(Q44108174)

29 November 2017

title

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation (English)

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29 November 2017

17

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11

Peter Nürnberg

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29 November 2017

19

Christine Klein

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29 November 2017

2

Katja Lohmann

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29 November 2017

18

Matthias Endres

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29 November 2017

Sarah Doss

1

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29 November 2017

Philip Seibler

3

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29 November 2017

Björn Arns

4

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29 November 2017

Thomas Klopstock

5

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29 November 2017

Christine Zühlke

6

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29 November 2017

Karen Freimann

7

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29 November 2017

Susen Winkler

8

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29 November 2017

Thora Lohnau

9

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29 November 2017

Mario Drungowski

10

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29 November 2017

Karin Wiegers

12

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29 November 2017

Ebba Lohmann

13

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29 November 2017

Sadaf Naz

14

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29 November 2017

Meike Kasten

15

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29 November 2017

Georg Bohner

16

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29 November 2017

publication date

8 November 2013

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29 November 2017

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29 November 2017

volume

261

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29 November 2017

issue

1

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29 November 2017

page(s)

207-212

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https://scigraph.springernature.com/pub.10.1007/s00415-013-7177-7

29 November 2017

exact match

0 references

cites work

A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

The many clinical faces of cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

Movement disorders in neuro-metabolic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

Slowly progressive cerebellar ataxia and cervical dystonia: clinical presentation of a new form of spinocerebellar ataxia?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

The genetics of dystonias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

Impaired complex IV activity in response to loss of LRPPRC function can be compensated by mitochondrial hyperfusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

The syndrome of (predominantly cervical) dystonia and cerebellar ataxia: new cases indicate a distinct but heterogeneous entity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

Movement disorders in spinocerebellar ataxias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

Mitochondria and dystonia: the movement disorder connection?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

Predominant dystonia with marked cerebellar atrophy: A rare phenotype in familial dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

A distinctive pattern of cortical excitability in patients with the syndrome of dystonia and cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

Performance of mutation pathogenicity prediction methods on missense variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7177-7

Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24202787

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-013-7177-7

1 reference

29 November 2017

1 reference