(Q58184277)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20629161%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up (English)

1 reference

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7 February 2020

6

1 reference

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7 February 2020

Francesc Palau

8

1 reference

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7 February 2020

author name string

Merce Pineda

1

1 reference

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7 February 2020

Raquel Montero

2

1 reference

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7 February 2020

Asuncion Aracil

3

1 reference

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7 February 2020

Ana Mas

5

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7 February 2020

Dolores Martinez-Rubio

7

1 reference

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7 February 2020

Placido Navas

9

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7 February 2020

Paz Briones

10

1 reference

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7 February 2020

Rafael Artuch

11

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7 February 2020

Mar M O'Callaghan

4

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7 February 2020

language of work or name

English

0 references

publication date

1 July 2010

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7 February 2020

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7 February 2020

volume

25

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7 February 2020

issue

9

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7 February 2020

page(s)

1262-1268

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Cerebellar ataxia and coenzyme Q10 deficiency

7 February 2020

cites work

1 reference

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

21 January 2018

1 reference

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

21 January 2018

1 reference

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

21 January 2018

1 reference

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

21 January 2018

1 reference

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

21 January 2018

1 reference

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

21 January 2018

1 reference

Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

21 January 2018

1 reference

Mutations in coenzyme Q10 biosynthetic genes

21 January 2018

1 reference

Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up

21 January 2018

1 reference

Intensive coordinative training improves motor performance in degenerative cerebellar disease

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.23129

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20629161%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference