Хайлтын үр дүнгүүд - Jean‐Marie Cuisset

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  1. 1
    Sniff nasal inspiratory pressure in the longitudinal assessment of young Duchenne muscular dystrophy children

    Sniff nasal inspiratory pressure in the longitudinal assessment of young Duchenne muscular dystrophy children -н Véronique Nève, Jean‐Marie Cuisset, Jean‐Louis Edmé, Alain Carpentier, Michael Howsam, Olivier Leclerc, Régis Matran

    Хэвлэсэн 2012
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    Artigo
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  2. 2
    Natural evolution of weight status in Duchenne muscular dystrophy: a retrospective audit

    Natural evolution of weight status in Duchenne muscular dystrophy: a retrospective audit -н L. Martigne, Julia Salleron, M. Mayer, Jean‐Marie Cuisset, Alain Carpentier, Véronique Nève, V. Tiffreau, D. Guimber, Frédèric Gottrand

    Хэвлэсэн 2011
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    Artigo
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  3. 3
    Comparison of seizure reduction and serum fatty acid levels after receiving the ketogenic and modified Atkins diet

    Comparison of seizure reduction and serum fatty acid levels after receiving the ketogenic and modified Atkins diet -н Natacha Porta, Louis Vallée, Elisabeth Boutry, Monique Fontaine, Anne‐Frédérique Dessein, Sylvie Joriot, Jean‐Marie Cuisset, J. Cuvellier, Stéphane Auvin

    Хэвлэсэн 2009
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    Artigo
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  4. 4
    Guillain-Barre Syndrome, Influenzalike Illnesses, and Influenza Vaccination During Seasons With and Without Circulating A/H1N1 Viruses

    Guillain-Barre Syndrome, Influenzalike Illnesses, and Influenza Vaccination During Seasons With and Without Circulating A/H1N1 Viruses -н Lamiae Grimaldi‐Bensouda, Annick Alpérovitch, Gérard Besson, Christophe Vial, Jean‐Marie Cuisset, Caroline Papeix, O. Lyon‐Caen, Jacques Bénichou, Michel Rossignol

    Хэвлэсэн 2011
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    Artigo
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  5. 5
    Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1

    Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1 -н Marie Douniol, Aurélia Jacquette, David Cohen, Nicolas Bodeau, Linda Rachidi, Nathalie Angeard, Jean‐Marie Cuisset, Louis Vallée, B. Eymard, Monique Plaza, Delphine Héron, Jean-Marc Guilé

    Хэвлэсэн 2012
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    Revisão
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  6. 6
    New <i>POMT2</i> mutations causing congenital muscular dystrophy

    New <i>POMT2</i> mutations causing congenital muscular dystrophy -н Akiko Yanagisawa, C Bouchet, Peter Van den Bergh, Jean‐Marie Cuisset, Louis Viollet, France Leturcq, Norma B. Romero, Susana Quijano‐Roy, Michel Fardeau, Nathalie Seta, Pascale Guicheney

    Хэвлэсэн 2007
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    Artigo
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  7. 7
    Patients with Familial Partial Lipodystrophy of the Dunnigan Type Due to a<i>LMNA</i>R482W Mutation Show Muscular and Cardiac Abnormalities

    Patients with Familial Partial Lipodystrophy of the Dunnigan Type Due to a<i>LMNA</i>R482W Mutation Show Muscular and Cardiac Abnormalities -н Marie‐Christine Vantyghem, P. Pigny, C. A. Maurage, Nathalie Rouaix‐Emery, Tanya Stojkovic, Jean‐Marie Cuisset, A Millaire, Olivier Lascols, Patrick Vermersch, Jean-Louis Wémeau, Jacqueline Capeau, Corinne Vigouroux

    Хэвлэсэн 2004
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    Artigo
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  8. 8
    Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

    Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C -н Bénédicte Héron, Vassili Valayannopoulos, Julien Baruteau, B. Chabrol, Hélène Ogier, Philippe Latour, Dries Dobbelaere, Didier Eyer, F. Labarthe, Hélène Maurey, Jean‐Marie Cuisset, Thierry de Villemeur, Frédéric Sedel, Marie T. Vanier

    Хэвлэсэн 2012
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    Artigo
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  9. 9
    Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial

    Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 t... -н Gunnar Buyse, Thomas Voït, Ulrike Schara, C.S.M. Straathof, Maria Grazia D’Angelo, G. Bernert, Jean-Marie Cuisset, Richard S. Finkel, Nathalie Goemans, Craig M. McDonald, Christian Rummey, Thomas Meier

    Хэвлэсэн 2015
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    Artigo
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  10. 10
    Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

    Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation -н Gilles Morin, Valérie Biancalana, Andoni Echaniz‐Laguna, Jean‐Baptiste Noury, Xavière Lornage, Maurizio Moggio, Michela Ripolone, Raffaella Violano, Pascale Marcorelles, Denis Maréchal, Florence Renaud, Claude‐Alain Maurage, Céline Tard, Jean‐Marie Cuisset, Jocelyn Laporte, Johann Böhm

    Хэвлэсэн 2019
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    Revisão
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  11. 11
    ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

    ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan -н Isabelle Gerin, Benoît Ury, Isabelle Breloy, C. Bouchet-Séraphin, Jennifer Bolsée, Mathias Halbout, Julie Graff, Didier Vertommen, Giulio G. Muccioli, Nathalie Seta, Jean‐Marie Cuisset, Ivana Dabaj, Susana Quijano‐Roy, Ammi Grahn, Emile Van Schaftingen, Guido T. Bommer

    Хэвлэсэн 2016
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    Artigo
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  12. 12
    Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

    Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy -н Gunnar Buyse, Thomas Voït, Ulrike Schara, C.S.M. Straathof, Maria Grazia D’Angelo, G. Bernert, Jean‐Marie Cuisset, Richard S. Finkel, Nathalie Goemans, Christian Rummey, Mika Leinonen, Oscar H. Mayer, Paolo Spagnolo, Thomas Meier, Craig M. McDonald

    Хэвлэсэн 2016
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    Artigo
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  13. 13
    Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

    Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases -н Caroline Schluth–Bolard, Bruno Delobel, Damien Sanlaville, Odile Boute, Jean‐Marie Cuisset, Sylvie Sukno, Audrey Labalme, Bénédicte Duban‐Bedu, Ghislaine Plessis, Sylvie Jaillard, Christèle Dubourg, Cathérine Henry, Josette Lucas, Sylvie Odent, Laurent Pasquier, Henri Copin, Philippe Latour, Marie‐Pierre Cordier, Gwenaël Nadeau, Marianne Till, Patrick Edery, Joris Andrieux

    Хэвлэсэн 2009
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    Artigo
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  14. 14
    Upper Limb Evaluation and One-Year Follow Up of Non-Ambulant Patients with Spinal Muscular Atrophy: An Observational Multicenter Trial

    Upper Limb Evaluation and One-Year Follow Up of Non-Ambulant Patients with Spinal Muscular Atrophy: An Observational Multicenter Trial -н A. Seferian, A. Moraux, Aurélie Canal, V. Decostre, Oumar Diebate, A.G. Le Moing, Teresa Gidaro, Nicolas Deconinck, F. Van Parys, W. Vereecke, Sylvia Wittevrongel, M. Annoussamy, M. Mayer, Kim Maincent, Jean‐Marie Cuisset, V. Tiffreau, Séverine Denis, Virginie Jousten, Susana Quijano-Roy, Thomas Voit, Jean‐Yves Hogrel, Laurent Servais

    Хэвлэсэн 2015
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    Artigo
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  15. 15
    Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study

    Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study -н A. Chabanon, A. Seferian, Aurore Daron, Yann Péréon, C. Cancès, Carole Vuillerot, Liesbeth De Waele, Jean‐Marie Cuisset, Vincent Laugel, Ulrike Schara, Teresa Gidaro, Stéphanie Gilabert, Jean‐Yves Hogrel, Pierre‐Yves Baudin, Pierre G. Carlier, Emmanuel Fournier, Linda Lowes, Nicole Hellbach, Timothy J. Seabrook, Elie Toledano, M. Annoussamy, Laurent Servais

    Хэвлэсэн 2018
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    Artigo
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  16. 16
    Upper Limb Strength and Function Changes during a One-Year Follow-Up in Non-Ambulant Patients with Duchenne Muscular Dystrophy: An Observational Multicenter Trial

    Upper Limb Strength and Function Changes during a One-Year Follow-Up in Non-Ambulant Patients with Duchenne Muscular Dystrophy: An Observational Multicenter Trial -н A. Seferian, A. Moraux, M. Annoussamy, Aurélie Canal, V. Decostre, Oumar Diebate, Anne‐Gaëlle Le Moing, Teresa Gidaro, Nicolas Deconinck, F. Van Parys, W. Vereecke, Sylvia Wittevrongel, M. Mayer, Kim Maincent, Isabelle Desguerre, Christine Thémar-Noël, Jean-Marie Cuisset, V. Tiffreau, Séverine Denis, Virginie Jousten, Susana Quijano‐Roy, Thomas Voit, Jean‐Yves Hogrel, Laurent Servais

    Хэвлэсэн 2015
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    Artigo
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  17. 17
    X-linked myotubular myopathy

    X-linked myotubular myopathy -н M. Annoussamy, C. Lilien, Teresa Gidaro, E. Gargaun, V. Chë, Ulrike Schara, Andrea Gangfuß, Adele D’Amico, James J. Dowling, Basil T. Darras, Aurore Daron, Arturo Hernandez, Capucine de Lattre, Jean-Michel Arnal, M. Mayer, Jean‐Marie Cuisset, Carole Vuillerot, Stéphanie Fontaine, Rémi Bellance, Valérie Biancalana, Ana Buj-Bello, Jean‐Yves Hogrel, Hal Landy, Laurent Servais

    Хэвлэсэн 2019
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    Artigo
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  18. 18
    Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

    Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy -н Craig M. McDonald, Thomas Meier, Thomas Voït, Ulrike Schara, C.S.M. Straathof, Maria Grazia D’Angelo, G. Bernert, Jean‐Marie Cuisset, Richard S. Finkel, Nathalie Goemans, Christian Rummey, Mika Leinonen, Paolo Spagnolo, Gunnar Buyse, G. Bernert, F. Knipp, Gunnar Buyse, Nathalie Goemans, M. van den Hauwe, Thomas Voït, Valérie Doppler, Teresa Gidaro, Jean‐Marie Cuisset, Stéphanie Coopman, Ulrike Schara, S. Lutz, Janbernd Kirschner, S. Borell, Matthew J. Will, Maria Grazia D’Angelo, Erika Brighina, S. Gandossini, Ksenija Gorni, Elisa Falcier, Luisa Politano, Paola D’Ambrosio, Antonella Taglia, Jan J.G.M. Verschuuren, C.S.M. Straathof, Juan J. Vílchez, N. Muelas Gómez, Thomas Sejersen, M. Hovmöller, Pierre‐Yves Jeannet, Clemens Bloetzer, Susan T. Iannaccone, Diana Castro, G. Tennekoon, Richard S. Finkel, C. Bönnemann, Craig M. McDonald, Erik Henricson, Nanette C. Joyce, Susan Apkon, Randal Richardson

    Хэвлэсэн 2016
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    Artigo
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  19. 19
    Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy

    Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy -н Wenshu XiangWei, Varun Kannan, Yuchen Xu, Gabrielle J. Kosobucki, Anthony J. Schulien, Hirofumi Kusumoto, Christelle Moufawad El Achkar, Subhrajit Bhattacharya, Gaëtan Lesca, Sylvie Nguyen, Katherine L. Helbig, Jean‐Marie Cuisset, Christina Fenger, Dragan Marjanović, Elisabeth Schuler, Ye Wu, Xinhua Bao, Yuehua Zhang, Nina Dirkx, An‐Sofie Schoonjans, Steffen Syrbe, Scott J. Myers, Annapurna Poduri, Elias Aizenman, Stephen F. Traynelis, Johannes R. Lemke, Hongjie Yuan, Yuwu Jiang

    Хэвлэсэн 2019
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    Artigo
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  20. 20
    Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

    Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study -н Frédérique Audic, M. Gómez García de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, J. Durigneux, Christine Barnérias, Arnaud Isapof, Jean‐Marie Cuisset, Claude Cancès, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil‐Taris, Ulrike Walther‐Louvier, Pascal Sabouraud, Mondher Chouchane, Catherine Vanhulle, Valérie Trommsdorff, Anne Pervillé, Hervé Testard, Emmanuelle Lagrue, Catherine Sarret, Anne-Laude Avice, P. Bèze-Beyrie, Vanessa Pauly, Susana Quijano‐Roy, B. Chabrol, Isabelle Desguerre

    Хэвлэсэн 2020
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    Artigo
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