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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
Dogan, Celine, De Antonio, Marie, Hamroun, Dalil, Varet, Hugo, Fabbro, Marianne, Rougier, Felix, Amarof, Khadija, Arne Bes, Marie-Christine, Bedat-Millet, Anne-Laure, Behin, Anthony, Bellance, Remi, Bouhour, Françoise, Boutte, Celia, Boyer, François, Campana-Salort, Emmanuelle, Chapon, Françoise, Cintas, Pascal, Desnuelle, Claude, Deschamps, Romain, Drouin-Garraud, Valerie, Ferrer, Xavier, Gervais-Bernard, Helene, Ghorab, Karima, Laforet, Pascal, Magot, Armelle, Magy, Laurent, Menard, Dominique, Minot, Marie-Christine, Nadaj-Pakleza, Aleksandra, Pellieux, Sybille, Pereon, Yann, Preudhomme, Marguerite, Pouget, Jean, Sacconi, Sabrina, Sole, Guilhem, Stojkovich, Tanya, Tiffreau, Vincent, Urtizberea, Andoni, Vial, Christophe, Zagnoli, Fabien, Caranhac, Gilbert, Bourlier, Claude, Riviere, Gerard, Geille, Alain, Gherardi, Romain K., Eymard, Bruno, Puymirat, Jack, Katsahian, Sandrine, Bassez, Guillaume
Published in PloS one (05.02.2016)
Published in PloS one (05.02.2016)
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Journal Article
Peripheral nervous system involvement accompanies central nervous system involvement in anti-glial fibrillary acidic protein (GFAP) antibody-related disease
Theuriet, Julian, Cluse, Florent, Gravier-Dumonceau, Alice, Picard, Géraldine, Closs, Sterenn, Rogemond, Véronique, Timestit, Noémie, Bouhour, Françoise, Petiot, Philippe, Davy, Vincent, Chanson, Eve, Arzalluz-Luque, Joaquín, Marignier, Romain, Honnorat, Jerome, Pegat, Antoine
Published in Journal of neurology (01.11.2023)
Published in Journal of neurology (01.11.2023)
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Journal Article
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy
Jacquier, Arnaud, Theuriet, Julian, Fontaine, Fanny, Mosbach, Valentine, Lacoste, Nicolas, Ribault, Shams, Risson, Valérie, Carras, Julien, Coudert, Laurent, Simonet, Thomas, Latour, Philippe, Stojkovic, Tanya, Piard, Juliette, Cosson, Anne, Lesca, Gaëtan, Bouhour, Françoise, Allouche, Stéphane, Puccio, Hélène, Pegat, Antoine, Schaeffer, Laurent
Published in Brain (London, England : 1878) (01.08.2023)
Published in Brain (London, England : 1878) (01.08.2023)
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Journal Article
CANOMAD: a neurological monoclonal gammopathy of clinical significance that benefits from B-cell–targeted therapies
Le Cann, Marie, Bouhour, Françoise, Viala, Karine, Simon, Laurence, Tard, Céline, Rossi, Cédric, Morel, Guillaume, Lagrange, Emmeline, Magy, Laurent, Créange, Alain, Michaud, Maud, Franques, Jérôme, Echaniz-Laguna, Andoni, Antoine, Jean-Christophe, Baron, Marine, Arnulf, Bertrand, Puma, Angela, Delmont, Emilien, Maisonobe, Thierry, Leblond, Véronique, Roos-Weil, Damien
Published in Blood (19.11.2020)
Published in Blood (19.11.2020)
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Journal Article
Electrophysiological abnormalities of the neuromuscular transmission in two patients with botulism-like syndrome following Botulinum-A muscle injections
Theuriet, Julian, Huchon, Laure, Luaute, Jacques, Vallet, Anne-Evelyne, Bouhour, Françoise, Pegat, Antoine
Published in Neurophysiologie clinique (01.07.2024)
Published in Neurophysiologie clinique (01.07.2024)
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Journal Article
Inaugural dropped head syndrome and camptocormia in inflammatory myopathies: a retrospective study
Robert, Marie, Lessard, Lola E R, Bouhour, Françoise, Petiot, Philippe, Fenouil, Tanguy, Svahn, Juliette, Fiscus, Julie, Fabien, Nicole, Perard, Laurent, Robinson, Philip, Durieu, Isabelle, Coury, Fabienne, Streichenberger, Nathalie, Hot, Arnaud, Gallay, Laure
Published in Rheumatology (Oxford, England) (01.02.2024)
Published in Rheumatology (Oxford, England) (01.02.2024)
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Journal Article
Myasthenia gravis treatment in the elderly presents with a significant iatrogenic risk: a multicentric retrospective study
Chanson, Jean-Baptiste, Bouhour, Françoise, Aubé-Nathier, Anne-Catherine, Mallaret, Martial, Vial, Christophe, Hacquard, Aurélien, Petiot, Philippe, Spinazzi, Marco, Nadaj-Pakleza, Aleksandra, Echaniz-Laguna, Andoni
Published in Journal of neurology (01.12.2023)
Published in Journal of neurology (01.12.2023)
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Journal Article
Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study
Vicart, Savine, Franques, Jérôme, Bouhour, Françoise, Magot, Armelle, Péréon, Yann, Sacconi, Sabrina, Nadaj-Pakleza, Aleksandra, Behin, Anthony, Zahr, Noël, Hézode, Marianne, Fournier, Emmanuel, Payan, Christine, Lacomblez, Lucette, Fontaine, Bertrand
Published in Neuromuscular disorders : NMD (01.11.2021)
Published in Neuromuscular disorders : NMD (01.11.2021)
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Journal Article
Comment on: Inaugural dropped head syndrome and camptocormia in inflammatory myopathies: a retrospective study: Reply
Robert, Marie, Lessard, Lola E R, Bouhour, Françoise, Petiot, Philippe, Fenouil, Tanguy, Svahn, Juliette, Fiscus, Julie, Fabien, Nicole, Perard, Laurent, Robinson, Philip, Durieu, Isabelle, Coury, Fabienne, Streichenberger, Nathalie, Hot, Arnaud, Gallay, Laure
Published in Rheumatology (Oxford, England) (02.04.2024)
Published in Rheumatology (Oxford, England) (02.04.2024)
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Journal Article
Mitochondrial disorders are associated with morphological neuromuscular junction defects
Lessard, Lola E. R., Girard, Emmanuelle, Streichenberger, Nathalie, Petiot, Philippe, Acquaviva, Cécile, Pagan, Cécile, Mulligan, Peter, Bouhour, Françoise, Schaeffer, Laurent, Jacquier, Arnaud
Published in Neuromuscular disorders : NMD (01.12.2024)
Published in Neuromuscular disorders : NMD (01.12.2024)
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Journal Article
Is the decrement pattern in myasthenia gravis due to muscle-specific kinase antibodies different to that due to acetylcholine receptor antibodies?
Pegat, Antoine, Gavoille, Antoine, Bonjour, Maxime, Cluse, Florent, Moussy, Martin, Svahn, Juliette, Kouton, Ludivine, Grapperon, Aude-Marie, Verschueren, Annie, Delmont, Emilien, Salort-Campana, Emmanuelle, Attarian, Shahram, Fortanier, Etienne, Bouhour, Françoise
Published in Neurophysiologie clinique (01.11.2025)
Published in Neurophysiologie clinique (01.11.2025)
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Journal Article
A Case Series of Unilateral Peripheral Neuropathy
Kramarz, Caroline, Masingue, Marion, Bouhour, Françoise, Vial, Christophe, Latour, Philippe, Vandendries, Christophe, Maisonobe, Thierry, Coebergh, Jan, Blake, Julian, Reilly, Mary M., Stojkovic, Tanya, Rossor, Alexander M.
Published in Journal of the peripheral nervous system (01.06.2025)
Published in Journal of the peripheral nervous system (01.06.2025)
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Journal Article
The Hexokinase 1 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
Ceprian, Maria, Juntas-Morales, Raul, Campbell, Graham, Walther-Louvier, Ulrike, Rivier, François, Camu, William, Esselin, Florence, Echaniz-Laguna, Andoni, Stojkovic, Tanya, Bouhour, Françoise, Latour, Philippe, Tricaud, Nicolas
Published in International journal of molecular sciences (15.04.2024)
Published in International journal of molecular sciences (15.04.2024)
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Journal Article
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy
Gerber, Sylvie, Lessard, Lola, Rouzier, Cécile, Ait‐el‐Mkadem Saadi, Samira, Ameli, Roxana, Thobois, Stéphane, Abouaf, Lucie, Bouhour, Françoise, Kaplan, Josseline, Putoux, Audrey, Pegat, Antoine, Rozet, Jean‐Michel
Published in EMBO molecular medicine (07.08.2023)
Published in EMBO molecular medicine (07.08.2023)
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Journal Article
Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials
Díaz-Manera, Jordi, Hughes, Derralynn, Erdem-Özdamar, Sevim, Tard, Céline, Béhin, Anthony, Bouhour, Françoise, Davison, James, Hahn, Si Houn, Haack, Kristina An, Huynh-Ba, Olivier, Periquet, Magali, Tammireddy, Swathi, Thibault, Nathan, Zhou, Tianyue, van der Ploeg, Ans T.
Published in Molecular genetics and metabolism (01.12.2024)
Published in Molecular genetics and metabolism (01.12.2024)
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Journal Article
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort
Bahout, Marie, Severa, Gianmarco, Kamoun, Emna, Bouhour, Françoise, Pegat, Antoine, Toutain, Annick, Lagrange, Emmeline, Duval, Fanny, Tard, Celine, De la Cruz, Elisa, Féasson, Léonard, Jacquin-Piques, Agnès, Richard, Pascale, Métay, Corinne, Cavalli, Michele, Romero, Norma Beatriz, Evangelista, Teresinha, Sole, Guilhem, Carlier, Robert Yves, Laforêt, Pascal, Acket, Blandine, Behin, Anthony, Fernández-Eulate, Gorka, Léonard-Louis, Sarah, Quijano-Roy, Susana, Pereon, Yann, Salort-Campana, Emmanuelle, Nadaj-Pakleza, Aleksandra, Masingue, Marion, Malfatti, Edoardo, Stojkovic, Tanya, Villar-Quiles, Rocío Nur
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2025)
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2025)
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Journal Article
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing
Theuriet, Julian, Fernandez-Eulate, Gorka, Latour, Philippe, Stojkovic, Tanya, Masingue, Marion, Vidoni, Léo, Bernard, Emilien, Jacquier, Arnaud, Schaeffer, Laurent, Salort-Campana, Emmanuelle, Chanson, Jean-Baptiste, Pakleza, Aleksandra Nadaj, Kaminsky, Anne-Laure, Svahn, Juliette, Manel, Véronique, Bouhour, Françoise, Pegat, Antoine
Published in European journal of human genetics : EJHG (01.01.2024)
Published in European journal of human genetics : EJHG (01.01.2024)
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Journal Article
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases
Pisella, Lucie Isoline, Fernandes, Sara, Solé, Guilhem, Stojkovic, Tanya, Tard, Céline, Chanson, Jean-Baptiste, Bouhour, Françoise, Salort-Campana, Emmanuelle, Beaudonnet, Guillemette, Debergé, Louise, Duval, Fanny, Grapperon, Aude-Marie, Masingue, Marion, Nadaj-Pakleza, Aleksandra, Péréon, Yann, Audic, Frédérique, Behin, Anthony, Friedman, Diane, Magot, Armelle, Noury, Jean-Baptiste, Souvannanorath, Sarah, Wahbi, Karim, Antoine, Jean-Christophe, Bigaut, Kévin, Camdessanché, Jean-Philippe, Cintas, Pascal, Debs, Rabab, Espil-Taris, Caroline, Kremer, Laurent, Kuntzer, Thierry, Laforêt, Pascal, Laugel, Vincent, Mallaret, Martial, Michaud, Maud, Nollet, Sylvain, Svahn, Juliette, Vicart, Savine, Villar-Quiles, Rocio Nur, Desguerre, Isabelle, Adams, David, Segovia-Kueny, Sandrine, Merret, Géraldine, Hammouda, Elhadi, Molon, Annamaria, Attarian, Shahram
Published in Orphanet journal of rare diseases (26.10.2021)
Published in Orphanet journal of rare diseases (26.10.2021)
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Journal Article