Hasil Pencarian - Raúl Juntas

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  1. 1
    High-dose pharmaceutical grade biotin (MD1003) in amyotrophic lateral sclerosis: A pilot study

    High-dose pharmaceutical grade biotin (MD1003) in amyotrophic lateral sclerosis: A pilot study oleh Raul Juntas-Morales, Nicolas Pageot, Abdelkarim Bendarraz, Sébastien Alphandéry, Frédéric Sedel, Stéphanie Seigle, William Camu

    Diterbitkan 2020-02-01
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  2. 2
    Survey on the management of Pompe disease in routine clinical practice in Spain

    Survey on the management of Pompe disease in routine clinical practice in Spain oleh Cristina Domínguez-González, Carmina Díaz-Marín, Raúl Juntas-Morales, Andrés Nascimiento-Osorio, Alberto Rivera-Gallego, Jordi Díaz-Manera

    Diterbitkan 2022-12-01
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  3. 3
    Biofluid Biomarkers in the Prognosis of Amyotrophic Lateral Sclerosis: Recent Developments and Therapeutic Applications

    Biofluid Biomarkers in the Prognosis of Amyotrophic Lateral Sclerosis: Recent Developments and Therapeutic Applications oleh Daniel Sanchez-Tejerina, Arnau Llaurado, Javier Sotoca, Veronica Lopez-Diego, Jose M. Vidal Taboada, Maria Salvado, Raul Juntas-Morales

    Diterbitkan 2023-04-01
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  4. 4
    Low 25OH Vitamin D Blood Levels Are Independently Associated With Higher Amyotrophic Lateral Sclerosis Severity Scores: Results From a Prospective Study

    Low 25OH Vitamin D Blood Levels Are Independently Associated With Higher Amyotrophic Lateral Sclerosis Severity Scores: Results From a Prospective Study oleh Raul Juntas-Morales, Nicolas Pageot, Gregory Marin, Anne-Marie Dupuy, Sébastien Alphandery, Laura Labar, Florence Esselin, Marie Christine Picot, William Camu

    Diterbitkan 2020-05-01
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  5. 5
    The <i>Hexokinase 1</i> 5′-UTR Mutation in Charcot–Marie–Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering

    The <i>Hexokinase 1</i> 5′-UTR Mutation in Charcot–Marie–Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial... oleh Maria Ceprian, Raul Juntas-Morales, Graham Campbell, Ulrike Walther-Louvier, François Rivier, William Camu, Florence Esselin, Andoni Echaniz-Laguna, Tanya Stojkovic, Françoise Bouhour, Philippe Latour, Nicolas Tricaud

    Diterbitkan 2024-04-01
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  6. 6
    A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

    A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency oleh Aurélien Perrin, Corinne Metay, Marcello Villanova, Robert‐Yves Carlier, Elena Pegoraro, Raul Juntas Morales, Tanya Stojkovic, Isabelle Richard, Pascale Richard, Norma B. Romero, Henk Granzier, Michel Koenig, Edoardo Malfatti, Mireille Cossée

    Diterbitkan 2020-05-01
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  7. 7
    Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort

    Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort oleh Florence Esselin, Kevin Mouzat, Anne Polge, Raul Juntas-Morales, Nicolas Pageot, Elisa De la Cruz, Emilien Bernard, Emmeline Lagrange, Véronique Danel, Sébastien Alphandery, Laura Labar, Erika Nogué, Marie-Christine Picot, Serge Lumbroso, William Camu

    Diterbitkan 2020-04-01
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  8. 8
    Novel dominant distal titinopathy phenotype associated with copy number variation

    Novel dominant distal titinopathy phenotype associated with copy number variation oleh Aurélien Perrin, Raul Juntas Morales, Françoise Chapon, Corinne Thèze, Delphine Lacourt, Henri Pégeot, Emmanuelle Uro‐Coste, Diane Giovannini, Nicolas Leboucq, Martial Mallaret, Emmeline Lagrange, Valérie Rigau, Karen Gaudon, Pascale Richard, Michel Koenig, Corinne Métay, Mireille Cossée

    Diterbitkan 2021-09-01
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  9. 9
    Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

    Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy oleh Benoît Sanson, Caroline Stalens, Céline Guien, Luisa Villa, Catherine Eng, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Pascal Cintas, Guilhem Solé, Vincent Tiffreau, Andoni Echaniz-Laguna, Armelle Magot, Raul Juntas Morales, François Constant Boyer, Aleksandra Nadaj-Pakleza, Agnès Jacquin-Piques, Christophe Béroud, Sabrina Sacconi, The French FSHD registry collaboration group

    Diterbitkan 2022-03-01
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  10. 10
    Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

    Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care oleh Maude Vecten, Emmanuelle Pion, Marc Bartoli, Raul Juntas Morales, Damien Sternberg, John Rendu, Tanya Stojkovic, Cécile Acquaviva Bourdain, Corinne Métay, Isabelle Richard, Mathieu Cerino, Mathieu Milh, Emmanuelle Campana-Salort, Svetlana Gorokhova, Nicolas Levy, Xénia Latypova, Gisèle Bonne, Valérie Biancalana, François Petit, Annamaria Molon, Aurélien Perrin, Pascal Laforêt, Shahram Attarian, Martin Krahn, Mireille Cossée

    Diterbitkan 2022-07-01
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  11. 11
    Long-term safety and efficacy of zilucoplan in patients with generalized myasthenia gravis: interim analysis of the RAISE-XT open-label extension study

    Long-term safety and efficacy of zilucoplan in patients with generalized myasthenia gravis: interim analysis of the RAISE-XT open-label extension study oleh James F. Howard, Saskia Bresch, Constantine Farmakidis, Miriam Freimer, Angela Genge, Channa Hewamadduma, John Hinton, Yessar Hussain, Raul Juntas-Morales, Henry J. Kaminski, Angelina Maniaol, Renato Mantegazza, Masayuki Masuda, Richard J. Nowak, Kumaraswamy Sivakumar, Marek Śmiłowski, Kimiaki Utsugisawa, Tuan Vu, Michael D. Weiss, Małgorzata Zajda, Jos Bloemers, Babak Boroojerdi, Melissa Brock, Guillemette de la Borderie, Petra W. Duda, Mark Vanderkelen, M. Isabel Leite

    Diterbitkan 2024-04-01
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  12. 12
    Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in <i>SMN2</i>

    Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in <i>SMN2</i> oleh Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Marta Codina-Solà, Desirée Martínez-Cruz, Claudia Castiglioni, Enrico Bertini, Lorena Travaglini, José M. Millán, Elena Aller, Javier Sotoca, Raúl Juntas, Christina Engel Hoei-Hansen, Antonio Moreno-Escribano, Encarna Guillén-Navarro, Laura Costa-Comellas, Francina Munell, Susana Boronat, Ricardo Rojas-García, Mónica Povedano, Ivon Cuscó, Eduardo F. Tizzano

    Diterbitkan 2022-07-01
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