Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Anne-Laure Bedat-Millet"'
Autor:
Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Anthony Behin, Elisa De La Cruz, François Boyer, Claire Lefeuvre, Marion Masingue, Louise Debergé, Armelle Finet, Mélanie Brison, Marco Spinazzi, Antoine Pegat, Sabrina Sacconi, Edoardo Malfatti, Ariane Choumert, Rémi Bellance, Anne-Laure Bedat-Millet, Léonard Feasson, Carole Vuillerot, Agnès Jacquin-Piques, Maud Michaud, Yann Pereon, Tanya Stojkovic, Pascal Laforêt, Shahram Attarian, Pascal Cintas
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered by repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had mainly involved child
Externí odkaz:
https://doaj.org/article/b995c184e3d74c469752208af81f61fa
Autor:
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
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0148264 (2016)
Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor de
Externí odkaz:
https://doaj.org/article/cf83b8ab743c4b25aa7cfa3285289205
Autor:
Snejana Jurici, Annie Laquerrière, Anne-Laure Bedat-Millet, Fabrice Jardin, Lucile Musset, Jean-Michel Vallat, Didier Hannequin, Olivier Martinaud
Publikováno v:
Case Reports in Neurology, Vol 3, Iss 3, Pp 294-300 (2011)
We report the case of a 71-year-old woman with typical signs of bulbar amyotrophic lateral sclerosis (ALS) associated with immunoglobulin M (IgM) monoclonal gammopathy and anti-MAG (myelin-associated glycoprotein) antibodies. This unusual association
Externí odkaz:
https://doaj.org/article/c87e486974c7486eb1070a852adf6b93
Autor:
John Rendu, Julien Fauré, Anne Claire Brehin, Anne-Laure Bedat-Millet, Catherine Vanhulle, Florent Marguet, Annie Laquerrière
Publikováno v:
Neuromuscular Disorders. 30:207-212
Fingerprint bodies are observed in a variety of clinical situations with no definite genetic cause identified so far. We report for the first time the association of fingerprint bodies with rods in a patient who developed a slowly progressive myopath
Autor:
Norma B. Romero, Jean-Yves Hogrel, Francois Michael Petit, Michela Bisciglia, Tanya Stojkovic, Roseline Froissart, Magali Pettazzoni, Anne Laure Bedat-Millet
Publikováno v:
Journal of the Neurological Sciences. 424:117391
Muscle phosphorylase kinase b deficiency (PhK) is a rare disorder of glycogen metabolism characterized by exercise-induced myalgia and cramps, myoglobinuria and progressive muscle weakness. PhK deficiency is due to mutations in the PHKA1 gene inherit
Autor:
Eric Saloux, Françoise Chapon, Lucie Guyant-Marechal, Philippe Merle, Maxime Maurice, Paul Milliez, Jean-Philippe Simon, Fabien Labombarda, Anne-Laure Bedat-Millet, Damien Legallois
Publikováno v:
Journal of Clinical Neuromuscular Disease
Journal of Clinical Neuromuscular Disease, Lippincott, Williams & Wilkins, 2017, 18 (4), pp.199-206. ⟨10.1097/CND.0000000000000144⟩
Journal of Clinical Neuromuscular Disease, Lippincott, Williams & Wilkins, 2017, 18 (4), pp.199-206. ⟨10.1097/CND.0000000000000144⟩
International audience; Objectives: We conducted a retrospective study to characterize the cardiac complications in patients with genetically confirmed type 1 facioscapulohumeral dystrophy. Methods: We reviewed baseline cardiac investigations, includ
Autor:
Jean-Baptiste Noury, Norma B. Romero, Tanya Stojkovic, Robert-Yves Carlier, Georges Arielle Peche, Lucie Guyant-Marechal, Anne-Laure Bedat-Millet, Léa Chiche, Johann Böhm, Edoardo Malfatti
Publikováno v:
Neuromuscular Disorders. 27:78-82
STIM1 is a reticular Ca2+ sensor composed of a luminal and a cytosolic domain. Missense mutations in the luminal domain have been associated with tubular aggregate myopathy (TAM), while cytosolic mutations can cause Stormorken syndrome, a multisystem
Autor:
Anne-Laure Bedat-Millet, Karine Viala, A. Siri, F. Bouhour, Pierre Lozeron, Saskia Bresch, C. Vial, Armelle Magot, Yann Péréon, F. Jomier, Cécile Cauquil, F. Taithe, V. Bousson, Nathalie Kubis
Publikováno v:
European journal of neurologyReferences. 27(1)
Background and purpose Hypertrophy/signal hyperintensity and/or gadolinium enhancement of plexus structures on magnetic resonance imaging (MRI) are observed in two-thirds of cases of typical chronic inflammatory demyelinating polyneuropathy (CIDP). T
Autor:
Antoine Cuvelier, Anne-Marie Guerrot, Marie-Anne Melone, Marie Netchitailo, Lucie Guyant-Maréchal, Alice Goldenberg, Maxime Patout, Sarah Grotto, Catherine Tardif, F. Portier, Anne-Laure Bedat-Millet
Publikováno v:
Noninvasive Ventilatory Support.
Background: DM1 is the most frequent adult-onset muscular dystrophy. CTG length expansion has been correlated with disease severity. Incidence of chronic respiratory failure (CRF) is unknown. The aim of this study was to assess the incidence of CRF a
Autor:
Nathalie Streichenberger, Odile Dubourg, Christophe Vial, Damien Sternberg, Christophe Vandier, Anne-Laure Bedat-Millet, Karine Auré, Anne Lombès, Emmanuel Fournier, Claude Jardel, Frédéric Bouillaud, Valerie Drouin-Garraud, Helene Gervais-Bernard, Philippe Petiot, Bertrand Fontaine, Lucie Clarysse, Pascal Laforêt
Publikováno v:
Neurology. 81:1810-1818
Objective: To report that homoplasmic deleterious mutations in the mitochondrial DNA MT-ATP6/8 genes may be responsible for acute episodes of limb weakness mimicking periodic paralysis due to channelopathies and dramatically responding to acetazolami