subtypes and genetic testing strategies

29 September 2017

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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

29 September 2017

1 reference

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MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families

29 September 2017

1 reference

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

29 September 2017

1 reference

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SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

29 September 2017

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Mitofusin 2 tethers endoplasmic reticulum to mitochondria

29 September 2017

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Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy

29 September 2017

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Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

29 September 2017

1 reference

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Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy

29 September 2017

1 reference

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Unraveling the genetics of distal hereditary motor neuronopathies

29 September 2017

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Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

29 September 2017

1 reference

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Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease

29 September 2017

1 reference

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

29 September 2017

1 reference

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Disruption of fusion results in mitochondrial heterogeneity and dysfunction

29 September 2017

1 reference

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

29 September 2017

1 reference

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Recent applications of RNAi in mammalian systems

29 September 2017

1 reference

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Axonal neuregulin-1 regulates myelin sheath thickness

29 September 2017

1 reference

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Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease

29 September 2017

1 reference

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Phenotypic clustering in MPZ mutations

29 September 2017

1 reference

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

29 September 2017

1 reference

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Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

29 September 2017

1 reference

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

29 September 2017

1 reference

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The regulation of pubertal growth

29 September 2017

1 reference

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PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells

29 September 2017

1 reference

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Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

29 September 2017

1 reference

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Schwann cell-axon interactions in Charcot-Marie-Tooth disease

29 September 2017

1 reference

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Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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Differentiation of axon-related Schwann cells in vitro. I. Ascorbic acid regulates basal lamina assembly and myelin formation

29 September 2017

1 reference

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A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685483

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

29 September 2017

1 reference

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Trembler mouse carries a point mutation in a myelin gene

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685483

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685483

Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685483

The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685483

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685483

Cellular mechanisms of connexin32 mutations associated with CNS manifestations

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685483

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685483

Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685483

Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine,

4 December 2018

1 reference

12 December 2020

Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis

1 reference

12 December 2020

Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name

1 reference

12 December 2020

GDAP1 mutations in CMT4: axonal and demyelinating phenotypes?: The exception "proves the rule"

1 reference

12 December 2020

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

1 reference

12 December 2020

Neuropathy progression in Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Electrodiagnostic findings in CMTX: a disorder of the Schwann cell and peripheral nerve myelin

1 reference

12 December 2020

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

1 reference

12 December 2020

Treatment of stable chronic demyelinating polyneuropathy with 3,4-diaminopyridine

1 reference

12 December 2020

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

1 reference

12 December 2020

A transgenic rat model of Charcot-Marie-Tooth disease

1 reference

12 December 2020

Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice

1 reference

12 December 2020

CMT1X phenotypes represent loss of GJB1 gene function

1 reference

12 December 2020

10.1007/S11910-010-0158-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080241%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21080241%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

21080241

1 reference