(Q39875176)

15 September 2017

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease (English)

1 reference

15 September 2017

Emil Ylikallio

2

0 references

Henna Tyynismaa

object named as

Henna Tyynismaa

7

0 references

author name string

Mari Auranen

1

1 reference

15 September 2017

Maria Shcherbii

3

1 reference

15 September 2017

Anders Paetau

4

1 reference

15 September 2017

Sari Kiuru-Enari

5

1 reference

15 September 2017

Jussi P Toppila

6

1 reference

15 September 2017

26 March 2015

1 reference

15 September 2017

1 reference

15 September 2017

1

1 reference

15 September 2017

1

1 reference

15 September 2017

e1

1 reference

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

15 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821082

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821082

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821082

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821082

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821082

A method and server for predicting damaging missense mutations

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821082

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821082

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821082

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821082

MutationTaster2: mutation prediction for the deep-sequencing age.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821082

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821082

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

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4821082

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27066538

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/NXG.0000000000000003

1 reference

15 September 2017

1 reference

15 September 2017

PubMed publication ID

27066538

1 reference