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ELONGATION OF PALMITYL-COA IN MOUSE BRAIN MITOCHONDRIA. COMPARISON WITH STEARYL-COA.PATURNEAU JOUAS M; BAUMANN N; BOURRE JM et al.1976; BIOCHEM. BIOPHYS. RES. COMMUNIC.; U.S.A.; DA. 1976; VOL. 71; NO 4; PP. 1326-1334; BIBL. 31 REF.Article

BIOSYNTHESE DE L'ACIDE LIGNOCERIQUE DANS DEUX ORGANELLES (MITOCHONDRIES ET MICROSOMES) AU COURS DU DEVELOPPEMENT CEREBRAL DE LA SOURIS, NORMAL ET PATHOLOGIE (QUAKING ET JIMPY).BOURRE JM; PATURNEAU JOUAS M; DAUDU O et al.1976; C.R. ACAD. SCI., D; FR.; DA. 1976; VOL. 283; NO 10; PP. 409-412; ABS. ANGL.; BIBL. 18 REF.Article

INFLUENCE DE LA TENEUR EN ACIDE LINOLENIQUE DU REGIME MATERNEL SUR LA COMPOSITION EN ACIDES GRAS POLYINSATURES DES FRACTIONS SUBCELLULAIRES AU COURS DU DEVELOPPEMENT CEREBRAL CHEZ LE RATNOUVELOT A; DEDONDER DECOOPMAN E; SEZILLE G et al.1983; ANNALS OF NUTRITION AND METABOLISM; ISSN 0250-6807; CHE; DA. 1983; VOL. 27; NO 3; PP. 233-241; ABS. ENG; BIBL. 18 REF.Article

Erreurs inées du métabolisme et mort subite «inexpliquée» du nourrisson = Inhor errors of metabolism and sudden infant death syndromHARPEY, J.-P; CHARPENTIER, C; PATURNEAU-JOUAS, M et al.Bulletin de l'Académie nationale de médecine. 1987, Vol 171, Num 2, pp 261-269, issn 0001-4079Article

Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiencyHARPEY, J.-P; CHARPENTIER, C; COUDE, M et al.The Journal of pediatrics. 1987, Vol 110, Num 6, pp 881-884, issn 0022-3476Conference Paper

Les adrénoleucodystrophies hétérozygotes symptomatiques de l'adulte : 10 cas = Symptomatic adult heterozygous adrenoleukodystrophy : 10 casesMENAGE, P; CARREAU, V; TOURBAH, A et al.Revue neurologique (Paris). 1993, Vol 149, Num 8-9, pp 445-454, issn 0035-3787Article

Spectroscopic MRI : a tool for the evaluation of systemic lipid storage diseaseLEROY-WILLIG, A; DUBOC, D; BITTOUN, J et al.Magnetic resonance imaging. 1990, Vol 8, Num 4, pp 511-515, issn 0730-725X, 5 p.Article

Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochrome c oxidase deficiency in skeletal muscleROMERO, N. B; LESTIENNE, P; MARSAC, C et al.Journal of the neurological sciences. 1989, Vol 93, Num 2-3, pp 297-309, issn 0022-510X, 13 p.Article

Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)SEIBEL, P; DEGOUL, F; KADENBACH, B et al.Journal of the neurological sciences. 1991, Vol 105, Num 2, pp 217-224, issn 0022-510XArticle

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7BEN AMMAR, A; PETIT, F; LACOUR, A et al.Journal of neurology. 2010, Vol 257, Num 5, pp 754-766, issn 0340-5354, 13 p.Article

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North AfricaRICHARD, P; GAUDON, K; HAMRI, A et al.Neurology. 2008, Vol 71, Num 24, pp 1967-1972, issn 0028-3878, 6 p.Article

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