Bibliotecas PUC-SP - Busca Integrada

Clinical and Molecular Landscape of ALS Patients with <i>SOD1</i> Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study

od Emilien Bernard, Antoine Pegat, Juliette Svahn, Françoise Bouhour, Pascal Leblanc, Stéphanie Millecamps, Stéphane Thobois, Claire Guissart, Serge Lumbroso, Kevin Mouzat
Wydane w International Journal of Molecular Sciences (2020-09-01)

Efficacy and Safety of Octagam® in Patients With Chronic Inflammatory Demyelinating Polyneuropathy

od Chafké Belmokhtar, Pierre Lozeron, David Adams, Jérôme Franques, Arnaud Lacour, Etienne Godet, Mathieu Bataille, Odile Dubourg, Gilles Angibaud, Emilien Delmont, Françoise Bouhour, Philippe Corcia, Jean Pouget
Wydane w Neurology and Therapy (2019-03-01)

Novel Intronic Mutation in <i>VMA21</i> Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy—Case Report

od Antoine Pegat, Nathalie Streichenberger, Nicolas Lacoste, Marc Hermier, Rita Menassa, Laurent Coudert, Julian Theuriet, Roseline Froissart, Sophie Terrone, Francoise Bouhour, Laurence Michel-Calemard, Laurent Schaeffer, Arnaud Jacquier
Wydane w Genes (2022-11-01)

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy

od Sylvie Gerber, Lola Lessard, Cécile Rouzier, Samira Ait‐el‐Mkadem Saadi, Roxana Ameli, Stéphane Thobois, Lucie Abouaf, Françoise Bouhour, Josseline Kaplan, Audrey Putoux, Antoine Pegat, Jean‐Michel Rozet
Wydane w EMBO Molecular Medicine (2023-07-01)

Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

od Emmanuelle Salort-Campana, Farzad Fatehi, Sadia Beloribi-Djefaflia, Stéphane Roche, Karine Nguyen, Rafaelle Bernard, Pascal Cintas, Guilhem Solé, Françoise Bouhour, Elisabeth Ollagnon, Sabrina Sacconi, Andoni Echaniz-Laguna, Thierry Kuntzer, Nicolas Levy, Frédérique Magdinier, Shahram Attarian
Wydane w International Journal of Molecular Sciences (2020-03-01)

Safety of Intravenous Immunoglobulin (Tegeline®), Administered at Home in Patients with Autoimmune Disease: Results of a French Study

od Eric Hachulla, Gwendal Le Masson, Guilhem Solé, Mohamed Hamidou, Claude Desnuelle, Jean-Philippe Azulay, Gérard Besson, Laure Swiader, Sébastien Abad, Jean-Christophe Antoine, Françoise Bouhour, Alain Créange, Marike Grenouillet, Laurent Magy, Sébastien Marcel, Jean-Michel Paquet, François Rouhart, François Ziegler, Stéphane Mathis, Marc Gauthier-Darnis, Sophie Puget
Wydane 2018-01-01

Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry

od Benoît Sanson, Abderhmane Slioui, Jérémy Garcia, Lori Klouvi, Julie Lejeune, Caroline Stalens, Céline Guien, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Juliette Nectoux, Sharham Attarian, Anne-Laure Bédat-Millet, Françoise Bouhour, François Constant Boyer, Jean-Baptiste Chanson, Ariane Choumert, Pascal Cintas, Elisa De La Cruz, Léonard Féasson, Maxime Fournier, Karima Ghorab, Agnès Jacquin-Piques, Pascal Laforêt, Armelle Magot, Maud Michaud, Jean-Baptiste Noury, Guilhem Solé, Marco Spinazzi, Tanya Stojkovic, Céline Tard, Luisa Villa, Christophe Béroud, Sabrina Sacconi, the French FSHD registry collaboration group
Wydane w Orphanet Journal of Rare Diseases (2025-09-01)

A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

od Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, Tanya Stojkovic, Céline Tard, Jean-Baptiste Chanson, Françoise Bouhour, Emmanuelle Salort-Campana, Guillemette Beaudonnet, Louise Debergé, Fanny Duval, Aude-Marie Grapperon, Marion Masingue, Aleksandra Nadaj-Pakleza, Yann Péréon, Frédérique Audic, Anthony Behin, Diane Friedman, Armelle Magot, Jean-Baptiste Noury, Sarah Souvannanorath, Karim Wahbi, Jean-Christophe Antoine, Kévin Bigaut, Jean-Philippe Camdessanché, Pascal Cintas, Rabab Debs, Caroline Espil-Taris, Laurent Kremer, Thierry Kuntzer, Pascal Laforêt, Vincent Laugel, Martial Mallaret, Maud Michaud, Sylvain Nollet, Juliette Svahn, Savine Vicart, Rocio Nur Villar-Quiles, Isabelle Desguerre, David Adams, Sandrine Segovia-Kueny, Géraldine Merret, Elhadi Hammouda, Annamaria Molon, Shahram Attarian
Wydane w Orphanet Journal of Rare Diseases (2021-10-01)

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

od Celine Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne-Laure Bedat-Millet, Anthony Behin, Remi Bellance, Françoise Bouhour, Celia Boutte, François Boyer, Emmanuelle Campana-Salort, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valerie Drouin-Garraud, Xavier Ferrer, Helene Gervais-Bernard, Karima Ghorab, Pascal Laforet, Armelle Magot, Laurent Magy, Dominique Menard, Marie-Christine Minot, Aleksandra Nadaj-Pakleza, Sybille Pellieux, Yann Pereon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Sole, Tanya Stojkovich, Vincent Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K Gherardi, Bruno Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez
Wydane w PLoS ONE (2016-01-01)