Hasil Pencarian - Isabelle Desguerre

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  1. 1
    Unilateral predominance of abnormal movements: A characteristic feature of the pediatric anti-NMDA receptor encephalitis?

    Unilateral predominance of abnormal movements: A characteristic feature of the pediatric anti-NMDA receptor encephalitis? oleh Vanessa Benjumea-Cuartas, Monika Eisermann, Hina Simonnet, Marie Hully, Rima Nabbout, Isabelle Desguerre, Anna Kaminska

    Diterbitkan 2017-01-01
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  2. 2
    Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood

    Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood oleh Rocio Garcia‐Uzquiano, Giulia Barcia, Emma Losito, Nicole Chemaly, Anna Kaminska, Isabelle Desguerre, Thomas Blauwblomme, Nathalie Boddaert, Rima Nabbout

    Diterbitkan 2024-08-01
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  3. 3
    Derivation and Characterization of Immortalized Human Muscle Satellite Cell Clones from Muscular Dystrophy Patients and Healthy Individuals

    Derivation and Characterization of Immortalized Human Muscle Satellite Cell Clones from Muscular Dystrophy Patients and Healthy Individuals oleh Jimmy Massenet, Cyril Gitiaux, Mélanie Magnan, Sylvain Cuvellier, Arnaud Hubas, Patrick Nusbaum, F Jeffrey Dilworth, Isabelle Desguerre, Bénédicte Chazaud

    Diterbitkan 2020-07-01
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  4. 4
    Mutations in the telomere capping complex in bone marrow failure and related syndromes

    Mutations in the telomere capping complex in bone marrow failure and related syndromes oleh Amanda J. Walne, Tanya Bhagat, Michael Kirwan, Cyril Gitiaux, Isabelle Desguerre, Norma Leonard, Elena Nogales, Tom Vulliamy, Inderjeet S. Dokal

    Diterbitkan 2013-03-01
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  5. 5
    Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1

    Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1 oleh Sophie Boursange, Sophie Boursange, Sophie Boursange, Marco Araneda, Caroline Stalens, Isabelle Desguerre, Isabelle Desguerre, Isabelle Desguerre, Christine Barnerias, Christine Barnerias, Christine Barnerias, Marie-Christine Nougues, Marie-Christine Nougues, Marie-Christine Nougues, Arnaud Isapof, Arnaud Isapof, Arnaud Isapof, Susana Quijano-Roy, Susana Quijano-Roy, Susana Quijano-Roy, Nadia Blu Genestine, Laetitia Ouillade, Maripaz Martinez Jalilie, Claudia Castiglioni, Odile Boespflug-Tanguy, Odile Boespflug-Tanguy, Odile Boespflug-Tanguy, Odile Boespflug-Tanguy, Marcela Gargiulo, Marcela Gargiulo, The SMAPAR Study Group

    Diterbitkan 2022-12-01
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  6. 6
    Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up.

    Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. oleh Isabelle Desguerre, Christo Christov, Michele Mayer, Reinhard Zeller, Henri-Marc Becane, Sylvie Bastuji-Garin, France Leturcq, Catherine Chiron, Jamel Chelly, Romain K Gherardi

    Diterbitkan 2009-01-01
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  7. 7
    A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia

    A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia oleh Romain Nicolle, Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc, Arnold Munnich, Christine Bole-Feysot, Valérie Malan, Barthélémy Caron, Patrick Nitschké, Isabelle Desguerre, Nathalie Boddaert, Marlène Rio, Antonio Rausell, Vincent Cantagrel

    Diterbitkan 2023-06-01
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  8. 8
    Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb

    Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb oleh Lamisse Mansour-Hendili, Lamisse Mansour-Hendili, Cyril Gitiaux, Cyril Gitiaux, Madeleine Harion, Madeleine Harion, Madeleine Harion, Céline Latouche, Bénédicte Heron, Bénédicte Heron, Tanya Stojkovic, Mélanie Rama, Thomas Smol, Thomas Smol, Anne Sophie Jourdain, Anne Sophie Jourdain, Karine Mention, Yann Nadjar, Manuel Schiff, Manuel Schiff, Manuel Schiff, Julie Lemale, Jamal Ghoumid, Jamal Ghoumid, Frédéric Gottrand, Frédéric Gottrand, Cécile Talbotec, Agnès Rötig, Agnès Rötig, Benoît Funalot, Benoît Funalot, Isabelle Desguerre, Isabelle Desguerre

    Diterbitkan 2024-01-01
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  9. 9
    AMPK Activation Regulates LTBP4-Dependent TGF-β1 Secretion by Pro-inflammatory Macrophages and Controls Fibrosis in Duchenne Muscular Dystrophy

    AMPK Activation Regulates LTBP4-Dependent TGF-β1 Secretion by Pro-inflammatory Macrophages and Controls Fibrosis in Duchenne Muscular Dystrophy oleh Gaëtan Juban, Marielle Saclier, Houda Yacoub-Youssef, Amel Kernou, Ludovic Arnold, Camille Boisson, Sabrina Ben Larbi, Mélanie Magnan, Sylvain Cuvellier, Marine Théret, Basil J. Petrof, Isabelle Desguerre, Julien Gondin, Rémi Mounier, Bénédicte Chazaud

    Diterbitkan 2018-11-01
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  10. 10
    Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification

    Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification oleh Crystal M. Proud, Eugenio Mercuri, Richard S. Finkel, Janbernd Kirschner, Darryl C. De Vivo, Francesco Muntoni, Kayoko Saito, Eduardo F. Tizzano, Isabelle Desguerre, Susana Quijano‐Roy, Kamal Benguerba, Dheeraj Raju, Eric Faulkner, Laurent Servais

    Diterbitkan 2023-11-01
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  11. 11
    MRI findings in 77 children with non-syndromic autistic disorder.

    MRI findings in 77 children with non-syndromic autistic disorder. oleh Nathalie Boddaert, Mônica Zilbovicius, Anne Philipe, Laurence Robel, Marie Bourgeois, Catherine Barthélemy, David Seidenwurm, Isabelle Meresse, Laurence Laurier, Isabelle Desguerre, Nadia Bahi-Buisson, Francis Brunelle, Arnold Munnich, Yves Samson, Marie-Christine Mouren, Nadia Chabane

    Diterbitkan 2009-01-01
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  12. 12
    Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant

    Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant oleh Ivana Dabaj, Ivana Dabaj, Ivana Dabaj, Robert Y. Carlier, Robert Y. Carlier, Klaus Dieterich, Isabelle Desguerre, Julien Faure, Norma B. Romero, Wenting Trang, Susana Quijano-Roy, Susana Quijano-Roy, Dominique P. Germain, Dominique P. Germain

    Diterbitkan 2023-03-01
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  13. 13
    Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemia

    Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemia oleh Giulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, Zahra Assouline, Alessandra Pennisi, Clothilde Ormieres, Claude Besmond, Charles-Joris Roux, Nathalie Boddaert, Isabelle Desguerre, David R. Thorburn, Drago Bratkovic, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Julie Steffann

    Diterbitkan 2020-12-01
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  14. 14
    Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients

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

    Diterbitkan 2021-11-01
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  15. 15
    Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells

    Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells oleh Nastasia Cardone, Valentina Taglietti, Serena Baratto, Kaouthar Kefi, Baptiste Periou, Ciryl Gitiaux, Christine Barnerias, Peggy Lafuste, France Leturcq Pharm, Juliette Nectoux Pharm, Chiara Panicucci, Isabelle Desguerre, Claudio Bruno, François-Jerome Authier, Chiara Fiorillo, Frederic Relaix, Edoardo Malfatti

    Diterbitkan 2023-10-01
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  16. 16
    Severe Acute Flaccid Myelitis Associated With Enterovirus in Children: Two Phenotypes for Two Evolution Profiles?

    Severe Acute Flaccid Myelitis Associated With Enterovirus in Children: Two Phenotypes for Two Evolution Profiles? oleh Melodie Aubart, Melodie Aubart, Cyril Gitiaux, Cyril Gitiaux, Charles Joris Roux, Raphael Levy, Isabelle Schuffenecker, Audrey Mirand, Nathalie Bach, Florence Moulin, Jean Bergounioux, Marianne Leruez-Ville, Flore Rozenberg, Delphine Sterlin, Lucile Musset, Denise Antona, Nathalie Boddaert, Nathalie Boddaert, Shen Ying Zhang, Manoelle Kossorotoff, Isabelle Desguerre

    Diterbitkan 2020-04-01
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  17. 17
    The Use and Outcomes of Motor Rehabilitation Services Among People With Cerebral Palsy Change Across the Lifespan

    The Use and Outcomes of Motor Rehabilitation Services Among People With Cerebral Palsy Change Across the Lifespan oleh Gwenaël Cornec, Gwenaël Cornec, Gwenaël Cornec, Sylvain Brochard, Sylvain Brochard, Sylvain Brochard, Sylvain Brochard, Gaelle Drewnowski, Isabelle Desguerre, Philippe Toullet, Audrey Fontaine, Audrey Fontaine, Yann Le Lay, Yann Le Lay, Julia Boivin, Eric Bérard, Maria Bodoria, Vincent Gautheron, Javier De la Cruz, Javier De la Cruz, Javier De la Cruz

    Diterbitkan 2022-02-01
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  18. 18
    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. oleh Andreea Mihaela Seferian, Amélie Moraux, Mélanie Annoussamy, Aurélie Canal, Valérie Decostre, Oumar Diebate, Anne-Gaëlle Le Moing, Teresa Gidaro, Nicolas Deconinck, Frauke Van Parys, Wendy Vereecke, Sylvia Wittevrongel, Michèle Mayer, Kim Maincent, Isabelle Desguerre, Christine Thémar-Noël, Jean-Marie Cuisset, Vincent Tiffreau, Severine Denis, Virginie Jousten, Susana Quijano-Roy, Thomas Voit, Jean-Yves Hogrel, Laurent Servais

    Diterbitkan 2015-01-01
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  19. 19
    Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports

    Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports oleh Marie Hully, Marie Hully, Christine Barnerias, Delphine Chabalier, Sophie Le Guen, Virginie Germa, Elodie Deladriere, Catherine Vanhulle, Jean-Marie Cuisset, Brigitte Chabrol, Claude Cances, Carole Vuillerot, Caroline Espil, Michele Mayer, Marie-Christine Nougues, Pascal Sabouraud, Jeremie Lefranc, Vincent Laugel, Francois Rivier, Ulrike Walther Louvier, Julien Durigneux, Sylvia Napuri, Catherine Sarret, Michel Renouil, Alice Masurel, Marcel-Louis Viallard, Marcel-Louis Viallard, Isabelle Desguerre

    Diterbitkan 2020-02-01
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  20. 20
    Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment

    Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three ye... oleh Isabelle Desguerre, Rémi Barrois, Frédérique Audic, Christine Barnerias, Brigitte Chabrol, Jean Baptiste Davion, Julien Durigneux, Caroline Espil-Taris, Marta Gomez-Garcia de la Banda, Marine Guichard, Arnaud Isapof, Marie Christine Nougues, Vincent Laugel, Laure Le Goff, Sandra Mercier, Anne Pervillé, Christian Richelme, Marie Thibaud, Catherine Sarret, Cyril Schweitzer, Hervé Testard, Valérie Trommsdorff, Catherine Vanhulle, Ulrike Walther-Louvier, Cécilia Altuzarra, Mondher Chouchane, Juliette Ropars, Susana Quijano-Roy, Claude Cances

    Diterbitkan 2024-09-01
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