(Q37329508)

19 August 2017

1 reference

title

Experimental therapeutics in hereditary neuropathies: the past, the present, and the future (English)

1 reference

19 August 2017

David N Herrmann

1

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19 August 2017

1 October 2008

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19 August 2017

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19 August 2017

5

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19 August 2017

4

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19 August 2017

507-515

1 reference

https://scigraph.springernature.com/pub.10.1016/j.nurt.2008.07.001

19 August 2017

0 references

cites work

Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy

1 reference

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Brothers in arms: DNA enzymes, short interfering RNA, and the emerging wave of small-molecule nucleic acid-based gene-silencing strategies.

6 September 2017

1 reference

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Modulating the expression of disease genes with RNA-based therapy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Rehabilitation interventions for foot drop in neuromuscular disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: a case series

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Conducting research in individual patients: lessons learnt from two series of N-of-1 trials

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Congo red and protein aggregation in neurodegenerative diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Inhibition of protein misfolding and aggregation by small rationally-designed peptides

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

The dominantly inherited motor and sensory neuropathies: clinical and molecular advances

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Genetic medicine at the RNA level: modifications of the genetic repertoire for therapeutic purposes by pre-mRNA trans-splicing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Morpholino phosphorodiamidate oligonucleotides in zebrafish: a recipe for functional genomics?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Phenotypic clustering in MPZ mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Ascorbic acid inhibits PMP22 expression by reducing cAMP levels.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Therapeutic strategies for the inherited neuropathies.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Combining single patient (N-of-1) trials to estimate population treatment effects and to evaluate individual patient responses to treatment.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Double-blind controlled trials of Cronassial in chronic neuromuscular diseases and ataxia.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Night splinting does not increase ankle range of motion in people with Charcot-Marie-Tooth disease: a randomised, cross-over trial.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Evidence for macrophage-mediated myelin disruption in an animal model for Charcot-Marie-Tooth neuropathy type 1A.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Coexistent hereditary and inflammatory neuropathy

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4514696

Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.NURT.2008.07.001

A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): The study protocol [EudraCT no.: 2006-000032-27]

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.NURT.2008.07.001

Skipping toward personalized molecular medicine

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

136th ENMC International Workshop: Charcot-Marie-Tooth disease type 1A (CMT1A)8-10 April 2005, Naarden, The Netherlands

1 reference

12 December 2020

Triple arthrodesis: twenty-five and forty-four-year average follow-up of the same patients

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

Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression

1 reference

12 December 2020

Dietary essential fatty acids, vitamin E, and Charcot-Marie-Tooth disease

1 reference

12 December 2020

Two successful double-blind trials with coenzyme Q10 (vitamin Q10) on muscular dystrophies and neurogenic atrophies

1 reference

12 December 2020

Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B

1 reference

12 December 2020

Experimental Charcot–Marie–Tooth type 1A: A cDNA microarrays analysis

1 reference

12 December 2020

NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients

1 reference

12 December 2020

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

12 December 2020

Intensive evaluation of referred unclassified neuropathies yields improved diagnosis

1 reference

12 December 2020

CMT1X phenotypes represent loss of GJB1 gene function

1 reference

12 December 2020

Long-term results of triple arthrodesis in Charcot-Marie-Tooth disease

1 reference

12 December 2020

Prednisone-responsive hereditary motor and sensory neuropathy

1 reference

12 December 2020

10.1016/J.NURT.2008.07.001

Identifiers

DOI

1 reference

PMC publication ID

4514696

Dimensions Publication ID

19 August 2017

0 references

1 reference

PMC publication ID

4514696

19 August 2017

PubMed publication ID

19019301

1 reference

PMC publication ID

4514696