Search Results - Isabelle Desguerre

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  1. 1
    Skeletal Muscle Microvasculature: A Highly Dynamic Lifeline

    Skeletal Muscle Microvasculature: A Highly Dynamic Lifeline by Claire Latroche, Cyril Gitiaux, Fabrice Chrétien, Isabelle Desguerre, Rémi Mounier, Bénédicte Chazaud

    Published 2015
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  2. 2
    Endomysial Fibrosis in Duchenne Muscular Dystrophy: A Marker of Poor Outcome Associated With Macrophage Alternative Activation

    Endomysial Fibrosis in Duchenne Muscular Dystrophy: A Marker of Poor Outcome Associated With Macrophage Alternative Activation by Isabelle Desguerre, M Mayer, France Leturcq, J Barbet, Romain K. Gherardi, Christo Christov

    Published 2009
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  3. 3
    Unusual consequences of status epilepticus in Dravet syndrome

    Unusual consequences of status epilepticus in Dravet syndrome by Mathilde Chipaux, Nathalie Villeneuve, Pascal Sabouraud, Isabelle Desguerre, Nathalie Boddaert, Christel Depienne, Catherine Chiron, Olivier Dulac, Rima Nabbout

    Published 2010
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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 by A. J. Walne, Tushar D. Bhagat, M. Kirwan, Cyril Gitiaux, Isabelle Desguerre, Norma Leonard, Eva Nogales, T. Vulliamy, Inderjeet Dokal

    Published 2012
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  5. 5
    Persistent mitochondrial dysfunction in HIV-1-exposed but uninfected infants

    Persistent mitochondrial dysfunction in HIV-1-exposed but uninfected infants by Béatrice Barret, Marc Tardieu, Pierre Rustin, Catherine Lacroix, B. Chabrol, Isabelle Desguerre, Catherine Dollfus, Marie-Jeanne Mayaux, Stéphane Blanche

    Published 2003
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  6. 6
    Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy

    Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy by Elizabeth Kichula, Crystal M. Proud, Michelle A. Farrar, Jennifer M. Kwon, Kayoko Saito, Isabelle Desguerre, Hugh J. McMillan

    Published 2021
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  7. 7
    Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

    Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis by Christine Barnérias, Jean‐Marie Saudubray, Guy Touati, Pascale de Lonlay, Olivier Dulac, G Ponsot, C. Marsac, M. Brivet, Isabelle Desguerre

    Published 2009
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  8. 8
    Epilepsy in Menkes Disease: Analysis of Clinical Stages

    Epilepsy in Menkes Disease: Analysis of Clinical Stages by Nadia Bahi‐Buisson, Anna Kaminśka, Rima Nabbout, Christine Barnérias, Isabelle Desguerre, Pascale de Lonlay, M. Mayer, Perrine Plouin, Olivier Dulac, Catherine Chiron

    Published 2006
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  9. 9
    Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36

    Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36 by Behzad Moghadaszadeh, Isabelle Desguerre, Haluk Topaloğlu, Francesco Muntoni, Sylvana Pavek, Caroline A. Sewry, M. Mayer, Michel Fardeau, F.M.S. Tomé, Pascale Guicheney

    Published 1998
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  10. 10
    Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype

    Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype by Lisa Ouss, Dorothée Leunen, Jacques Laschet, Nicole Chémaly, Giulia Barcia, Emma Losito, Aveline Aouidad, Zoe Barrault, Isabelle Desguerre, Delphine Breuillard, Rima Nabbout

    Published 2018
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  11. 11
    Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy

    Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy by Yvan de Féraudy, Rabah Ben Yaou, Karim Wahbi, Caroline Stalens, Amalia Stantzou, Vincent Laugel, Isabelle Desguerre, Laurent Servais, France Leturcq, Helge Amthor

    Published 2020
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  12. 12
    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 by Isabelle Desguerre, Christo Christov, M. Mayer, Reinhard Zeller, Henri-Marc Becane, Sylvie Bastuji‐Garin, France Leturcq, Catherine Chiron, Jamel Chelly, Romain K. Gherardi

    Published 2009
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  13. 13
    Epileptic phenotypes in children with respiratory chain disorders

    Epileptic phenotypes in children with respiratory chain disorders by Sandra Sabbagh, Anne-Sophie Lèbre, Nadia Bahi‐Buisson, Pascale Delonlay, Christine Soufflet, Nathalie Boddaert, Marlène Rio, Agnès Rötig, Olivier Dulac, Arnold Münnich, Isabelle Desguerre

    Published 2010
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  14. 14
    Regional Pediatric Acute Stroke Protocol

    Regional Pediatric Acute Stroke Protocol by Laurence Tabone, Nicolas Médiamolle, Céline Bellesme, Fabrice Lesage, D. Grévent, Augustin Ozanne, Olivier Naggara, B. Husson, Isabelle Desguerre, Catherine Lamy, Christian Denier, Manoëlle Kossorotoff

    Published 2017
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  15. 15
    Severe paediatric conditions linked with EV-A71 and EV-D68, France, May to October 2016

    Severe paediatric conditions linked with EV-A71 and EV-D68, France, May to October 2016 by Denise Antona, Manoëlle Kossorotoff, Isabelle Schuffenecker, Audrey Mirand, Marianne Leruez‐Ville, Clément Bassi, Mélodie Aubart, Florence Moulin, D Lévy-Brühl, Cécile Henquell, Bruno Lina, Isabelle Desguerre

    Published 2016
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  16. 16
    CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

    CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures by Julie Mollet, Agnès Delahodde, Valérie Serre, Dominique Chrétien, Dimitri Schlemmer, Anne Lombès, Nathalie Boddaert, Isabelle Desguerre, Pascale de Lonlay, Hélène Ogier de Baulny, Arnold Münnich, Agnès Rötig

    Published 2008
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  17. 17
    Fatal thrombotic microangiopathy case following adeno-associated viral <i>SMN</i> gene therapy

    Fatal thrombotic microangiopathy case following adeno-associated viral <i>SMN</i> gene therapy by Julia Guillou, Alice de Pellegars, Florence Porcheret, Véronique Frémeaux‐Bacchi, Emma Allain‐Launay, Camille Debord, M. Denis, Yann Péréon, Christine Barnérias, Isabelle Desguerre, G. Roussey, Sandra Mercier

    Published 2022
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  18. 18
    A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

    A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy by Lam Son Nguyen, Taiane Schneider, Marlène Rio, Sébastien Moutton, Karine Siquier-Pernet, Florine Verny, Nathalie Boddaert, Isabelle Desguerre, Arnold Munich, José Luís Rosa, Valérie Cormier‐Daire, Laurence Colleaux

    Published 2015
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  19. 19
    Cellular micro-environments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors

    Cellular micro-environments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors by A. Bertrand, Simindokht Ziaei, Camille Ehret, Hélène Duchemin, Kamel Mamchaoui, Anne Bigot, M. Mayer, Susana Quijano-Roy, Isabelle Desguerre, Jeanne Lainé, Rabah Ben Yaou, Gisèle Bonne, Catherine Coirault

    Published 2014
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  20. 20
    Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network

    Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network by Guilhem Solé, Emmanuelle Salort‐Campana, Yann Péréon, Tanya Stojkovic, Karim Wahbi, Pascal Cintas, David H. Adams, Pascal Laforêt, V. Tiffreau, Isabelle Desguerre, Lucie I. Pisella, Annamaria Molon, Shahram Attarian

    Published 2020
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