Literature DB >> 7609443

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome).

A Rötig1, V Cormier, P Chatelain, R Francois, J M Saudubray, P Rustin, A Munnich.   

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Year:  1993        PMID： 7609443     DOI： 10.1007/BF00711672

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


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  5 in total

1.  The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.

Authors:  D Chretien; T Bourgeron; A Rötig; A Munnich; P Rustin
Journal:  Biochem Biophys Res Commun       Date:  1990-11-30       Impact factor: 3.575

2.  Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Authors:  A Rötig; V Cormier; S Blanche; J P Bonnefont; F Ledeist; N Romero; J Schmitz; P Rustin; A Fischer; J M Saudubray
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

3.  Assessment of the mitochondrial respiratory chain.

Authors:  P Rustin; D Chretien; T Bourgeron; A Wucher; J M Saudubray; A Rotig; A Munnich
Journal:  Lancet       Date:  1991-07-06       Impact factor: 79.321

4.  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.

Authors:  R LUFT; D IKKOS; G PALMIERI; L ERNSTER; B AFZELIUS
Journal:  J Clin Invest       Date:  1962-09       Impact factor: 14.808

5.  Clinical aspects of mitochondrial disorders.

Authors:  A Munnich; P Rustin; A Rötig; D Chretien; J P Bonnefont; C Nuttin; V Cormier; A Vassault; P Parvy; J Bardet
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982
  5 in total
  4 in total

1.  Large mitochondrial DNA deletion in an infant with addison disease.

Authors:  Gloria P Duran; A Martinez-Aguayo; H Poggi; M Lagos; D Gutierrez; P R Harris
Journal:  JIMD Rep       Date:  2011-09-22

2.  Metabolic interventions against complex I deficiency in MELAS syndrome.

Authors:  K Majamaa; H Rusanen; A Remes; I E Hassinen
Journal:  Mol Cell Biochem       Date:  1997-09       Impact factor: 3.396

3.  Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice.

Authors:  Yi-Fan Chen; Cheng-Heng Kao; Ya-Ting Chen; Chih-Hao Wang; Chia-Yu Wu; Ching-Yen Tsai; Fu-Chin Liu; Chu-Wen Yang; Yau-Huei Wei; Ming-Ta Hsu; Shih-Feng Tsai; Ting-Fen Tsai
Journal:  Genes Dev       Date:  2009-05-15       Impact factor: 11.361

4.  The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family.

Authors:  Jie Hong; Yu-Wen Zhang; Hui-Jie Zhang; Hui-Ying Jia; Yu Zhang; Xiao-Yi Ding; Dan-Yang Zhou; Hui-Ping Chen; Xiao-Hua Jiang; Bin Cui; Xiao-Ying Li; Guang Ning
Journal:  Endocrine       Date:  2009-01-22       Impact factor: 3.633
  4 in total

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