Troubles du sommeil et génétiqueMUNNICH, Arnold.Médecine & enfance. 2004, Vol 24, Num 2, pp 77-79, issn 0291-0233, 3 p., CAH1Conference Paper

CARACTERISATION BIOCHIMIQUE D'UN RECEPTEUR HORMONAL MEMBRANAIRE: LE RECEPTEUR BETA -ADRENERGIQUE DU FOIEMUNNICH ARNOLD.1979; ; FRA; DA. 1979; 90; 86-(4) F.: ILL.; 30 CM; BIBL. 55 REF.; TH.: MED./PARIS 5/1979Thesis

LE RECEPTEUR BETA -ADRENERGIQUE DES MEMBRANES PLASMIQUES DE FOIE DE RAT: CARACTERISATION PHARMACOLOGIQUE AVEC UN ANTAGONISTE TRITIE; REGULATION LORS DE LA DENERVATION HEPATIQUE ET DE LA CHOLESTASE EXPERIMENTALE = THE BETA -ADRENERGIC RECEPTOR OF THE PLASMA MEMBRANE OF THE RAT LIVER: PHARMACOLOGICAL INVESTIGATION USING A TRITIUM-LABELLED ANTAGONIST; REGULATION DURING HEPATIC DENERVATION AND EXPERIMENTAL CHOLESTASISMUNNICH ARNOLD.1981; ; FRA; DA. 1981; 91 P.; 30 CM; BIBL. 77 REF.; TH. 3E CYCLE: BIOCHIM./PARIS 7/1981Thesis

Mélatonine chez l'enfant : mise au point et approches thérapeutiques = Melatonin in childhood: up-to-date and therapeutic approachDE LEERSNYDER, Hélène; MUNNICH, Arnold.MTP. Médecine thérapeutique pédiatrie. 2001, Vol 4, Num 1, pp 67-71, issn 1286-5494Article

MAOB : un gène modificateur dans la phénylcétonurie? = MAOB: a modifier gene in phenylketonuria ?GHOZTAN, Aline; MUNNICH, Arnold.MS. Médecine sciences. 2004, Vol 20, Num 10, pp 929-932, issn 0767-0974, 4 p.Article

Genetic features of mitochondrial respiratory chain disordersRÖTIG, Agnès; MUNNICH, Arnold.Journal of the American Society of Nephrology. 2003, Vol 14, Num 12, pp 2995-3007, issn 1046-6673, 13 p.Article

Gènes, syndromes, séquences et tout ça... (Paris, 30-31 mars 2000) = Genes, syndromes, sequences and all... (Paris, 30-31 March 2000)Kachaner, Jean; Munnich, Arnold.Meeting of pediatric cardiologySéminaire de cardiologie pédiatriqueSéminaires Pierre Royer. 2000, 53 p.Conference Proceedings

TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator EdaraddMORLON, Aurore; MUNNICH, Arnold; SMAHI, Asma et al.Human molecular genetics (Print). 2005, Vol 14, Num 23, pp 3751-3757, issn 0964-6906, 7 p.Article

De nouveaux gènes candidats pour les dysplasies ectodermiques anhidrotiques : TAB2, TRAF6 et TAK1 = New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1MORLON, Aurore; SMAHI, Asma; MUNNICH, Arnold et al.MS. Médecine sciences. 2006, Vol 22, Num 3, pp 229-230, issn 0767-0974, 2 p.Article

TWIST : un nouvel acteur de l'ossification des os plats : L'os = TWIST: a new piece to the puzzle on flat bones ossificationEL GHOUZZI, Vincent; BONAVENTURE, Jacky; MUNNICH, Arnold et al.MS. Médecine sciences. 2001, Vol 17, Num 12, pp 1281-1288, issn 0767-0974Article

Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determinationRAY, Pierre F; VEKEMANS, Michel; MUNNICH, Arnold et al.Molecular human reproduction. 2001, Vol 7, Num 5, pp 489-494, issn 1360-9947Article

Génétique et troubles du langage : dans quelles circonstances adresser un enfant au généticien ? = Genetics and language disorders : when should a child be referred for genetic counselling ?MUNNICH, Arnold; JACQUEMONT, Sébastien.Rééducation orthophonique. 2001, Vol 39, Num 205, pp 9-14, issn 0034-222XArticle

LOCALISATION ET IDENTIFICATION DU GENE RESPONSABLE DE L'ACHONDROPLASIE DE L'HYPOCHONDROPLASIE ET DU NANISME THANATOPHORE = LOCALISATION AND IDENTIFICATION OF THE GENE RESPONSIBLE OF ACHONDROPLASIA HYPOCHONDROPLASIA AND THANATOPHORIC DWARFISMRousseau, Francis; Munnich, Arnold.1996, 160 p.Thesis

Cytopathies mitochondriales = Mitochondrial disordersMUNNICH, Arnold; DE LONLAY, Pascale; RÖTIG, Agnès et al.Bulletin de l'Académie nationale de médecine. 2009, Vol 193, Num 1, pp 19-43, issn 0001-4079, 25 p.Article

Régulation de l'expression du gène de pyruvate kinase L dans le foie de ratMunnich, Arnold; Buttin, Gérard.1989, 114 p.Thesis

Activation of Peroxisome Proliferator-Activated Receptor Pathway Stimulates the Mitochondrial Respiratory Chain and Can Correct Deficiencies in Patients' Cells Lacking Its ComponentsBASTIN, Jean; AUBEY, Flore; RÖTIG, Agnès et al.The Journal of clinical endocrinology and metabolism. 2008, Vol 93, Num 4, pp 1433-1441, issn 0021-972X, 9 p.Article

Extracellular proteases and their inhibitors in genetic diseases of the central nervous systemMOLINARI, Florence; MESKANAITE, Virginia; MUNNICH, Arnold et al.Human molecular genetics (Print). 2003, Vol 12, pp R195-R200, issn 0964-6906, NS2Article

Chronology of reported denaturing high performance liquid chromatography (DHPLC)-based prenatal diagnosesRAY, Pierre F; BENIT, Paule; BONNEFONT, Jean Paul et al.Prenatal diagnosis. 2003, Vol 23, Num 1, issn 0197-3851, p. 81Article

Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophyDUCROQ, Dominique; SHALEV, Stavit; HABIB, Aviv et al.European journal of human genetics. 2006, Vol 14, Num 12, pp 1269-1273, issn 1018-4813, 5 p.Article

L'enfant polyhandicapé et son milieu. Groupe de Recherche sur l'Autisme et le PolyhandicapGAYDA, Michel; LEBOVICI, Serge; WAHL, Bernadette et al.2002, 148 p., isbn 2-747-52309-8Book

No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patientsFAIVRE, Laurence; VEKEMANS, Michel; SANLAVILLE, Damien et al.American journal of medical genetics. 2001, Vol 99, Num 2, pp 166-167, issn 0148-7299Article

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophyLEFEBVRE, Suzie; BURLET, Philippe; VIOLLET, Louis et al.Human molecular genetics (Print). 2002, Vol 11, Num 9, pp 1017-1027, issn 0964-6906Article

Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samplesCHRETIEN, Dominique; SLAMA, Abdelhamid; BRIERE, Jean-Jacques et al.Current medicinal chemistry. 2004, Vol 11, Num 2, pp 233-239, issn 0929-8673, 7 p.Article

Prévention de l'arriération mentale chez l'enfant de mère phénylcétonurique = Prevention of mental retardation in the child with a phenylketonuric motherFREZAL; BOSCHETTI, R; BRIARD et al.1987, 28 p.Report

Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failureVEDRENNE, Vanessa; GALMICHE, Louise; CHRETIEN, Dominique et al.Journal of hepatology. 2012, Vol 56, Num 1, pp 294-297, issn 0168-8278, 4 p.Article