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المؤلفون: Catharina G. Faber, W. Ludo van der Pol, Vera Bril, Kenneth C. Gorson, Peter Van den Bergh, Sonja I. van Nes, Mayienne Bakkers, Ingemar S. J. Merkies, Michael P. Lunn, Leonard H. van den Berg, Eduardo Nobile-Orazio, Hans D. Katzberg, Anneke J. van der Kooi, Nicolette C. Notermans, Richard A. Lewis, Els K. Vanhoutte, Angelika F. Hahn, Pieter A. van Doorn, Mariëlle H J Pruppers, Jean Marc Léger, Jean Pouget, David R. Cornblath, Thomas H P Draak, Giuseppe Lauria
المصدر: Journal of the Peripheral Nervous System. 20:269-276
مصطلحات موضوعية: medicine.medical_specialty, General Neuroscience, Minimal clinically important difference, Mismatch negativity, Polyradiculoneuropathy, medicine.disease, Grip strength, medicine, Comparison study, Physical therapy, In patient, Neurology (clinical), Psychology, Polyneuropathy, Multifocal motor neuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c5c63f05a91a01f99be98de4e90023f3Test
https://doi.org/10.1111/jns.12126Test -
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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: Michael P. Lunn, Peter Van den Bergh
المصدر: Journal of the Peripheral Nervous System. 20:255-259
مصطلحات موضوعية: medicine.medical_specialty, Neuromuscular disease, Rasch model, General Neuroscience, Outcome measures, medicine.disease, Outcome (game theory), Natural history of disease, Cognitive bias, Clinical trial, Physical medicine and rehabilitation, Quality of life (healthcare), medicine, Neurology (clinical), Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b696de872b5fa5059f50120a8e0b8e8eTest
https://doi.org/10.1111/jns.12119Test -
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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: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck
المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents
المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscleمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION
وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test -
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المؤلفون: Radim Mazanec, Luciano Merlini, Eva Nelis, Peter Van den Bergh, Anne-Marie Jacobs, Andrzej Kochański, Joy Irobi, Vincent Timmerman, Dirk Fischer, Jonathan Baets, Wim Robberecht, Tine Deconinck, Albena Jordanova, Pavel Seeman, Els De Vriendt, Raul Juntas Morales, Michaela Auer-Grumbach, Zoran Mitrović, John H. J. Wokke, Ines Dierick, Vedrana Milic Rasic, A. T. J. M. Helderman-van den Enden, Peter De Jonghe
المصدر: Brain
مصطلحات موضوعية: Male, Genotype, HSP27 Heat-Shock Proteins, Mutation, Missense, Biology, Protein Serine-Threonine Kinases, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, GTP-Binding Protein gamma Subunits, medicine, Missense mutation, Humans, Heat-Shock Proteins, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Base Sequence, Genetic heterogeneity, Mosaicism, Chromosomes, Human, Pair 11, Haplotype, DNA Helicases, Spinal muscular atrophy, VAPB, medicine.disease, Multifunctional Enzymes, 3. Good health, Neoplasm Proteins, Pedigree, DCTN1, Electrophysiology, Phenotype, Haplotypes, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery, RNA Helicases, Molecular Chaperones, Distal HMN, BSCL2, HSPB1, HSPB8, SETX, Marie-Tooth-disease, amyotrophic-lateral-sclerosis, spinal muscular-atrophy, SEIP congenital lipodystrophy, familial spastic paraplegia, RNA synthetase mutations, sensory neuron diseases, HMN type-V, Silver-syndrome, electrophysiologic findings
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6e645225795d20a3d550af3d87b80dfTest
http://doc.rero.ch/record/299093/files/awn029.pdfTest -
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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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المصدر: Acta Neurologica Belgica. 117:555-557
مصطلحات موضوعية: 0301 basic medicine, Brachial Plexus Neuritis, Neuralgic amyotrophy, medicine.medical_specialty, Neurology, medicine.diagnostic_test, Gabapentin, business.industry, Magnetic resonance imaging, General Medicine, medicine.disease_cause, Hepatitis E, medicine.disease, Virology, Dermatology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Hepatitis E virus, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Neuroradiology, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2a7d34ab2842c554c496c5482953eabeTest
https://doi.org/10.1007/s13760-016-0642-1Test