AAAAAA
Results: 1-25/66
Authors:
LARSSON NG
WANG JM
WILHELMSSON H
OLDFORS A
RUSTIN P
LEWANDOSKI M
BARSH GS
CLAYTON DA
Citation: Ng. Larsson et al., MITOCHONDRIAL TRANSCRIPTION FACTOR-A IS NECESSARY FOR MTDNA MAINTENANCE AND EMBRYOGENESIS IN MICE, Nature genetics, 18(3), 1998, pp. 231-236
Authors:
ROTIG A
DELONLAY P
CHRETIEN D
FOURY F
KOENIG M
SIDI D
MUNNICH A
RUSTIN P
Citation: A. Rotig et al., FRATAXIN GENE EXPANSION CAUSES ACONITASE AND MITOCHONDRIAL IRON-SULFUR PROTEIN-DEFICIENCY IN FRIEDREICH ATAXIA, European journal of human genetics, 6, 1998, pp. 304-304
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
Authors:
ROTIG A
MUNNICH A
RUSTIN P
Citation: A. Rotig et al., FRIEDREICHS ATAXIA AND THE MITOCHONDRIA - RECONSTITUTING THE PUZZLE, MS. Medecine sciences, 14(1), 1998, pp. 104-105
Authors:
CORMIERDAIRE V
MUNNICH A
LYONNET S
RUSTIN P
DELEZOIDE AL
MAROTEAUX P
LEMERRER M
Citation: V. Cormierdaire et al., PRESENTATION OF 6 CASES OF STUVE-WIEDEMANN-SYNDROME, Pediatric radiology, 28(10), 1998, pp. 776-780
Authors:
CHRETIEN D
GALLEGO J
BARRIENTOS A
CASADEMONT J
CARDELLACH F
MUNNICH A
ROTIG A
RUSTIN P
Citation: D. Chretien et al., BIOCHEMICAL PARAMETERS FOR THE DIAGNOSIS OF MITOCHONDRIAL RESPIRATORY-CHAIN DEFICIENCY IN HUMANS, AND THEIR LACK OF AGE-RELATED-CHANGES, Biochemical journal, 329, 1998, pp. 249-254
Authors:
BONNET D
DELONLAY P
GAUTIER I
RUSTIN P
ROTIG A
KACHANER J
ACAR P
LEBIDOIS J
MUNNICH A
SIDI D
Citation: D. Bonnet et al., EFFICIENCY OF METABOLIC SCREENING IN CHILDHOOD CARDIOMYOPATHIES, European heart journal, 19(5), 1998, pp. 790-793
Authors:
MIRO O
CARDELLACH F
BARRIENTOS A
CASADEMONT J
ROTIG A
RUSTIN P
Citation: O. Miro et al., CYTOCHROME-C-OXIDASE ASSAY IN MINUTE AMOUNTS OF HUMAN SKELETAL-MUSCLEUSING SINGLE-WAVELENGTH SPECTROPHOTOMETERS, Journal of neuroscience methods, 80(1), 1998, pp. 107-111
Authors:
CORMIERDAIRE V
SUPERTIFURGA A
MUNNICH A
LYONNET S
RUSTIN P
DELEZOIDE AL
DELONLAY P
GIEDION A
MAROTEAUX P
LEMERRER M
Citation: V. Cormierdaire et al., CLINICAL HOMOGENEITY OF THE STUVE-WIEDEMANN-SYNDROME AND OVERLAP WITHTHE SCHWARTZ-JAMPEL-SYNDROME TYPE-2, American journal of medical genetics, 78(2), 1998, pp. 146-149
Authors:
HARPEY JP
HERON D
PRUDENT M
CHARPENTIER C
RUSTIN P
PONSOT G
CORMIERDAIRE V
Citation: Jp. Harpey et al., DIFFUSE LEUKODYSTROPHY IN AN INFANT WITH CYTOCHROME-C-OXIDASE DEFICIENCY, Journal of inherited metabolic disease, 21(7), 1998, pp. 748-752
Authors:
RABIER D
DIRY C
ROTIG A
RUSTIN P
HERON B
BARDET J
PARVY P
PONSOT G
MARSAC C
SAUDUBRAY JM
MUNNICH A
KAMOUN P
Citation: D. Rabier et al., PERSISTENT HYPOCITRULLINAEMIA AS A MARKER FOR MTDNA NARP T-8993 G-MUTATION, Journal of inherited metabolic disease, 21(3), 1998, pp. 216-219
Authors:
RUSTIN P
VONKLEISTRETZOW JC
ROTIG A
MUNNICH A
Citation: P. Rustin et al., IRON OVERLOAD AND MITOCHONDRIAL DISEASES, Lancet, 351(9111), 1998, pp. 1286-1287
Authors:
BOITIER E
DEGOUL F
DESGUERRE I
CHARPENTIER C
FRANCOIS D
PONSOT G
DIRY M
RUSTIN P
MARSAC C
Citation: E. Boitier et al., A CASE OF MITOCHONDRIAL ENCEPHALOMYOPATHY ASSOCIATED WITH A MUSCLE COENZYME Q(10) DEFICIENCY, Journal of the neurological sciences, 156(1), 1998, pp. 41-46
Authors:
CANTATORE P
PETRUZZELLA V
NICOLETTI C
PAPADIA F
FRACASSO F
RUSTIN P
GADALETA MN
Citation: P. Cantatore et al., ALTERATION OF MITOCHONDRIAL-DNA AND RNA LEVEL IN HUMAN FIBROBLASTS WITH IMPAIRED VITAMIN-B12 COENZYME SYNTHESIS, FEBS letters, 432(3), 1998, pp. 173-178
Authors:
PARFAIT B
RUSTIN P
MUNNICH A
ROTIG A
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:
ROTIG A
DELONLAY P
CHRETIEN D
FOURY F
KOENIG M
SIDI D
MUNNICH A
RUSTIN P
Citation: A. Rotig et al., ACONITASE AND MITOCHONDRIAL IRON-SULFUR PROTEIN-DEFICIENCY IN FRIEDREICH ATAXIA, Nature genetics, 17(2), 1997, pp. 215-217
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:
MAZZELLA M
CERONE R
BONACCI W
CARUSO U
MUNNICH A
RUSTIN P
SAUDUBRAY JM
ROMANO C
SERRA G
Citation: M. Mazzella et al., SEVERE COMPLEX-I DEFICIENCY IN A CASE OF NEONATAL-ONSET LACTIC-ACIDOSIS AND FATAL LIVER-FAILURE, Acta paediatrica, 86(3), 1997, pp. 326-329
Authors:
ROTIG A
LEHNERT A
CHRETIEN D
RUSTIN P
GUBLER MC
MUNNICH A
NIAUDET P
Citation: A. Rotig et al., KIDNEY INVOLVEMENT IN MITOCHONDRIAL DISOR DERS, MS. Medecine sciences, 13(1), 1997, pp. 18-27
Authors:
BONNET D
RUSTIN P
SIDI D
ACAR P
MUNNICH A
KACHANER J
Citation: D. Bonnet et al., EFFICIENCY OF METABOLIC SCREENING IN CHILDHOOD CARDIOMYOPATHIES, Journal of the American College of Cardiology, 29(2), 1997, pp. 11160-11160
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:
FERLIN T
LANDRIEU P
RAMBAUD C
FERNANDEZ H
DUMOULIN R
RUSTIN P
MOUSSON B
Citation: T. Ferlin et al., SEGREGATION OF THE GB993 MUTANT MITOCHONDRIAL-DNA THROUGH GENERATIONSAND EMBRYONIC-TISSUES IN A FAMILY AT RISK OF LEIGH-SYNDROME, The Journal of pediatrics, 131(3), 1997, pp. 447-449