检索结果 - John Rendu

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  1. 1
    Ornithine Transcarbamylase – From Structure to Metabolism: An Update

    Ornithine Transcarbamylase – From Structure to Metabolism: An Update 由 Morgane Couchet, C. Breuillard, Christelle Corne, John Rendu, Béatrice Morio, Uwe Schlattner, Christophe Moinard

    出版 2021
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  2. 2
    Phospholipase A2 Receptor–Related Membranous Nephropathy and Mannan-Binding Lectin Deficiency

    Phospholipase A2 Receptor–Related Membranous Nephropathy and Mannan-Binding Lectin Deficiency 由 Stéphane Bally, Hanna Dębiec, D. Ponard, Frédérique Dijoud, John Rendu, Julien Fauré, Pierre Ronco, Chantal Dumestre‐Pérard

    出版 2016
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  3. 3
    Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age

    Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age 由 M. Bisciglia, Gianmarco Severa, Norma B. Romero, Michel Fardeau, John Rendu, Tanya Stojkovic, Pascal Laforêt, B. Eymard, Ana Ferreiro, Edoardo Malfatti, Anthony Béhin

    出版 2025
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  4. 4
    Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review

    Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review 由 Carlos A Ibarra, Helga Cristina Almeida da Silva, Nicol C. Voermans, Heinz Jungbluth, Luuk R. van den Bersselaar, John Rendu, Agnieszka Cieniewicz, Philip M. Hopkins, Sheila Riazi

    出版 2024
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  5. 5
    From lowe syndrome to Dent disease: correlations between mutations of the <i>OCRL1</i> gene and clinical and biochemical phenotypes

    From lowe syndrome to Dent disease: correlations between mutations of the <i>OCRL1</i> gene and clinical and biochemical phenotypes 由 Haifa Hichri, John Rendu, Nicole Monnier, Charles Coutton, Olivier Dorseuil, Rosa Vargas Poussou, Geneviève Baujat, Anne Blanchard, François Nobili, Bruno Ranchin, Michel Remesy, Rémi Salomon, Véronique Satre, Joël Lunardi

    出版 2010
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  6. 6
    ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

    ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies 由 Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacène, Julien Fauré, Guy Brochier, Maud Beuvin, C. Labasse, A. Madelaine, Edoardo Malfatti, Jorge A. Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lía Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma B. Romero

    出版 2019
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  7. 7
    Muscle weakness in<i>TPM3</i>-myopathy is due to reduced Ca<sup>2+</sup>-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

    Muscle weakness in<i>TPM3</i>-myopathy is due to reduced Ca<sup>2+</sup>-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres 由 Michaela Yuen, Sandra T. Cooper, Steven B. Marston, Kristen L. Nowak, Elyshia McNamara, Nancy Mokbel, Biljana Ilkovski, Gianina Ravenscroft, John Rendu, Josine M. de Winter, Lars Klinge, Alan H. Beggs, Kathryn N. North, Coen A. C. Ottenheijm, Nigel F. Clarke

    出版 2015
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  8. 8
    Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

    Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella 由 Mariem Ben Khelifa, Charles Coutton, Raoudha Zouari, Thomas Karaouzène, John Rendu, Marie Bidart, Sandra Yassine, Virginie Pierre, Julie Delaroche, Sylviane Hennebicq, Didier Grünwald, Denise Escalier, Karine Pernet-Gallay, Pierre‐Simon Jouk, Nicolas Thierry‐Mieg, Aminata Touré, Christophe Arnoult, Pierre F. Ray

    出版 2013
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  9. 9
    Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test

    Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test 由 Nathalie Roux-Buisson, Nicole Monnier, Emmanuel Sagui, Amandine Abriat, C. Brosset, David Bendahan, G. Kozak‐Ribbens, Sébastien Gazzola, Jean-Louis Quésada, Catherine Foutrier-Morello, John Rendu, D. Figarella-Branger, P Cozonne, Michel L. Aubert, L. Bourdon, Joël Lunardi, Julien Fauré

    出版 2016
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  10. 10
    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation 由 Jean‐Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Guéguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, E. Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne‐Françoise Roux, Benjamin Cogné, David Baux

    出版 2023
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  11. 11
    Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

    Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort 由 Susana Quijano‐Roy, Jana Haberlová, Claudia Castiglioni, John Vissing, Francina Munell, François Rivier, Tanya Stojkovic, Edoardo Malfatti, M. Gómez García de la Banda, Giorgio Tasca, Laura Costa-Comellas, A. Bénézit, Helge Amthor, Ivana Dabaj, Clara Gontijo Camelo, Pascal Laforêt, John Rendu, Norma B. Romero, Eliana Cavassa, Fabiana Fattori, Christophe Béroud, Jana Zídková, Nicolas Leboucq, Nicoline Løkken, Ángel Sánchez‐Montáñez, Ximena Ortega, Martin Kynčl, Corinne Métay, David Gómez‐Andrés, Robert Carlier

    出版 2021
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  12. 12
    <i>STAC3</i>variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

    <i>STAC3</i>variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility 由 Irina Zaharieva, Anna Sárközy, Pinki Munot, Adnan Manzur, Gina O’Grady, John Rendu, E. Malfatti, Helge Amthor, Laurent Servais, Jon Andoni Urtizberea, Osório Lopes Abath Neto, Edmar Zanoteli, Sandra Donkervoort, Juliet Taylor, Joanne Dixon, Gemma Poke, A. Reghan Foley, Chris Holmes, Glyn D. Williams, Muriel Holder, Sabrina W. Yum, Līvija Medne, Susana Quijano‐Roy, Norma B. Romero, Julien Fauré, Lucy Feng, Lailá Bastaki, Mark R. Davis, Rahul Phadke, Caroline A. Sewry, Carsten G. Bönnemann, Heinz Jungbluth, Christoph Bachmann, Susan Treves, Francesco Muntoni

    出版 2018
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  13. 13
    259th ENMC international workshop: Anaesthesia and neuromuscular disorders 11 December, 2020 and 28–29 May, 2021

    259th ENMC international workshop: Anaesthesia and neuromuscular disorders 11 December, 2020 and 28–29 May, 2021 由 LR van den Bersselaar, Sheila Riazi, MMJ Snoeck, Heinz Jungbluth, NC Voermans, Börge Bastian, Luuk R. van den Bersselaar, Martina C. Cornel, Óscar Díaz‐Cambronero, K. Dietrich, Charlotte van Esch, Francesca Forzano, Robyn Gillies, Anna Hellblom, Luc Heytens, Philip M. Hopkins, Stephan Johannsen, Heinz Jungbluth, Erik‐Jan Kamsteeg, Andrea Klein, Ron Litman, Nicoline Løkken, Tino Münster, Jens Reimann, John Rendu, Sheila Riazi, Henrik Rueffert, Helga Cristina Almeida da Silva, M.M.J. Snoeck, Maria Soller, Kathryn M. Stowell, Giorgio Tasca, Francis Veyckemans, Juan J. Vílchez, Nicol C. Voermans

    出版 2021
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