Literature DB >> 8295406

Clinical and biochemical phenotype of the MELAS mutation.

S Miyabayashi1, H Hanamizu, R Nakamura, J I Hayashi, K Tada.   

Abstract

Mesh：

Substances：

Year:  1993        PMID： 8295406     DOI： 10.1007/BF00714284

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


× No keyword cloud information.
  17 in total

1.  Defects of mitochondrial respiratory enzymes in cloned cells from MELAS fibroblasts.

Authors:  S Miyabayashi; H Hanamizu; R Nakamura; H Endo; K Tada
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies.

Authors:  J F Hess; M A Parisi; J L Bennett; D A Clayton
Journal:  Nature       Date:  1991-05-16       Impact factor: 49.962

3.  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

4.  Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction.

Authors:  J Hayashi; S Ohta; A Kikuchi; M Takemitsu; Y Goto; I Nonaka
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-01       Impact factor: 11.205

5.  Defective pattern of mitochondrial respiratory enzymes in mitochondrial myopathy.

Authors:  S Miyabayashi; K Haginoya; H Hanamizu; K Iinuma; K Narisawa; K Tada
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

6.  Extensive defects of mitochondrial electron-transfer chain in muscular cytochrome c oxidase deficiency.

Authors:  M Tanaka; S Miyabayashi; M Nishikimi; H Suzuki; Y Shimomura; K Ito; K Narisawa; K Tada; T Ozawa
Journal:  Pediatr Res       Date:  1988-10       Impact factor: 3.756

7.  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

8.  Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain.

Authors:  N G Kennaway; N R Buist; V M Darley-Usmar; A Papadimitriou; S Dimauro; R I Kelley; R A Capaldi; N K Blank; A D'Agostino
Journal:  Pediatr Res       Date:  1984-10       Impact factor: 3.756

9.  Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.

Authors:  M P King; Y Koga; M Davidson; E A Schon
Journal:  Mol Cell Biol       Date:  1992-02       Impact factor: 4.272

10.  Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: an age-related alteration.

Authors:  J Müller-Höcker
Journal:  J Neurol Sci       Date:  1990-12       Impact factor: 3.181
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.