Literature DB >> 1383604

Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts.

N Telerman-Toppet1, D Biarent, J M Bouton, L de Meirleir, C Elmer, S Noel, E Vamos, S DiMauro.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1992        PMID： 1383604     DOI： 10.1007/bf02435967

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


× No keyword cloud information.
  4 in total

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

Authors:  M Zeviani; S Servidei; C Gellera; E Bertini; S DiMauro; S DiDonato
Journal:  Nature       Date:  1989-05-25       Impact factor: 49.962

Review 2.  Cytochrome c oxidase deficiency.

Authors:  S DiMauro; A Lombes; H Nakase; S Mita; G M Fabrizi; H J Tritschler; E Bonilla; A F Miranda; D C DeVivo; E A Schon
Journal:  Pediatr Res       Date:  1990-11       Impact factor: 3.756

3.  Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach.

Authors:  H J Tritschler; E Bonilla; A Lombes; F Andreetta; S Servidei; B Schneyder; A F Miranda; E A Schon; B Kadenbach; S DiMauro
Journal:  Neurology       Date:  1991-02       Impact factor: 9.910

4.  mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

Authors:  C T Moraes; S Shanske; H J Tritschler; J R Aprille; F Andreetta; E Bonilla; E A Schon; S DiMauro
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025
  4 in total
  3 in total

1.  Diagnostic value of succinate ubiquinone reductase activity in the identification of patients with mitochondrial DNA depletion.

Authors:  P Hargreaves; S Rahman; P Guthrie; J W Taanman; J V Leonard; J M Land; S J R Heales
Journal:  J Inherit Metab Dis       Date:  2002-02       Impact factor: 4.982

2.  Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome.

Authors:  J Poulton; C Sewry; C G Potter; T Bougeron; D Chretien; F A Wijburg; K J Morten; G Brown
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

3.  Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study.

Authors:  C Mariotti; G Uziel; F Carrara; M Mora; A Prelle; V Tiranti; S DiDonato; M Zeviani
Journal:  J Neurol       Date:  1995-09       Impact factor: 4.849
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.