(Q41245890)

28 September 2017

NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings (English)

1 reference

28 September 2017

S Pitkänen

1

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28 September 2017

A Feigenbaum

series ordinal

2

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28 September 2017

R Laframboise

series ordinal

3

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28 September 2017

B H Robinson

series ordinal

4

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28 September 2017

1 January 1996

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Journal of Inherited Metabolic Disease

28 September 2017

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28 September 2017

19

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28 September 2017

5

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28 September 2017

675-686

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https://scigraph.springernature.com/pub.10.1007/bf01799845

28 September 2017

0 references

1 reference

https://api.crossref.org/works/10.1007%2FBF01799845

NADH- and NADPH-dependent formation of superoxide anions by bovine heart submitochondrial particles and NADH–ubiquinone reductase preparation

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799845

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia

21 January 2018

1 reference

12 December 2020

Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise

1 reference

12 December 2020

Familial cardiomyopathy with cataracts and lactic acidosis: a defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain

1 reference

12 December 2020

Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis

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12 December 2020

Findings in muscle in complex I (NADH coenzyme Q reductase) deficiency

1 reference

12 December 2020

Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia

1 reference

12 December 2020

The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia.

1 reference

12 December 2020

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

1 reference

12 December 2020

Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy

1 reference

12 December 2020

Bcl-2 functions in an antioxidant pathway to prevent apoptosis

1 reference

12 December 2020

Congenital cardiomyopathy and cataracts with lactic acidosis

1 reference

12 December 2020

Identification and inhibition of the ICE/CED-3 protease necessary for mammalian apoptosis

1 reference

12 December 2020

Deficiency of subunits of complex I or IV in mitochondrial myopathies: immunochemical and immunohistochemical study

1 reference

12 December 2020

Mitochondrial NADH-ubiquinone reductase: complementary DNA sequences of import precursors of the bovine and human 24-kDa subunit

1 reference

12 December 2020

Completeness of catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes

1 reference

12 December 2020

Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease

1 reference

12 December 2020

Characterization of cytochrome-c oxidase mutants in human fibroblasts

1 reference

12 December 2020

Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase

1 reference

12 December 2020

An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency.

1 reference

12 December 2020

Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy

1 reference

12 December 2020

The mitochondrial electron transport and oxidative phosphorylation system

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12 December 2020

Mitochondrial DNA sequence variation in human evolution and disease.

1 reference

12 December 2020

The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.

1 reference

12 December 2020

Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts

1 reference

12 December 2020

Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome

1 reference

12 December 2020

Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure.

1 reference

12 December 2020

The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains

1 reference

12 December 2020

Protein measurement with the Folin phenol reagent

1 reference

12 December 2020

Mitochondrial encephalomyopathy. Association with an NADH dehydrogenase deficiency

1 reference

12 December 2020

Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia

1 reference

12 December 2020

Selective killing of cells with oxidative defects in galactose medium: A screening test for affected patient fibroblasts

1 reference

12 December 2020

Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13

1 reference

12 December 2020

Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799845

1 reference

Dimensions Publication ID

28 September 2017

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