(Q38201741)

30 August 2017

title

Charcot-Marie-Tooth disease and pathways to molecular based therapies (English)

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30 August 2017

T Harel

1

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30 August 2017

J R Lupski

series ordinal

2

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30 August 2017

publication date

9 May 2014

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30 August 2017

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30 August 2017

volume

86

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30 August 2017

issue

5

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30 August 2017

page(s)

422-431

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Practice Parameter: evaluation of distal symmetric polyneuropathy: role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodia

30 August 2017

cites work

1 reference

Inherited neuropathies: the interface between molecular genetics and pathology

21 January 2018

1 reference

Clinical implications of genetic advances in Charcot-Marie-Tooth disease

21 January 2018

1 reference

Inherited peripheral neuropathies.

21 January 2018

1 reference

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication

21 January 2018

1 reference

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

21 January 2018

1 reference

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

21 January 2018

1 reference

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

21 January 2018

1 reference

Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication

21 January 2018

1 reference

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

21 January 2018

1 reference

Phenotypic clustering in MPZ mutations

21 January 2018

1 reference

Mechanisms of disease: inherited demyelinating neuropathies--from basic to clinical research

21 January 2018

1 reference

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

21 January 2018

1 reference

Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

MFN2 mutations cause severe phenotypes in most patients with CMT2A.

21 January 2018

1 reference

Dissecting mitochondrial fusion

21 January 2018

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Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex

21 January 2018

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Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

21 January 2018

1 reference

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

21 January 2018

1 reference

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

21 January 2018

1 reference

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

21 January 2018

1 reference

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

21 January 2018

1 reference

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

21 January 2018

1 reference

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

21 January 2018

1 reference

X-linked dominant hereditary motor and sensory neuropathy

21 January 2018

1 reference

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

21 January 2018

1 reference

Functional gap junctions in the schwann cell myelin sheath

21 January 2018

1 reference

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

21 January 2018

1 reference

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)

21 January 2018

1 reference

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

21 January 2018

1 reference

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.

21 January 2018

1 reference

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

21 January 2018

1 reference

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

21 January 2018

1 reference

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

21 January 2018

1 reference

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

21 January 2018

1 reference

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene

21 January 2018

1 reference

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

21 January 2018

1 reference

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation

21 January 2018

1 reference

SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

21 January 2018

1 reference

Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination

21 January 2018

1 reference

Molecular basis of axonal dysfunction and traffic impairments in CMT.

21 January 2018

1 reference

TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.

21 January 2018

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Defective axonal transport of Rab7 GTPase results in dysregulated trophic signaling.

21 January 2018

1 reference

Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

21 January 2018

1 reference

To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations

21 January 2018

1 reference

Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease

21 January 2018

1 reference

Genetic testing practices for Charcot-Marie-Tooth type 1A disease.

21 January 2018

1 reference

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.

21 January 2018

1 reference

Coexistent hereditary and inflammatory neuropathy

21 January 2018

1 reference

Charcot-Marie-Tooth (CMT) disease 1A with superimposed inflammatory polyneuropathy in children

21 January 2018

1 reference

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

21 January 2018

1 reference

Ascorbic acid inhibits PMP22 expression by reducing cAMP levels.

21 January 2018

1 reference

Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

21 January 2018

1 reference

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.

21 January 2018

1 reference

Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial

21 January 2018

1 reference

Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial

21 January 2018

1 reference

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

21 January 2018

1 reference

Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A).

21 January 2018

1 reference

Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.

21 January 2018

1 reference

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

21 January 2018

1 reference

Curcumin facilitates a transitory cellular stress response in Trembler-J mice

21 January 2018

1 reference

Charcot-Marie-Tooth disease: emerging mechanisms and therapies.

21 January 2018

1 reference

Whither hope for pharmacological treatment of Charcot-Marie-Tooth disease type 1A?

21 January 2018

1 reference

AAV1.NT-3 gene therapy for charcot-marie-tooth neuropathy

21 January 2018

1 reference

Heterogeneity in the properties of NEFL mutants causing Charcot-Marie-Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol

21 January 2018

1 reference

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

21 January 2018

1 reference

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12393

1 reference

release_dq3ytz5kgbgffjs7rrwb4ggqnq

30 August 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/dq3ytz5kgbgffjs7rrwb4ggqnq

mapped directly with Wikidata item

24 November 2022

based on heuristic

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