Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy (Q33620795)

28 July 2017

title

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy (English)

1 reference

Distal hereditary motor neuropathies

28 July 2017

main subject

1 reference

Philip Van Damme

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Diether Lambrechts

1 reference

28 July 2017

Wim Robberecht

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28 July 2017

Peter De Jonghe

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28 July 2017

Valérie Race

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28 July 2017

Gert Matthijs

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28 July 2017

Hui Zhao

1 reference

28 July 2017

publication date

9 October 2013

1 reference

European Journal of Human Genetics

28 July 2017

published in

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28 July 2017

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28 July 2017

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28 July 2017

page(s)

847-850

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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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Defective presynaptic choline transport underlies hereditary motor neuropathy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Charcot-Marie-Tooth disease and related genetic neuropathies.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Exome sequencing: dual role as a discovery and diagnostic tool

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

The distal hereditary motor neuropathies.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

VPS35 mutations in Parkinson disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Dindel: accurate indel calls from short-read data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Fast and accurate long-read alignment with Burrows-Wheeler transform

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

HINT1 inhibits beta-catenin/TCF4, USF2 and NFkappaB activity in human hepatoma cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Charcot-Marie-Tooth disease: a clinico-genetic confrontation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Molecular genetics of distal hereditary motor neuropathies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Neuromyotonia in hereditary motor neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023208

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

21 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.231

Hint1 is a haplo-insufficient tumor suppressor in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.231

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.231

Genome and exome sequencing in the clinic: unbiased genomic approaches with a high diagnostic yield

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.231

The 2012 version of the gene table of monogenic neuromuscular disorders

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24105373

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.231

1 reference

28 July 2017

1 reference

28 July 2017

1 reference