المؤلفون: 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

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Spinal muscular atrophy, SMA, Multidisciplinary team meeting, Clinical decision-making, Treatment, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/b995c184e3d74c469752208af81f61faTest

المؤلفون: 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

المصدر: PLoS ONE, Vol 11, Iss 2, p e0148264 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4744025?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/cf83b8ab743c4b25aa7cfa3285289205Test

المؤلفون: Snejana Jurici, Annie Laquerrière, Anne-Laure Bedat-Millet, Fabrice Jardin, Lucile Musset, Jean-Michel Vallat, Didier Hannequin, Olivier Martinaud

المصدر: Case Reports in Neurology, Vol 3, Iss 3, Pp 294-300 (2011)

مصطلحات موضوعية: Amyotrophic lateral sclerosis, Anti-MAG, Waldenström macroglobulinemia, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.karger.com/Article/FullText/335004Test; https://doaj.org/toc/1662-680XTest

الوصول الحر: https://doaj.org/article/c87e486974c7486eb1070a852adf6b93Test

المؤلفون: John Rendu, Julien Fauré, Anne Claire Brehin, Anne-Laure Bedat-Millet, Catherine Vanhulle, Florent Marguet, Annie Laquerrière

المصدر: Neuromuscular Disorders. 30:207-212

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, medicine.diagnostic_test, Early death, Fingerprint bodies, Biology, medicine.disease, Phenotype, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Nemaline myopathy, Neurology, Pediatrics, Perinatology and Child Health, Biopsy, medicine, Missense mutation, Neurology (clinical), medicine.symptom, Myopathy, Gene, 030217 neurology & neurosurgery, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a7fe41822934f39843626de8f3e39bb9Test
https://doi.org/10.1016/j.nmd.2019.12.005Test

المؤلفون: S. Karger Ag, Macroglobulinemia, Annie Laquerrière B, Anne-laure Bedat-millet, Fabrice Jardin, Lucile Musset F, Jean-michel Vallat G, Didier Hannequin, Olivier Martinaud A

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/7b/1c/Case_Rep_Neurol_2011_Dec_5_3(3)_294-300.tar.gz

مصطلحات موضوعية: Key Words

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.288.481Test

المؤلفون: Norma B. Romero, Jean-Yves Hogrel, Francois Michael Petit, Michela Bisciglia, Tanya Stojkovic, Roseline Froissart, Magali Pettazzoni, Anne Laure Bedat-Millet

المصدر: Journal of the Neurological Sciences. 424:117391

مصطلحات موضوعية: myalgia, medicine.medical_specialty, Phosphorylase Kinase, Exercise intolerance, medicine.disease_cause, Muscle hypertrophy, 03 medical and health sciences, Glycogen phosphorylase, 0302 clinical medicine, Muscular Diseases, Internal medicine, medicine, Humans, Cognitive Dysfunction, 030212 general & internal medicine, Phosphorylase kinase, Myopathy, Mutation, business.industry, Myoglobinuria, Glycogen Storage Disease, medicine.disease, Endocrinology, Neurology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f36600deb6646f2990944a044eecf6Test
https://doi.org/10.1016/j.jns.2021.117391Test

المؤلفون: Eric Saloux, Françoise Chapon, Lucie Guyant-Marechal, Philippe Merle, Maxime Maurice, Paul Milliez, Jean-Philippe Simon, Fabien Labombarda, Anne-Laure Bedat-Millet, Damien Legallois

المساهمون: Université de Caen Normandie (UNICAEN), Normandie Université (NU), Université de Lorraine (UL), Service de Neurologie [CHU Caen], Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Signalisation, électrophysiologie et imagerie des lésions d’ischémie-reperfusion myocardique (SEILIRM), Normandie Université (NU)-Normandie Université (NU), Service de neurologie [Rouen], CHU Rouen, CHU Amiens-Picardie, Service de cardiologie et de pathologie vasculaire [CHU Caen], Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Mobilités : Vieillissement, Pathologie, Santé (COMETE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Caen Normandie (UNICAEN)

المصدر: Journal of Clinical Neuromuscular Disease
Journal of Clinical Neuromuscular Disease, Lippincott, Williams & Wilkins, 2017, 18 (4), pp.199-206. ⟨10.1097/CND.0000000000000144⟩

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Heart Diseases, [SDV]Life Sciences [q-bio], Vital Capacity, Cardiomyopathy, [SHS.PSY]Humanities and Social Sciences/Psychology, 030204 cardiovascular system & hematology, Electrocardiography, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Forced Expiratory Volume, Internal medicine, medicine, Humans, Facioscapulohumeral muscular dystrophy, Longitudinal Studies, Muscular dystrophy, Aged, Retrospective Studies, Aged, 80 and over, medicine.diagnostic_test, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, Microfilament Proteins, Nuclear Proteins, RNA-Binding Proteins, Dystrophy, Retrospective cohort study, Atrial fibrillation, General Medicine, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, 3. Good health, Neurology, Heart failure, cardiovascular system, Cardiology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2da358bc00d05c0bbb5e75acb19b37bTest
https://doi.org/10.1097/cnd.0000000000000144Test

المؤلفون: 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

المصدر: Neuromuscular Disorders. 27:78-82

مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Asplenia, Pathology, Proximal muscle weakness, Migraine Disorders, Mutation, Missense, Erythrocytes, Abnormal, Exercise intolerance, Short stature, Dyslexia, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Humans, Medicine, Missense mutation, Stromal Interaction Molecule 1, Myopathy, Genetics (clinical), Muscle biopsy, medicine.diagnostic_test, business.industry, Ichthyosis, Miosis, medicine.disease, Neoplasm Proteins, 030104 developmental biology, Endocrinology, Neurology, Muscle Fatigue, Pediatrics, Perinatology and Child Health, Female, Blood Platelet Disorders, Neurology (clinical), medicine.symptom, business, Spleen, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2553a01ee45a2df7025e3ece4953be1cTest
https://doi.org/10.1016/j.nmd.2016.10.006Test

المؤلفون: 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

المصدر: European journal of neurologyReferences. 27(1)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Contrast Media, Chronic inflammatory demyelinating polyneuropathy, Gadolinium, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, Brachial Plexus, 030212 general & internal medicine, Prospective Studies, Prospective cohort study, Aged, Aged, 80 and over, Plexus, Nerve biopsy, medicine.diagnostic_test, business.industry, Electrodiagnosis, Polyradiculoneuropathy, Magnetic resonance imaging, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, Neurology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Female, Neurology (clinical), Radiology, business, 030217 neurology & neurosurgery, Lumbosacral joint

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55e9250241ceee9a8c3f95f925a946baTest
https://pubmed.ncbi.nlm.nih.gov/31348848Test

المؤلفون: 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

المصدر: Noninvasive Ventilatory Support.

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, Incidence (epidemiology), University hospital, Single Center, medicine.disease, Myotonic dystrophy, Disease severity, Internal medicine, medicine, Cardiology, Respiratory system, Muscular dystrophy, business, Chronic respiratory failure

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b178e3ae8454c60663b2d570fec0356bTest
https://doi.org/10.1183/1393003.congress-2017.pa1886Test