(Q41203534)

28 September 2017

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title

Maternal inheritance and the evaluation of oxidative phosphorylation diseases (English)

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28 September 2017

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J M Shoffner

1

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28 September 2017

language of work or name

English

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publication date

1 November 1996

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28 September 2017

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28 September 2017

volume

348

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28 September 2017

issue

9037

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28 September 2017

page(s)

1283-1288

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Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

28 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study

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https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

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https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

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https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

An autosomal locus predisposing to deletions of mitochondrial DNA

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https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

Renal amino acid transport in adults with oxidative phosphorylation diseases

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https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies

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https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy: analysis of nucleotide sequence and tissue distribution.

1 reference

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7 January 2021

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

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https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

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https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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7 January 2021

Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

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7 January 2021

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

A new point mutation associated with mitochondrial encephalomyopathy

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https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation

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7 January 2021

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome

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https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2896%2909138-6

7 January 2021

10.1016/S0140-6736(96)09138-6

Identifiers

DOI

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28 September 2017

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