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1
المؤلفون: Giuseppe Liistro, William Poncin, Gregory Reychler, Nicolas Audag, Michel Toussaint, Laure Vandervelde, Christophe Goubau, Peter Van den Bergh
المساهمون: UCL - SSS/IREC/PNEU - Pôle de Pneumologie, ORL et Dermatologie, UCL - (SLuc) Département de pédiatrie, UCL - (SLuc) Service de pneumologie
المصدر: Muscle & nerve, Vol. 64, no.3, p. 277-284 (2021)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Physiology, neuromuscular diseases, 030105 genetics & heredity, Myotonic dystrophy, Severity of Illness Index, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), Internal medicine, Surveys and Questionnaires, medicine, otorhinolaryngologic diseases, Humans, Mass Screening, In patient, Amyotrophic lateral sclerosis, Adult patients, business.industry, Medical record, screening, Sydney Swallow Questionnaire, Neuromuscular Diseases, Middle Aged, medicine.disease, Sydney swallow questionnaire, Dysphagia, oropharyngeal dysphagia, Deglutition, Female, Neurology (clinical), medicine.symptom, business, Deglutition Disorders, 030217 neurology & neurosurgery, Oropharyngeal dysphagia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ecc095dbbc63fbabac183840085373dTest
https://hdl.handle.net/2078.1/260933Test -
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المؤلفون: Joan Fabregat, Carlos Casasnovas, Richard C. Daly, Bo Göran Ericzon, Laura Lladó, John J. Poterucha, Jan Lerut, Marie Tranäng, Julie K. Heimbach, Jose Gonzalez Costello, Peter Van den Bergh, Maxime Foguenne, Adriano-Valerio Schettini, Olivier Van Caenegem
المساهمون: UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - SSS/IONS/COSY - Systems & cognitive Neuroscience, UCL - (SLuc) Service de soins intensifs, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service de neurologie
المصدر: Hepatobiliary & Pancreatic Diseases International, Vol. 20, no. 4, p. 323-329 (2021)
مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, Cardiomyopathy, Hereditary transthyretin amyloidosis, Liver transplantation, Heart transplantation, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Medicine, Humans, Prealbumin, Amyloid Neuropathies, Familial, Hepatology, biology, business.industry, Amyloidosis, Hypertrophic cardiomyopathy, Non-Val30Met mutation, Autosomal dominant trait, medicine.disease, Liver Transplantation, Transplantation, Transthyretin, Early Diagnosis, Domino liver transplantation, 030220 oncology & carcinogenesis, biology.protein, 030211 gastroenterology & hepatology, Val122del mutation, business, Cardiomyopathies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad5bee945941ae32ebbe287a31ee37fcTest
https://hdl.handle.net/2078.1/248202Test -
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المؤلفون: Michael Benatar, Bernhard Greve, Peter Kiessling, Melissa Brock, Henning Andersen, John Vissing, Peter Van den Bergh, Franz Woltering, Laura Griffin, Vera Bril
المصدر: Neurology.
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Placebo, medicine.disease, Gastroenterology, Myasthenia gravis, law.invention, Clinical trial, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, Multicenter trial, Internal medicine, Clinical endpoint, Medicine, 030212 general & internal medicine, Neurology (clinical), business, Generalized myasthenia, Adverse effect, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::587f79858e5ceb05d888b31a4529dbd2Test
https://doi.org/10.1212/wnl.0000000000011108Test -
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المؤلفون: Karin Huijben, Michèl A.A.P. Willemsen, Marina Moraitou, Elissavet Georgiadou, Mohammad Alsady, Walinka van Tol, Dirk Lefeber, Peter Van den Bergh, Helen Michelakakis, Constantinos Papadopoulos, George K. Papadimas
المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie
المصدر: Journal of Inherited Metabolic Disease, 42, 5, pp. 984-992
Journal of inherited metabolic disease, Vol. 42, no. 5, p. 984-992 (2019)
Journal of Inherited Metabolic Disease, 42, 984-992مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Biopsy, Biology, Mannosyltransferases, Muscular Dystrophies, chemistry.chemical_compound, Dolichol, Congenital Disorders of Glycosylation, All institutes and research themes of the Radboud University Medical Center, Western blot, Internal medicine, dystroglycanopathy, Genetics, medicine, Humans, Disorders of movement Radboud Institute for Molecular Life Sciences [Radboudumc 3], Child, Dystroglycans, Muscle, Skeletal, Genetics (clinical), chemistry.chemical_classification, medicine.diagnostic_test, Genetic heterogeneity, Skeletal muscle, Membrane Proteins, DPM3-CDG, Metabolism, dolichol-phosphate-mannose, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phenotype, carbohydrates (lipids), medicine.anatomical_structure, Endocrinology, chemistry, Transferrin, tissue-specific glycosylation, Mutation, Female, lipids (amino acids, peptides, and proteins), congenital disorders of glycosylation
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fae4ebf7eae1f1bd0b7a24d34ee92a6Test
https://doi.org/10.1002/jimd.12095Test -
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المؤلفون: Anneke J. van der Kooi, Peter Van den Bergh, Giuseppe Lauria, Hans D. Katzberg, Kenneth C. Gorson, Catharina G. Faber, David R. Cornblath, Ingemar S. J. Merkies, Els K. Vanhoutte, Sonja I. van Nes, Richard A. Lewis, W. Ludo van der Pol, Thomas H P Draak, Eduardo Nobile-Orazio, Pieter A. van Doorn, Vera Bril, Leonard H. van den Berg, Angelika F. Hahn, Jean Pouget, Michael P. Lunn, Jean Marc Léger, Nicolette C. Notermans
المصدر: Journal of the Peripheral Nervous System. 20:277-288
مصطلحات موضوعية: Ordinal data, medicine.medical_specialty, Rasch model, General Neuroscience, Validity, Polyradiculoneuropathy, Sensory system, medicine.disease, Developmental psychology, IgM Monoclonal Gammopathy, Internal medicine, medicine, In patient, Neurology (clinical), Psychology, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ec8cb205fc542a5473b5673c89f53586Test
https://doi.org/10.1111/jns.12127Test -
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المؤلفون: James Miller, Richard A. C. Hughes, Peter Van den Bergh, Gwendal Le Masson, Masahiro Iijima, Annie Dionne, Jérôme De Seze, Timothy Day, Norman Latov, Ewa Motta, David R. Cornblath, Alain Maertens de Noordhout, Ingemar S. J. Merkies, S. Larue, Jens Ejbye Schmidt, Jean-Marc Léger, Stanley Iyadurai, Hans-Peter Hartung, Carolyn Marie Ervin, Anthony A. Amato, Rup Tandan, Judith Spies, Krzysztof Selmaj, William Camu, Michel Melanson, Vivian E. Drory, Masahiro Mori, Eduardo Nobile-Orazio, Waldemar Fryze, Martin Merschhemke, Marinos C. Dalakas, Masayuki Baba, Martin M. Brown, James Holt, John Kelemen, Antonio Guerrero Sola, Thomas H. Brannagan, Jean Pouget, Victoria Lawson, Tomoko Okamoto, Philip Van Damme, Susumu Kusunoki, Khema Sharma, Joab Chapman, Mark Gudesblatt, Carlos Casasnovas, Vasilios K Kimiskidis, Kourosh Rezania, Gen Sobue, Leslie Roberts, Isabel Illa, Angela Genge, Rami Massie, Ivo N. van Schaik, Raffaella Fazio, Catharina G. Faber, Francesca Gallia, Michael P. Lunn, Catherine Agoropoulou
المساهمون: Centre d'Immunologie et de Maladies Infectieuses (CIMI), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Montpellier (UM), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, McGill University
المصدر: The Lancet Neurology
The Lancet Neurology, Elsevier, 2018, 17 (8), pp.689--698. ⟨10.1016/S1474-4422(18)30202-3⟩
Lancet Neurology, 17(8), 689-698. Elsevier Scienceمصطلحات موضوعية: FTY720, Male, [SDV]Life Sciences [q-bio], law.invention, Disability Evaluation, Electrocardiography, 0302 clinical medicine, Randomized controlled trial, law, Adrenal Cortex Hormones, Clinical endpoint, Medicine, Data monitoring committee, 030212 general & internal medicine, Chronic Inflammatory Demyelinating, Hand Strength, Middle Aged, Fingolimod, 3. Good health, LYMPHOCYTE, Treatment Outcome, Administration, GRIP STRENGTH, Female, Intravenous, Immunosuppressive Agents, medicine.drug, Oral, Adult, medicine.medical_specialty, Polyradiculoneuropathy, Immunoglobulins, CIDP, Placebo, 03 medical and health sciences, Double-Blind Method, Internal medicine, Fingolimod Hydrochloride, Humans, Aged, Proportional Hazards Models, NEUROPATHIES, business.industry, Interim analysis, Discontinuation, Neurology (clinical), RELAPSING MULTIPLE-SCLEROSIS, business, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22492e836639116d2d45267972e919e9Test
https://hal.archives-ouvertes.fr/hal-02317675Test -
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المؤلفون: Hans D. Katzberg, Jean Marc Léger, Kenneth C. Gorson, Eduardo Nobile-Orazio, Catharina G. Faber, Pieter A. van Doorn, Jean Pouget, Giuseppe Lauria, Ingemar S. J. Merkies, Sonja I. van Nes, Angelika F. Hahn, Anneke J. van der Kooi, W. Ludo van der Pol, Leonard H. van den Berg, Nicolette C. Notermans, Peter Van den Bergh, David R. Cornblath, Vera Bril, Els K. Vanhoutte, Thomas H P Draak, Michael P. Lunn
المساهمون: Neurology, MUMC+: DA KG Polikliniek (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, ANS - Amsterdam Neuroscience
المصدر: Neurology, 83(23), 2124-2132. Lippincott Williams & Wilkins
Neurology, 83(23), 2124-2132. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 83(23), 2124-2132. Lippincott Williams and Wilkinsمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Time Factors, Guillain-Barre Syndrome, Severity of Illness Index, New diagnosis, Polyneuropathies, Internal medicine, Gammopathy, medicine, Humans, Aged, Aged, 80 and over, Rasch model, business.industry, Minimal clinically important difference, Polyradiculoneuropathy, Middle Aged, medicine.disease, Standard error, Immunoglobulin M, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Physical therapy, Female, Neurology (clinical), sense organs, business, Inflammatory neuropathy, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b408ec3f92c81a65378b6cc3c9fbbc0fTest
https://doi.org/10.1212/wnl.0000000000001044Test -
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المؤلفون: Fabrice Michel, Cristina Domínguez-González, Gabriel Viennet, H. Orhan Akman, Johanna Nilsson, Carola Hedberg-Oldfors, Cornelia Kornblum, Aurelio Hernández-Laín, Salvatore DiMauro, Norma B. Romero, Peter Van den Bergh, Anders Oldfors, Andrew G. Engel, Edoardo Malfatti
المصدر: Annals of Neurology. 76:891-898
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Glycogenin, Skeletal muscle, Biology, Compound heterozygosity, medicine.disease, 3. Good health, Glycogen debranching enzyme, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine.anatomical_structure, Neurology, Internal medicine, medicine, biology.protein, Glycogen storage disease, Neurology (clinical), medicine.symptom, Myopathy, Glycogen synthase, GSK3B, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5cf0f6d180b7e5aae9952ad294fc083dTest
https://doi.org/10.1002/ana.24284Test -
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المؤلفون: Russell Lane, Isabelle Pénisson-Besnier, Wojtek Rakowicz, Charlotte K. Brierley, Cheryl Longman, Fiona Norwood, Andrew P. Jackson, Dieter Gläser, Matt Parton, Rumaisa Bashir, David Hilton-Jones, Debbie Hicks, Benedikt Schoser, Marcus Deschauer, Paul Maddison, John Nixon, Laura E. Rufibach, Meriel McEntagart, Isabel Illa, John McConville, Rita Barresi, John B Winer, Herbert Schreiber, Grainne S. Gorman, Laurence A. Bindoff, Christopher J Price, Hanns Lochmüller, Partha Ray, Simon Hammans, David Cottrell, Mark Roberts, Anthony H.V. Schapira, J. Hudson, Francesco Muntoni, Elizabeth Harris, Jay Panicker, Richard Walters, Ali Al-Memar, Robert G. Cooper, Esther Hwang, Sabine Krause, Pamela J. Shaw, Robert J. Swingler, Michelle Eagle, Bertold Schrank, Anna Sarkozy, Andrew W. Gibson, Maggie C. Walter, Richard E. Petty, Michael G. Hanna, Kathryn R. Wagner, Chris Turner, Peter Van den Bergh, Aijaz Khan, Geraldine Bailey, Michela Guglieri, NP Davies, Kate Bushby, Volker Straub, Jürgen Seeger, Liesbeth De Waele, Steve Laval, Douglass M. Turnbull
المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie
المصدر: Human Mutation, Vol. 34, no.8, p. 1111-1118 (2013)
Human mutation, 2013, Vol.34(8), pp.1111-1118 [Peer Reviewed Journal]
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: muscular dystrophy, Adult, Male, medicine.medical_specialty, Anoctamins, Gene mutation, Biology, ANO5, medicine.disease_cause, Exon, Sex Factors, Chloride Channels, Internal medicine, Prevalence, Genetics, medicine, Muscular dystrophy, Humans, Allele, Myopathy, Genetics (clinical), Retrospective Studies, Aged, LGMD2L, Mutation, Clinical pathology, Gender, Genetic Variation, Middle Aged, medicine.disease, Europe, Phenotype, Muscular Dystrophies, Limb-Girdle, Female, medicine.symptom, Limb-girdle muscular dystrophy
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de3e6e91bac2c99f929b8cc933a27687Test
https://doi.org/10.1002/humu.22342Test -
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المؤلفون: Luc Kevers, Philippe Hantson, Peter Van den Bergh, Nicole Fabien
المصدر: Muscle & Nerve. 41:423-426
مصطلحات موضوعية: medicine.medical_specialty, Lupus erythematosus, Guillain-Barre syndrome, Physiology, business.industry, Respiratory disease, Dysautonomia, Polyradiculoneuropathy, Chronic inflammatory demyelinating polyneuropathy, medicine.disease, Connective tissue disease, Gastroenterology, Cellular and Molecular Neuroscience, Respiratory failure, Physiology (medical), Internal medicine, Immunology, medicine, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9adb59da41213979d2ad5b4391765925Test
https://doi.org/10.1002/mus.21543Test