Literature DB >> 1405464

Detection of the A to G(3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalomyopathies.

K Inui1, H Tsukamoto, H Fukushima, M Taniike, J Tanaka, T Nishigaki, S Okada.   

Abstract

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Year:  1992        PMID： 1405464     DOI： 10.1007/bf02435964

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  10 in total

1.  Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

Authors:  M Zeviani; P Amati; N Bresolin; C Antozzi; G Piccolo; A Toscano; S DiDonato
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

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

Authors:  Y Goto; I Nonaka; S Horai
Journal:  Nature       Date:  1990-12-13       Impact factor: 49.962

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

Authors:  J M Shoffner; M T Lott; A M Lezza; P Seibel; S W Ballinger; D C Wallace
Journal:  Cell       Date:  1990-06-15       Impact factor: 41.582

4.  Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.

Authors:  S G Pavlakis; P C Phillips; S DiMauro; D C De Vivo; L P Rowland
Journal:  Ann Neurol       Date:  1984-10       Impact factor: 10.422

5.  Sequence and organization of the human mitochondrial genome.

Authors:  S Anderson; A T Bankier; B G Barrell; M H de Bruijn; A R Coulson; J Drouin; I C Eperon; D P Nierlich; B A Roe; F Sanger; P H Schreier; A J Smith; R Staden; I G Young
Journal:  Nature       Date:  1981-04-09       Impact factor: 49.962

6.  Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome: morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues.

Authors:  N Bresolin; M Moggio; L Bet; A Gallanti; A Prelle; E Nobile-Orazio; L Adobbati; C Ferrante; G Pellegrini; G Scarlato
Journal:  Ann Neurol       Date:  1987-06       Impact factor: 10.422

7.  Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene.

Authors:  K Inui; H Fukushima; H Tsukamoto; M Taniike; M Midorikawa; J Tanaka; T Nishigaki; S Okada
Journal:  J Pediatr       Date:  1992-01       Impact factor: 4.406

Review 8.  Mitochondrial myopathies.

Authors:  S DiMauro; E Bonilla; M Zeviani; M Nakagawa; D C DeVivo
Journal:  Ann Neurol       Date:  1985-06       Impact factor: 10.422

9.  Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies.

Authors:  I J Holt; A E Harding; J A Morgan-Hughes
Journal:  Nature       Date:  1988-02-25       Impact factor: 49.962

10.  Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature.

Authors:  N Fukuhara; S Tokiguchi; K Shirakawa; T Tsubaki
Journal:  J Neurol Sci       Date:  1980-07       Impact factor: 3.181
  10 in total

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