Výsledky vyhledávání - Rivier, Francois

Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder Autor Lopez, Régis, Rivier, François, Chelly, Jamel, Dauvilliers, Yves

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Modulation of p38 Mitogen-Activated Protein Kinase Cascade and Metalloproteinase Activity in Diaphragm Muscle in Response to Free Radical Scavenger Administration in Dystrophin-Def... Autor Hnia, Karim, Hugon, Gerald, Rivier, François, Masmoudi, Ahmed, Mercier, Jacques, Mornet, Dominique

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Effect of beta-dystroglycan processing on utrophin/Dp116 anchorage in normal and mdx mouse Schwann cell membrane Autor Hnia, Karim, Hugon, Gerald, Masmoudi, Ahmed, Mercier, Jacques, Rivier, François, Mornet, Dominique

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The effect of respiratory muscle training with CO2 breathing on cellular adaptation of mdx mouse diaphragm Autor Matécki, Stefan, Rivier, François, Hugon, Gerald, Koechlin, Christelle, Michel, Alain, Préfaut, Christian, Mornet, Dominique, Ramonatxo, Michèle

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Pathological pattern of Mdx mice diaphragm correlates with gradual expression of the short utrophin isoform Up71 Autor Hnia, Karim, Tuffery-Giraud, Sylvie, Vermaelen, Marianne, Hugon, Gerald, Chazalette, Delphine, Masmoudi, Ahmed, Rivier, François, Mornet, Dominique

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Biochemical Properties of Gastrokine-1 Purified from Chicken Gizzard Smooth Muscle Autor Hnia, Karim, Notarnicola, Cécile, de Santa Barbara, Pascal, Hugon, Gérald, Rivier, François, Laoudj-Chenivesse, Dalila, Mornet, Dominique

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E2F transcription factor-1 deficiency reduces pathophysiology in the mouse model of Duchenne muscular dystrophy through increased muscle oxidative metabolism Autor Blanchet, Emilie, Annicotte, Jean-Sébastien, Pradelli, Ludivine A., Hugon, Gérald, Matecki, Stéfan, Mornet, Dominique, Rivier, François, Fajas, Lluis

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Sporadic and Familial Variants in NF1: An Explanation of the Wide Variability in Neurocognitive Phenotype? Autor Biotteau, Maëlle, Déjean, Sébastien, Lelong, Sandrine, Iannuzzi, Stéphanie, Faure-Marie, Nathalie, Castelnau, Pierre, Rivier, François, Lauwers-Cancès, Valérie, Baudou, Eloïse, Chaix, Yves

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Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene Autor Ishmukhametova, Aliya, Van Kien, Philippe Khau, Méchin, Déborah, Thorel, Delphine, Vincent, Marie-Claire, Rivier, François, Coubes, Christine, Humbertclaude, Véronique, Claustres, Mireille, Tuffery-Giraud, Sylvie

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Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations! Autor Roubertie, Agathe, Charif, Majida, Meyer, Pierre, Manes, Gael, Meunier, Isabelle, Taieb, Guillaume, Junta Morales, Raul, Guichet, Agnès, Delettre, Cecile, Sarzi, Emmanuelle, Leboucq, Nicolas, Rivier, François, Lenaers, Guy

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Pregnancy in MNGIE: a clinical and metabolic honeymoon Autor Pappalardo, Pauline, Benoist, Jean‐François, Bax, Bridget E., Carra‐Dallière, Clarisse, Marelli, Cecilia, Levene, Michele, Begue, Laetitia, Rolland, Anne, Flori, Nicolas, Rivier, François, Blanchet, Catherine, Munnich, Arnold, Altwegg, Romain, Meyer, Pierre, Roubertie, Agathe

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14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements Autor Allou, Lila, Lambert, Laetitia, Amsallem, Daniel, Bieth, Eric, Edery, Patrick, Destrée, Anne, Rivier, François, Amor, David, Thompson, Elizabeth, Nicholl, Julian, Harbord, Michael, Nemos, Christophe, Saunier, Aline, Moustaïne, Aissa, Vigouroux, Adeline, Jonveaux, Philippe, Philippe, Christophe

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AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation? Autor Roubertie, Agathe, Hieu, Nelson, Roux, Charles-Joris, Leboucq, Nicolas, Manes, Gael, Charif, Majida, Echenne, Bernard, Goizet, Cyril, Guissart, Claire, Meyer, Pierre, Marelli, Cecilia, Rivier, François, Burglen, Lydie, Horvath, Rita, Hamel, Christian P., Lenaers, Guy

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Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients Autor Meyer, Pierre, Notarnicola, Cécile, Meli, Albano C., Matecki, Stefan, Hugon, Gérald, Salvador, Jérémy, Khalil, Mirna, Féasson, Léonard, Cances, Claude, Cottalorda, Jérôme, Desguerre, Isabelle, Cuisset, Jean-Marie, Sabouraud, Pascal, Lacampagne, Alain, Chevassus, Hugues, Rivier, François, Carnac, Gilles

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Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability Autor Tran Mau-Them, Frederic, Willems, Marjolaine, Albrecht, Beate, Sanchez, Elodie, Puechberty, Jacques, Endele, Sabine, Schneider, Anouck, Ruiz Pallares, Nathalie, Missirian, Chantal, Rivier, Francois, Girard, Manon, Holder, Muriel, Manouvrier, Sylvie, Touitou, Isabelle, Lefort, Genevieve, Sarda, Pierre, Moncla, Anne, Drunat, Severine, Wieczorek, Dagmar, Genevieve, David

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Natural history of Barth syndrome: a national cohort study of 22 patients Autor Rigaud, Charlotte, Lebre, Anne-Sophie, Touraine, Renaud, Beaupain, Blandine, Ottolenghi, Chris, Chabli, Allel, Ansquer, Helene, Ozsahin, Hulya, Di Filippo, Sylvie, De Lonlay, Pascale, Borm, Betina, Rivier, Francois, Vaillant, Marie-Catherine, Mathieu-Dramard, Michèle, Goldenberg, Alice, Viot, Géraldine, Charron, Philippe, Rio, Marlene, Bonnet, Damien, Donadieu, Jean

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Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group Autor Lemattre, Camille, Imbert-Bouteille, Marion, Gatinois, Vincent, Benit, Paule, Sanchez, Elodie, Guignard, Thomas, Tran Mau-Them, Frédéric, Haquet, Emmanuelle, Rivier, François, Carme, Emilie, Roubertie, Agathe, Boland, Anne, Lechner, Doris, Meyer, Vincent, Thevenon, Julien, Duffourd, Yannis, Rivière, Jean-Baptiste, Deleuze, Jean-François, Wells, Constance, Molinari, Florence, Rustin, Pierre, Blanchet, Patricia, Geneviève, David

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Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females Autor Depienne, Christel, Bouteiller, Delphine, Keren, Boris, Cheuret, Emmanuel, Poirier, Karine, Trouillard, Oriane, Benyahia, Baya, Quelin, Chloé, Carpentier, Wassila, Julia, Sophie, Afenjar, Alexandra, Gautier, Agnès, Rivier, François, Meyer, Sophie, Berquin, Patrick, Hélias, Marie, Py, Isabelle, Rivera, Serge, Bahi-Buisson, Nadia, Gourfinkel-An, Isabelle, Cazeneuve, Cécile, Ruberg, Merle, Brice, Alexis, Nabbout, Rima, LeGuern, Eric

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Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females Autor Depienne, Christel, Bouteiller, Delphine, Keren, Boris, Cheuret, Emmanuel, Poirier, Karine, Trouillard, Oriane, Benyahia, Baya, Quelin, Chloé, Carpentier, Wassila, Julia, Sophie, Afenjar, Alexandra, Gautier, Agnès, Rivier, François, Meyer, Sophie, Berquin, Patrick, Hélias, Marie, Py, Isabelle, Rivera, Serge, Bahi-Buisson, Nadia, Gourfinkel-An, Isabelle, Cazeneuve, Cécile, Ruberg, Merle, Brice, Alexis, Nabbout, Rima, LeGuern, Eric

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Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females Autor Depienne, Christel, Trouillard, Oriane, Bouteiller, Delphine, Gourfinkel-An, Isabelle, Poirier, Karine, Rivier, François, Berquin, Patrick, Nabbout, Rima, Chaigne, Denys, Steschenko, Dominique, Gautier, Agnès, Hoffman-Zacharska, Dorota, Lannuzel, Annie, Lackmy-Port-Lis, Marilyn, Maurey, Hélène, Dusser, Anne, Bru, Marie, Gilbert-Dussardier, Brigitte, Roubertie, Agathe, Kaminska, Anna, Whalen, Sandra, Mignot, Cyril, Baulac, Stéphanie, Lesca, Gaetan, Arzimanoglou, Alexis, LeGuern, Eric

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