(Q83843481)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22488715%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

title

SURF1-associated Leigh syndrome: a case series and novel mutations (English)

1 reference

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28 January 2020

author name string

Inn-Chi Lee

1

1 reference

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28 January 2020

Ayman W El-Hattab

2

1 reference

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28 January 2020

Jing Wang

3

1 reference

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28 January 2020

Fang-Yuan Li

4

1 reference

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28 January 2020

Shao-Wen Weng

5

1 reference

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28 January 2020

William J Craigen

6

1 reference

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28 January 2020

Lee-Jun C Wong

7

1 reference

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28 January 2020

publication date

30 April 2012

1 reference

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28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22488715%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

volume

33

1 reference

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28 January 2020

issue

8

1 reference

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28 January 2020

page(s)

1192-1200

1 reference

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Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

28 January 2020

cites work

1 reference

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7 January 2021

Early developmental pathology due to cytochrome c oxidase deficiency is revealed by a new zebrafish model

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7 January 2021

Diagnostic criteria for respiratory chain disorders in adults and children.

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7 January 2021

A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.

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7 January 2021

SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.

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7 January 2021

The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report

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7 January 2021

Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations

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7 January 2021

Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency

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7 January 2021

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

1 reference

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7 January 2021

Mitochondrial respiratory-chain diseases

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7 January 2021

Transcriptional activators HAP/NF-Y rescue a cytochrome c oxidase defect in yeast and human cells

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7 January 2021

Biochemical assays of respiratory chain complex activity

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7 January 2021

Subacute necrotizing encephalomyelopathy in an infant

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7 January 2021

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

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7 January 2021

SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency

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7 January 2021

Three novel SURF-1 mutations in Japanese patients with Leigh syndrome

1 reference

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7 January 2021

Hypertrichosis in patients with SURF1 mutations

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7 January 2021

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

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7 January 2021

Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome.

1 reference

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7 January 2021

SURF1 missense mutations promote a mild Leigh phenotype.

1 reference

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7 January 2021

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

1 reference

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7 January 2021

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22095

7 January 2021

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

1 reference

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7 January 2021

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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7 January 2021

A SURF1 gene mutation presenting as isolated leukodystrophy.

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7 January 2021

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

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7 January 2021

Mutation screening in patients with isolated cytochrome c oxidase deficiency

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7 January 2021

Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome

1 reference

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7 January 2021

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

1 reference

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7 January 2021

Cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22095

7 January 2021

Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22095

7 January 2021

Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2

1 reference

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7 January 2021

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

1 reference

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7 January 2021

Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22095

7 January 2021

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%2FHUMU.22095

7 January 2021

Maternal Segmental Disomy in Leigh Syndrome with Cytochrome c Oxidase Deficiency Caused by Homozygous SURF1 Mutation

1 reference

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7 January 2021

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency

1 reference

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7 January 2021

Mutations in SURF1 are not specifically associated with Leigh syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22095

7 January 2021

A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22095

7 January 2021

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22095

7 January 2021

Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G-->C mutation

1 reference

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7 January 2021

Facial Dysmorphism in Leigh Syndrome With SURF-1 Mutation and COX Deficiency

1 reference

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7 January 2021

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Deficiency in complex IV (cytochrome c oxidase) of the respiratory chain, presenting as a leukodystrophy in two siblings with Leigh syndrome

1 reference

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22095

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22488715%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference