ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency (Q34459716)

2 August 2017

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency (English)

1 reference

2 August 2017

Helen Griffin

11

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Rita Horvath

object named as

Rita Horvath

17

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Hanns Lochmüller

10

object named as

Hanns Lochmüller

1 reference

2 August 2017

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Angela Pyle

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2 August 2017

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Patrick F Chinnery

1 reference

2 August 2017

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Veronika Boczonadi

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2 August 2017

Robert William Taylor

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object named as

Robert W Taylor

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2 August 2017

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Boglarka Bansagi

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2 August 2017

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Iain P Hargreaves

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2 August 2017

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Michio Hirano

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2 August 2017

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Emanuele Barca

1 reference

2 August 2017

Andrea Balreira

1

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2 August 2017

Marie Appleton

6

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2 August 2017

Claire Graham

7

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2 August 2017

Vedrana Milic Rasic

9

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2 August 2017

Ali Naini

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2 August 2017

Catarina M Quinzii

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2 August 2017

3 September 2014

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2 August 2017

261

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2 August 2017

11

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2192-2198

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Creative Commons Attribution 4.0 International

2 August 2017

start time

3 September 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s00415-014-7476-7

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cites work

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221650

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221650

Titin mutation segregates with hereditary myopathy with early respiratory failure

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221650

Heterogeneity of coenzyme Q10 deficiency: patient study and literature review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221650

The autosomal recessive cerebellar ataxias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221650

Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221650

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221650

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221650

Progression despite replacement of a myopathic form of coenzyme Q10 defect

6 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7476-7

ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7476-7

Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7476-7

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-014-7476-7

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25182700

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-014-7476-7

1 reference

Dimensions Publication ID

2 August 2017

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1 reference

2 August 2017

1 reference