檢索結果 - Rivier, Francois

Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder 由 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... 由 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 由 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 由 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 由 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 由 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 由 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? 由 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 由 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! 由 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 由 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 由 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? 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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