Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease (Q24648969)

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8 January 2020

title

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

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8 January 2020

1 reference

1

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Dorota Piekutowska-Abramczuk

8 January 2020

3

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Agnieszka Karkucinska-Wieckowska

8 January 2020

5

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8 January 2020

Wiesława Grajkowska

7

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8 January 2020

Tomasz Kmieć

8

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8 January 2020

Jolanta Sykut-Cegielska

10

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8 January 2020

author name string

E Matyja

2

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8 January 2020

T Szymanska-Debinska

4

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8 January 2020

E Karczmarewicz

6

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8 January 2020

E Popowska

9

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8 January 2020

language of work or name

English

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publication date

1 October 2007

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Journal of Clinical Pathology

8 January 2020

published in

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8 January 2020

volume

61

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8 January 2020

issue

4

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8 January 2020

page(s)

460-466

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Subacute necrotizing encephalomyelopathy in an infant

8 January 2020

cites work

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings

7 April 2017

1 reference

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Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

7 April 2017

1 reference

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Mutation screening in patients with isolated cytochrome c oxidase deficiency

7 April 2017

1 reference

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A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome

7 April 2017

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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Mitochondrial encephalomyopathies: an update

7 April 2017

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Genetic defects of cytochrome c oxidase assembly.

28 September 2017

1 reference

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Mitochondrial myopathies and the role of the pathologist in the molecular era.

28 September 2017

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28 September 2017

1 reference

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

28 September 2017

1 reference

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A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

28 September 2017

1 reference

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Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue

28 September 2017

1 reference

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Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants

28 September 2017

1 reference

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

28 September 2017

1 reference

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Mutations in SURF1 are not specifically associated with Leigh syndrome

30 May 2018

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Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment

30 May 2018

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

30 May 2018

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

28 November 2018

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

28 November 2018

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Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome

28 November 2018

1 reference

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Investigation of children for mitochondriopathy confirms need for strict patient selection, improved morphological criteria, and better laboratory methods

28 November 2018

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

28 November 2018

1 reference

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

28 November 2018

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Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle

28 November 2018

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Pathology of skeletal muscle in mitochondrial disorders

28 November 2018

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Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations

28 November 2018

1 reference

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Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome.

28 November 2018

1 reference

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SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome

28 November 2018

1 reference

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

28 November 2018

1 reference

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Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates.

28 November 2018

1 reference

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

28 November 2018

1 reference

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A SURF1 gene mutation presenting as isolated leukodystrophy

28 November 2018

1 reference

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Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571978

New splicing-site mutations in the SURF1 gene in Leigh syndrome patients

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571978

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2571978

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

28 November 2018

1 reference

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[Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene]

28 November 2018

1 reference

12 December 2020

Hypertrichosis in patients with SURF1 mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations

1 reference

12 December 2020

Metabolic acidosis versus a compensation of respiratory alkalosis in four children with Leigh's disease

1 reference

12 December 2020

[Value of skin fibroblasts in culture for the diagnosis of mitochondrial cell dysfunction. Apropos of 5 cases with cytochrome c oxidase deficiency]

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJCP.2007.051060

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1136/JCP.2007.051060

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17908801%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17908801%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

PubMed publication ID

17908801

1 reference