Authors:
VONKLEISTRETZOW JC
CORMIERDAIRE V
DELONLAY P
PARFAIT B
CHRETIEN D
RUSTIN P
FEINGOLD J
ROTIG A
MUNNICH A
Citation: Jc. Vonkleistretzow et al., A HIGH-RATE OF PARENTAL CONSANGUINITY (20-30-PERCENT) IN CYTOCHROME-OXIDASE DEFICIENCY, European journal of human genetics, 6, 1998, pp. 1148-1148
Citation: M. Nigou et al., DETECTION AND QUANTIFICATION OF THE A3243G MUTATION OF MITOCHONDRIAL-DNA BY LIGATION DETECTION REACTION, Molecular and cellular probes, 12(5), 1998, pp. 273-282
Citation: B. Parfait et al., COAMPLIFICATION OF NUCLEAR PSEUDOGENES AND ASSESSMENT OF HETEROPLASMYOF MITOCHONDRIAL-DNA MUTATIONS, Biochemical and biophysical research communications, 247(1), 1998, pp. 57-59
Authors:
VONKLEISTRETZOW JC
CORMIERDAIRE V
DELONLAY P
PARFAIT B
CHRETIEN D
RUSTIN P
FEINGOLD J
ROTIG A
MUNNICH A
Citation: Jc. Vonkleistretzow et al., A HIGH-RATE (20-PERCENT-30-PERCENT) OF PARENTAL CONSANGUINITY IN CYTOCHROME-OXIDASE DEFICIENCY, American journal of human genetics, 63(2), 1998, pp. 428-435
Authors:
RUSTIN P
BOURGERON T
PARFAIT B
CHRETIEN D
MUNNICH A
ROTIG A
Citation: P. Rustin et al., INBORN-ERRORS OF THE KREBS CYCLE - A GROUP OF UNUSUAL MITOCHONDRIAL DISEASES IN HUMAN, Biochimica et biophysica acta. Molecular basis of disease, 1361(2), 1997, pp. 185-197
Authors:
ROTIG A
PARFAIT B
HEIDET L
DUJARDIN G
RUSTIN P
MUNNICH A
Citation: A. Rotig et al., SEQUENCE AND STRUCTURE OF THE HUMAN OXA1L GENE AND ITS UPSTREAM ELEMENTS, Biochimica et biophysica acta. Molecular basis of disease, 1361(1), 1997, pp. 6-10
Authors:
PARFAIT B
PERCHERON A
CHRETIEN D
RUSTIN P
MUNNICH A
ROTIG A
Citation: B. Parfait et al., NO MITOCHONDRIAL CYTOCHROME-OXIDASE (COX) GENE-MUTATIONS IN 18 CASES OF COX DEFICIENCY, Human genetics, 101(2), 1997, pp. 247-250
Authors:
RUSTIN P
CHRETIEN D
PARFAIT B
ROTIG A
MUNNICH A
Citation: P. Rustin et al., NICOTINAMIDE ADENINE DINUCLEOTIDES PERMEATE THROUGH MITOCHONDRIAL-MEMBRANES IN HUMAN EPSTEIN-BARR VIRUS-TRANSFORMED LYMPHOCYTES, Molecular and cellular biochemistry, 174(1-2), 1997, pp. 115-119
Authors:
GEROMEL V
PARFAIT B
VONKLEISTRETZOW JC
CHRETIEN D
MUNNICH A
ROTIG A
RUSTIN P
Citation: V. Geromel et al., THE CONSEQUENCES OF A MILD RESPIRATORY-CHAIN DEFICIENCY ON SUBSTRATE COMPETITIVE OXIDATION IN HUMAN MITOCHONDRIA, Biochemical and biophysical research communications, 236(3), 1997, pp. 643-646
Authors:
PARFAIT B
PERCHERON A
CHRETIEN D
RUSTIN P
MUNNICH A
ROTIG A
Citation: B. Parfait et al., EXCLUSION OF MITOCHONDRIAL COX AND SURROUNDING TRANSFER-RNA GENES IN COMPLEX-IV DEFICIENCIES, American journal of human genetics, 61(4), 1997, pp. 1505-1505
Authors:
ROTIG A
APPELKVIST EL
GEROMEL V
CHRETIEN D
PARFAIT B
KADHOM N
EDERY P
LEBIDEAU M
ERNSTER L
MUNNICH A
RUSTIN P
Citation: A. Rotig et al., COQ10-RESPONSIVE MITOCHONDRIAL ENCEPHALOMYOPATHY DUE TO AN INBORN ERROR OF UBIQUINONE SYNTHESIS METABOLISM, American journal of human genetics, 61(4), 1997, pp. 2098-2098
Authors:
RUSTIN P
PARFAIT B
CHRETIEN D
BOURGERON T
DJOUADI F
BASTIN J
ROTIG A
MUNNICH A
Citation: P. Rustin et al., FLUXES OF NICOTINAMIDE ADENINE DINUCLEOTIDES THROUGH MITOCHONDRIAL-MEMBRANES IN HUMAN CULTURED-CELLS, The Journal of biological chemistry, 271(25), 1996, pp. 14785-14790
Authors:
BIRCHMACHIN MA
MARSAC C
PONSOT G
PARFAIT B
TAYLOR RW
RUSTIN P
MUNNICH A
Citation: Ma. Birchmachin et al., BIOCHEMICAL INVESTIGATIONS AND IMMUNOBLOT ANALYSES OF 2 UNRELATED PATIENTS WITH AN ISOLATED DEFICIENCY IN COMPLEX-II OF THE MITOCHONDRIAL RESPIRATORY-CHAIN, Biochemical and biophysical research communications, 220(1), 1996, pp. 57-62
Authors:
CISSE A
CHAUFFERT M
CHEVENNE D
PARFAIT B
JULIER C
ASSOULINE Z
MICHEL S
TRIVIN F
Citation: A. Cisse et al., DISTRIBUTION OF HLA-DQA1 AND HLA-DQB1 ALLELES AND DQA1-DQB1 GENOTYPESAMONG SENEGALESE PATIENTS WITH INSULIN-DEPENDENT DIABETES-MELLITUS, Tissue antigens, 47(4), 1996, pp. 333-337
Authors:
CHAUFFERT M
CISSE A
CHEVENNE D
PARFAIT B
MICHEL S
TRIVIN F
Citation: M. Chauffert et al., HLA-DQ-BETA-1 TYPING AND NON-ASP(57) ALLELES IN THE ABORIGINE POPULATION OF SENEGAL, Diabetes care, 18(5), 1995, pp. 677-680
Authors:
BOURGERON T
PARFAIT B
RUSTIN P
CHRETIEN D
BIRCHMACHIN M
ROTIG A
Citation: T. Bourgeron et al., MITOCHONDRIAL COMPLEX-II DEFICIENCY CAUSED BY A MUTATION OF A NUCLEARSUCCINATE-DEHYDROGENASE GENE, American journal of human genetics, 57(4), 1995, pp. 1007-1007