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Ideology, semiotics, and clifford geertz : Some russian reflections = Idéologie et sémiotique chez Clifford Geertz: quelques réflexions russesZORIN, Andrey; MONNIER, Nicole.History and theory (Print). 2001, Vol 40, Num 1, pp 57-73, issn 0018-2656Article

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

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

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

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivityMOKBEL, Nancy; ILKOVSKI, Biljana; MENARD, Dominique et al.Brain. 2013, Vol 136, pp 494-507, issn 0006-8950, 14 p., 2Article

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

USING COMPLEMENTARY DNA FROM MyoD-TRANSDUCED FIBROBLASTS TO SEQUENCE LARGE MUSCLE GENESWADDELL, Leigh B; MONNIER, Nicole; COOPER, Sandra T et al.Muscle & nerve. 2011, Vol 44, Num 2, pp 280-282, issn 0148-639X, 3 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

Mutations in TPM3 Are a Common Cause of Congenital Fiber Type DisproportionCLARKE, Nigel F; KOLSKI, Hanna; LABARRE-VILA, Annick et al.Annals of neurology. 2008, Vol 63, Num 3, pp 329-337, issn 0364-5134, 9 p.Article

Abnormal distribution of calcium-handling proteins : A novel distinctive marker in core myopathiesHERASSE, Muriel; PARAIN, Karine; MARTY, Isabelle et al.Journal of neuropathology and experimental neurology. 2007, Vol 66, Num 1, pp 57-65, issn 0022-3069, 9 p.Article

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

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

Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrumBHARUCHA-GOEBEL, Diana Xerxes; SANTI, Mariarita; MONNIER, Nicole et al.Neurology. 2013, Vol 80, Num 17, pp 1584-1589, issn 0028-3878, 6 p.Article

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

One hypovolaemic shock...two kinin pathway abnormalitiesGUICHON, Céline; FLOCCARD, Bernard; COPPERE, Brigitte et al.Intensive care medicine (Print). 2011, Vol 37, Num 7, pp 1227-1228, issn 0342-4642, 2 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

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