Resultados de procura - Guilhem Solé
- Mostrando 1 - 9 Resultados de 9
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Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant por Chloé Angelini, Julien Van‐Gils, Antoine Bigourdan, Pierre‐Simon Jouk, Didier Lacombe, Patrice Ménégon, Sébastien Moutton, Florence Riant, Guilhem Solé, Elisabeth Tournier‐Lasserve, Aurélien Trimouille, Marie Vincent, Cyril Goizet
Publicado 2018Artigo -
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Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network por 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
Publicado 2020Artigo -
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Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome por Paquita Nurden, Najet Debili, Isabelle Coupry, Marijke Bryckaert, Ibtissam Youlyouz‐Marfak, Guilhem Solé, Anne-Cécile Pons, Eliane Berrou, Frédéric Adam, Alexandre Kauskot, Jean‐Marie Daniel Lamazière, Philippe Rameau, Patricia Fergelot, Caroline Rooryck, Dorothée Cailley, Benoı̂t Arveiler, Didier Lacombe, William Vainchenker, Alan T. Nurden, Cyril Goizet
Publicado 2011Artigo -
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Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy por Stephan Klebe, Christel Depienne, S. Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fédirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco, Hélène Dollfus, Patrick F. Chinnery, Cecilia Mancini, Xavier Ferrer, Guilhem Solé, A. Destée, Jean-Michel Mayer, Bertrand Fontaine, de Sèze, Michel Clanet, Elisabeth Ollagnon, Philippe Busson, Cécile Cazeneuve, Giovanni Stévanin, Josseline Kaplan, Jean‐Michel Rozet, Alexis Brice, Alexandra Dürr
Publicado 2012Artigo -
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REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction por Cyril Goizet, Christel Depienne, Giovanni Bénard, Amir Boukhris, Emeline Mundwiller, Guilhem Solé, Isabelle Coupry, Julie Pilliod, Marie‐Laure Martin‐Négrier, Estelle Fédirko, Sylvie Forlani, Cécile Cazeneuve, Didier Hannequin, Perrine Charles, Imed Feki, Jean‐François Pinel, Anne-Marie Ouvrard-Hernandez, Stanislas Lyonnet, Elisabeth Ollagnon‐Roman, Jacqueline Yaouanq, Annick Toutain, Christelle Dussert, Bertrand Fontaine, Eric LeGuern, Didier Lacombe, Alexandra Dürr, Rodrigue Rossignol, Alexis Brice, Giovanni Stévanin
Publicado 2011Artigo -
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Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis por Guilhem Solé, Stéphane Mathis, Diane Friedman, Emmanuelle Salort‐Campana, Céline Tard, Françoise Bouhour, Armelle Magot, Djillali Annane, Bernard Clair, Gwendal Le Masson, Antoine Soulages, Fanny Duval, Louis Carla, Marie‐Hélène Violleau, Tiphaine Saulnier, Sandrine Ségovia-Kueny, Léa Kern, Jean‐Christophe Antoine, Guillemette Beaudonnet, Frédérique Audic, Laurent Kremer, Jean‐Baptiste Chanson, Aleksandra Nadaj‐Pakleza, Tanya Stojkovic, Pascal Cintas, Marco Spinazzi, Alexandra Foubert‐Samier, Shahram Attarian
Publicado 2021Artigo -
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Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study por Céline Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne‐Laure Bédat‐Millet, Anthony Béhin, Rémi Bellance, Françoise Bouhour, Célia Boutte, F. Boyer, Emmanuelle Salort‐Campana, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valérie Drouin‐Garraud, Xavier Ferrer, H. Gervais-Bernard, Karima Ghorab, Pascal Laforêt, Armelle Magot, Laurent Magy, Dominique Ménard, Marie-Christine Minot, Aleksandra Nadaj‐Pakleza, Sybille Pellieux, Yann Péréon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Solé, Tanya Stojkovich, V. Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K. Gherardi, B. Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez
Publicado 2016Artigo -
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies por Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, Frédéric Anselme, Thomas Gossios, Neal K. Lakdawala, Caroline Stalens, Frédéric Sacher, Dominique Babuty, Jean‐Noël Trochu, Ghassan Moubarak, Kostantinos Savvatis, Raphaël Porcher, Pascal Laforêt, Abdallah Fayssoil, Éloi Marijon, Tanya Stojkovic, Anthony Béhin, Sarah Léonard-Louis, Guilhem Solé, Fabien Labombarda, Pascale Richard, Corinne Métay, Susana Quijano-Roy, Ivana Dabaj, Didier Klug, Marie‐Christine Vantyghem, Philippe Chevalier, Pı̈erre Ambrosi, Emmanuelle Salort, Nicolas Sadoul, Xavier Waintraub, Khadija Chikhaoui, Philippe Mabo, Nicolas Combes, Philippe Maury, Jean‐Marc Sellal, Usha B. Tedrow, Jonathan M. Kalman, Jitendra K. Vohra, Alexander F.A. Androulakis, Katja Zeppenfeld, T. Thompson, Christine Barnérias, Henri-Marc Bécane, Éric Bieth, Franck Boccara, Damien Bonnet, Françoise Bouhour, Stéphane Boulé, Anne‐Claire Bréhin, Françoise Chapon, Pascal Cintas, Jean‐Marie Cuisset, Jean‐Marc Davy, Annachiara De Sandre‐Giovannoli, Florence Démurger, Isabelle Desguerre, Klaus Dieterich, Julien Durigneux, Andoni Echaniz‐Laguna, Romain Eschalier, Ana Ferreiro, Xavier Ferrer, Christine Francannet, Mélanie Fradin, Bénédicte Gaborit, Arnaud Gay, Albert Hagège, Arnaud Isapof, Isabelle Jéru, Raúl Juntas Morales, Emmanuelle Lagrue, Nicolas Lamblin, Olivier Lascols, Vincent Laugel, Arnaud Lazarus, France Leturcq, Nicolas Lévy, Armelle Magot, Véronique Manel, Raphaël P. Martins, M. Mayer, Sandra Mercier, Christophe Meune, Maud Michaud, Marie-Christine Minot-Myhié, Antoine Muchir, Aleksandra Nadaj‐Pakleza, Yann Péréon, Philippe Petiot, Florence Petit, Julien Praline, Anne Rollin, Pascal Sabouraud, Catherine Sarret, S. Schaeffer, Frédéric Taithe, Céline Tard, V. Tiffreau
Publicado 2019Artigo
Ferramentas de procura:
Materias Relacionadas
Medicine
Biology
Internal medicine
Gene
Genetics
Phenotype
Ataxia
Disease
Immunology
Pathology
Cerebellar ataxia
Coronavirus disease 2019 (COVID-19)
Environmental health
Hereditary spastic paraplegia
Infectious disease (medical specialty)
Missense mutation
Pediatrics
Population
Psychiatry
2019-20 coronavirus outbreak
Age of onset
Antibody
Astrobiology
Atrophy
Cardiology
Cell
Cell biology
Cerebral palsy
Cohort
Cohort study