(Q48839472)

English

A SURF1 gene mutation presenting as isolated leukodystrophy.

scientific article published in June 2001

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/11409433

A SURF1 gene mutation presenting as isolated leukodystrophy. (English)

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/11409433

author name string

Rahman S

1

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/11409433

Brown RM

2

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/11409433

Chong WK

3

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/11409433

Wilson CJ

4

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/11409433

Brown GK

5

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/11409433

publication date

1 June 2001

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/11409433

Annals of Neurology

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/11409433

49

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/11409433

6

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/11409433

797-800

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/11409433

The inherited leukodystrophies: a clinical overview

1 reference

https://api.crossref.org/works/10.1002%2FANA.1060

21 January 2018

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

1 reference

https://api.crossref.org/works/10.1002%2FANA.1060

21 January 2018

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FANA.1060

21 January 2018

Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FANA.1060

21 January 2018

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy

1 reference

https://api.crossref.org/works/10.1002%2FANA.1060

21 January 2018

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FANA.1060

21 January 2018

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

https://api.crossref.org/works/10.1002%2FANA.1060

21 January 2018

Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FANA.1060

21 January 2018

Identical mutations and phenotypic variation

1 reference

https://api.crossref.org/works/10.1002%2FANA.1060

21 January 2018

[Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin]

1 reference

https://api.crossref.org/works/10.1002%2FANA.1060

21 January 2018

Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency

1 reference

https://api.crossref.org/works/10.1002%2FANA.1060

21 January 2018

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FANA.1060

21 January 2018

Identifiers

10.1002/ANA.1060

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/11409433

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/11409433

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