APPROCHE TOPOLOGIQUE ET FONCTIONNELLE DES SITES RECONNAISSANT LES ADENINE-NUCLEOTIDES DANS LES ⁺H-ATPASES = TOPOLOGY AND FUNCTION OF ADENINE NUCLEOTIDE BINDING SITES IN ⁺H-ATPASELUNARDI JOEL.1981; ; FRA; DA. 1981; 198 P.; 30 CM; BIBL. 20 P.; TH.: SCI. NAT./GRENOBLE 1/1981Thesis

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 geneCOUTTON, Charles; MONNIER, Nicole; RENDU, John et al.Clinical biochemistry. 2010, Vol 43, Num 6, pp 609-614, issn 0009-9120, 6 p.Article

Le récepteur de la ryanodine de type I : Un canal sous surveillance redox = Ryanodine receptor : redox state mattersLUNARDI, Joël; FAURE, Julien; MARTY, Isabelle et al.MS. Médecine sciences. 2008, Vol 24, Num 11, pp 897-899, issn 0767-0974, 3 p.Article

Détermination simultanée du guanidinoacétate, de la créatine et de la créatinine par chromatographie liquide couplée à la spectrométrie de masse en tandem: outil de diagnostic biochimique pour les syndromes de déficit en créatine et perspectives d'utilisation sur les fibroblastes = Simultaneous determination of guanidinoacetate, creatine and creatinine by liquid chromatography-tandem mass spectrometry: a diagnostic tool for creatine deficiency syndromes in body fluids and a perspective use on cultured fibroblastsVAN NOOLEN, Laetitia; MONNERET, Denis; DUCROS, Véronique et al.Annales de biologie clinique (Paris). 2013, Vol 71, Num 4, pp 429-437, issn 0003-3898, 9 p.Article

Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation : a new perspective on Lowe syndrome pathophysiologyFAUCHERRE, Adèle; DESBOIS, Pierrette; NAGANO, Fumiko et al.Human molecular genetics (Print). 2005, Vol 14, Num 11, pp 1441-1448, issn 0964-6906, 8 p.Article

Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi networkFAUCHERRE, Adèle; DESBOIS, Pierrette; SATRE, Véronique et al.Human molecular genetics (Print). 2003, Vol 12, Num 19, pp 2449-2456, issn 0964-6906, 8 p.Article

Progress in the definition of a reference human mitochondrial proteomeLESCUYER, Pierre; STRUB, Jean-Marc; LUCHE, Sylvie et al.Proteomics (Weinheim. Print). 2003, Vol 3, Num 2, pp 157-167, issn 1615-9853, 11 p.Article

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermiaCOUTTON, Charles; ZOUARI, Raoudha; SERMONDADE, Nathalie et al.Human reproduction (Oxford. Print). 2012, Vol 27, Num 8, pp 2549-2558, issn 0268-1161, 10 p.Article

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesiaROMERO, Norma Beatriz; MONNIER, Nicole; VIOLLET, Louis et al.Brain. 2003, Vol 126, pp 2341-2349, issn 0006-8950, 9 p., 11Article

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptorMONNIER, Nicole; ROMERO, Norma Beatriz; LERALE, Joëlle et al.Human molecular genetics (Print). 2000, Vol 9, Num 18, pp 2599-2608, issn 0964-6906Article

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in humanROUX-BUISSON, Nathalie; CACHEUX, Marine; LE MAREC, Herve et al.Human molecular genetics (Print). 2012, Vol 21, Num 12, pp 2759-2767, issn 0964-6906, 9 p.Article

Presence of two different genetic traits in malignant hyperthermia families: Implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibilityMONNIER, Nicole; KRIVOSIC-HORBER, Renée; PAYEN, Jean-Francois et al.Anesthesiology (Philadelphia). 2002, Vol 97, Num 5, pp 1067-1074, issn 0003-3022, 8 p.Article

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptorMONNIER, Nicole; ROMERO, Norma Beatriz; LERALE, Joëlle et al.Human molecular genetics (Print). 2001, Vol 10, Num 22, pp 2581-2592, issn 0964-6906Article

A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosisKHELIFA, Mariem Ben; ZOUARI, Raoudha; HARBUZ, Radu et al.Molecular human reproduction. 2011, Vol 17, Num 11-12, pp 762-768, issn 1360-9947, 7 p.Article

Multiminicore disease in a family susceptible to malignant hyperthermia: Histology, in vitro contracture tests, and genetic characterizationGUIS, Sandrine; FIGARELLA-BRANGER, Dominique; MONNIER, Nicole et al.Archives of neurology (Chicago). 2004, Vol 61, Num 1, pp 106-113, issn 0003-9942, 8 p.Article

Early detection of chemoresistance In vivo through the use of a Radiolabeled antisense oligonucleotideTOUBOUL, Muriel; GAUCHEZ, Anne-Sophie; DU MOULINET D'HARDEMARE, Amaury et al.Anticancer research. 2002, Vol 22, Num 6A, pp 3349-3356, issn 0250-7005, 8 p.Article

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanismsOCHALA, Julien; GOKHIN, David S; PENISSON-BESNIER, Isabelle et al.Human molecular genetics (Print). 2012, Vol 21, Num 20, pp 4473-4485, issn 0964-6906, 13 p.Article

Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular TachycardiaHAYASHI, Meiso; DENJOY, Isabelle; KAMBLOCK, Joël et al.Circulation (New York, N.Y.). 2009, Vol 119, Num 18, pp 2426-2434, issn 0009-7322, 9 p.Article

Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermiaKHELIFA, Mariem Ben; COUTTON, Charles; TRIKI, Chema et al.Human reproduction (Oxford. Print). 2012, Vol 27, Num 11, pp 3337-3346, issn 0268-1161, 10 p.Article

Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disordersLASNE, Dominique; BAUJAT, Geneviève; MIRAULT, Tristan et al.British journal of haematology. 2010, Vol 150, Num 6, pp 685-688, issn 0007-1048, 4 p.Article

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndromeHARBUZ, Radu; LESPINASSE, James; BOULET, Stéphanie et al.Prenatal diagnosis. 2010, Vol 30, Num 11, pp 1072-1078, issn 0197-3851, 7 p.Article

The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African populationDIETERICH, Klaus; ZOUARI, Raoudha; KHAROUF, Mahmoud et al.Human molecular genetics (Print). 2009, Vol 18, Num 7, pp 1301-1309, issn 0964-6906, 9 p.Article

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 geneFERREIRO, Ana; MONNIER, Nicole; LEMAINQUE, Arnaud et al.Annals of neurology. 2002, Vol 51, Num 6, pp 750-759, issn 0364-5134Article

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegiaMONNIER, Nicole; FERREIRO, Ana; MARTY, Isabelle et al.Human molecular genetics (Print). 2003, Vol 12, Num 10, pp 1171-1178, issn 0964-6906, 8 p.Article

Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathyDOWLING, James J; ARBOGAST, Sandrine; FERREIRO, Ana et al.Brain. 2012, Vol 135, pp 1115-1127, issn 0006-8950, 13 p., 4Article