(Q48413449)

11 February 2018

title

mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy. (English)

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11 February 2018

author

Wolfram S. Kunz

6

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11 February 2018

author name string

E J Kirches

1

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11 February 2018

K Winkler

2

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11 February 2018

M Warich-Kirches

3

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11 February 2018

R Szibor

4

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11 February 2018

F Wien

5

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11 February 2018

P von Bossanyi

7

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11 February 2018

P K Bajaj

8

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11 February 2018

K Dietzmann

9

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11 February 2018

publication date

1 June 1998

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11 February 2018

Journal of Inherited Metabolic Disease

published in

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11 February 2018

volume

21

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11 February 2018

issue

4

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11 February 2018

page(s)

400-408

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11 February 2018

https://scigraph.springernature.com/pub.10.1023/a:1005306725644

exact match

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cites work

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12 December 2020

Sequence and organization of the human mitochondrial genome

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12 December 2020

Early-onset fatal encephalomyopathy associated with severe mtDNA depletion

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12 December 2020

Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion

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12 December 2020

Mitochondrial DNA mutations in diseases of energy metabolism

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12 December 2020

Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome

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12 December 2020

Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome.

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12 December 2020

A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation

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12 December 2020

Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation

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12 December 2020

Enzymatic activities of mitochondrial respiratory complexes from children muscular biopsies. Age-related evolutions

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12 December 2020

Ophthalmic involvement in myo-neuro-gastrointestinal encephalopathy syndrome

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12 December 2020

Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease

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12 December 2020

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder

1 reference

12 December 2020

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

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12 December 2020

Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy.

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12 December 2020

Diseases of the mitochondrial DNA.

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12 December 2020

Mitochondrial DNA depletion: prevalence in a pediatric population referred for neurologic evaluation.

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12 December 2020

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

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12 December 2020

Functional characterization of mitochondrial oxidative phosphorylation in saponin-skinned human muscle fibers

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12 December 2020

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

1 reference

12 December 2020

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

1 reference

12 December 2020

Deoxyribonucleic acid synthesis in the heart mitochondria after acute and exhaustive exercise

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12 December 2020

Measurement of fluorescence changes of NAD(P)H and of fluorescent flavoproteins in saponin-skinned human skeletal muscle fibers.

1 reference

12 December 2020

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005306725644

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1005306725644

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11 February 2018

Dimensions Publication ID

1004940268

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11 February 2018