CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis. (Q48381231)

11 February 2018

title

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis. (English)

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11 February 2018

amyotrophic lateral sclerosis

main subject

Italy

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author

Dario Ronchi

1

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Nicola Ticozzi

4

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Daniela Galimberti

6

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Stefania Corti

7

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Giacomo P Comi

10

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Marina Scarlato

object named as

Marina Scarlato

5

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Nereo Bresolin

object named as

Nereo Bresolin

9

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author name string

Giulietta Riboldi

2

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Roberto Del Bo

3

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Vincenzo Silani

8

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language of work or name

English

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publication date

8 January 2015

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published in

Brain

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volume

138

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page(s)

e372

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issue

Pt 8

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

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU384

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

21 January 2018

1 reference

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Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.

21 January 2018

1 reference

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Mitochondria and ALS: implications from novel genes and pathways.

21 January 2018

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Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU384

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

21 January 2018

1 reference

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Biochemical and genetic studies in a family with mitochondrial myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU384

Amyotrophic lateral sclerosis with ragged-red fibers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU384

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU384

Systematic analysis of the twin cx(9)c protein family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU384

Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU384

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU384

State of play in amyotrophic lateral sclerosis genetics

21 January 2018

1 reference

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Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWU384

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11 February 2018

PubMed ID

25576308

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11 February 2018