(Q47803559)

5 February 2018

title

Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres (English)

1 reference

5 February 2018

author name string

Moslemi AR

1

1 reference

5 February 2018

Tulinius M

2

1 reference

5 February 2018

Holme E

3

1 reference

5 February 2018

Oldfors A

4

1 reference

5 February 2018

publication date

1 June 1998

1 reference

5 February 2018

published in

Neuromuscular Disorders

1 reference

5 February 2018

volume

8

1 reference

5 February 2018

issue

5

1 reference

5 February 2018

page(s)

345-349

1 reference

5 February 2018

Molecular genetic aspects of human mitochondrial disorders

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

Mitochondrial encephalomyopathies: clinical and molecular analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

Mitochondrial DNA deletions in muscle fibers in inclusion body myositis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

Cytochrome c oxidase deficiency in infancy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

Sequence and organization of the human mitochondrial genome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

Heteroplasmic mitochondrial tRNALys mutation and its complementation in MERRF patient-derived mitochondrial transformants

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900029-7

7 January 2021

10.1016/S0960-8966(98)00029-7

Identifiers

DOI

1 reference

5 February 2018

1 reference

5 February 2018