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المؤلفون: Anna Sarkozy, Erik-Jan Kamsteeg, Mark Pfuhl, Nicol C. Voermans, Martin Rees, Corrie E. Erasmus, Hülya-Sevcan Daimagüler, Steven A. Moore, Rahul Phadke, Mark R. Holt, Rolf Schröder, Istvan Bodi, Carla Grosmann, Sebahattin Cirak, E. Matthews, Ay Lin Kho, Peter Van den Bergh, Christian Thiel, Shane McKee, Joel Victor Fluss, Roksana Nikoopour, Charu Deshpande, Jens Reimann, Emily C. Oates, Maria Elena Farrugia, Özkan Özdemir, Isabelle Richard, Cristina Domínguez-González, Chaminda Konersman, Ekkehard Wilichowski, Birgit Brandmeier, Atsushi Fukuzawa, Ana Ferreiro, Heinz Jungbluth, Ros Quinlivan, Sandya Tirupathi, Mathias Gautel, Gabriele Dekomien, Cheryl Longman, Miguel A Fernandez-Garcia, Francesco Muntoni, Michael G. Hanna, Elizabeth Wraige, Elke Hobbiebrunken, Sarah Grover
المساهمون: UCL - SSS/IONS - Institute of NeuroScience, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Centre de référence neuromusculaire, King‘s College London, Evelina London Children's Hospital, Guy's Hospital [London], University of Cologne, Children’s University Hospital of Geneva [Switzerland], Queen Elizabeth University Hospital (Glasgow), National Hospital for Neurology and Neurosurgery [London, UK], Great Ormond Street Hospital for Children [London] (GOSH), University College of London [London] (UCL), University of New South Wales [Sydney] (UNSW), Westmead Hospital [Sydney], University Hospital Erlangen [Germany], Universitätsklinikum Erlangen [Erlangen], University of Bonn Medical Centre [Bonn], Radboud university [Nijmegen], Rady Children's Hospital, Belfast City Hospital, Royal Belfast Hospital for Sick Children, University of Iowa [Iowa City], University of Göttingen - Georg-August-Universität Göttingen, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Généthon, Saint-Luc University Hospital [Brussels, Belgium], Hospital Universitario 12 de Octubre [Madrid], Université de Paris (UP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Charles Foix [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), King's College Hospital (KCH), MRC Centre for Neuromuscular Diseases [London, UK], University Hospital Erlangen = Uniklinikum Erlangen, Radboud University [Nijmegen], Radboud University Medical Center [Nijmegen], Gillette Children's Specialty Healthcare [St Paul], Georg-August-University = Georg-August-Universität Göttingen, Ruhr-Universität Bochum [Bochum], Université Paris Cité (UPCité), Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)
المصدر: Acta Neuropathologica, 141, 431-453
Acta Neuropathologica, Vol. 141, no. 3, p. 431-453 (2021)
Acta Neuropathologica, 141, 3, pp. 431-453
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Acta Neuropathologica, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Adolescent, Myotonia Congenita, Mutation, Missense, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Extraocular muscles, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Humans, Medicine, Missense mutation, Connectin, Child, Myopathy, Aged, Muscle contracture, Genetics, Phenocopy, Original Paper, biology, business.industry, Infant, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Congenital myopathy, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, biology.protein, Female, Titin, Neurology (clinical), medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a50b0834b2069a16869cd3b6e7cc432fTest
http://hdl.handle.net/2066/231686Test -
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المؤلفون: Aude-Marie Grapperon, Guillaume Nicolas, Peter Van den Bergh, John L. Woodard, Jean-Marc Raymackers, Claure Michel, F Piéret, Yusuf A. Rajabally, Shahram Attarian, Emilien Delmont, P. Jacquerye, Marion Brisset, Céline Redant, Vinciane Van Parijs, Julien Cassereau, Donatienne Verougstraete
المصدر: Muscle & Nerve. 58:23-28
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Disease onset, Guillain-Barre syndrome, Physiology, business.industry, Polyradiculoneuropathy, medicine.disease, Acute motor axonal neuropathy, Pathophysiology, 3. Good health, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Muscle nerve, Electrodiagnostic testing, Physiology (medical), Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::32de6d18d33b753e63b6973bc50042b4Test
https://doi.org/10.1002/mus.26056Test -
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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: 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: 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: Georges Mer, Kaori Hojo, Shana L. Merrill, Jessica Deleon, Peter Van den Bergh, Maria Victoria Botuyan, Noah Beadell, Inès Mademan, Christopher J. Klein, Gregory A. Worrell, Yanhong Wu, Henry Houlden, Nicole McGrath, Jan Senderek, Gordon Smith, Jonathan Baets, Xiaohui Duan, Mary M. Reilly, Julie Khoury, Murray Grossman, Joachim Weis, Matilde Laura, William W. Seeley, Steven S. Scherer, Peter De Jonghe, Yo Tsen Liu, Peter J. Dyck
المصدر: Brain
مصطلحات موضوعية: Adult, DNA (Cytosine-5-)-Methyltransferase 1, Male, Bioinformatics, medicine.disease_cause, environment and public health, Protein Structure, Secondary, 03 medical and health sciences, 0302 clinical medicine, Autosomal dominant cerebellar ataxia, Hereditary sensory and autonomic neuropathy, medicine, Autophagy, Humans, DNA (Cytosine-5-)-Methyltransferases, Cognitive decline, Hereditary Sensory and Autonomic Neuropathies, Cognitive deficit, Cellular localization, 030304 developmental biology, Aged, Genetics, 0303 health sciences, Mutation, Cerebellar ataxia, urogenital system, Original Articles, Middle Aged, medicine.disease, 3. Good health, Pedigree, HEK293 Cells, embryonic structures, Female, Neurology (clinical), Human medicine, medicine.symptom, Nervous System Diseases, Psychology, 030217 neurology & neurosurgery, Narcolepsy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98f4def148fad12e85799ea261ea18ddTest
https://pubmed.ncbi.nlm.nih.gov/25678562Test -
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المؤلفون: Nicol C. Voermans, Thierry Kuntzer, Michel Delforge, Marie-Christiane Vekemans, Olivier Benveniste, Monique C. Minnema, Peter Van den Bergh, Véronique Leblond, Norma B. Romero, Jan Novy, Thomas Pabst, Françoise Bouhour, Henk M. Lokhorst, Bruno Eymard, Wouter Meersseman, Baziel G.M. van Engelen, Martin Lammens
المصدر: Neurology
Neurology, 83, 23, pp. 2133-9
Voermans, Nicol C; Benveniste, Olivier; Minnema, Monique C; Lokhorst, Henk; Lammens, Martin; Meersseman, Wouter; Delforge, Michel; Kuntzer, Thierry; Novy, Jan; Pabst, Thomas; Bouhour, Françoise; Romero, Norma; Leblond, Veronique; Bergh, Peter van den; Vekemans, Marie-Christiane; Engelen, Baziel G van; Eymard, Bruno (2014). Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT. Neurology, 83(23), pp. 2133-2139. Lippincott Williams & Wilkins 10.1212/WNL.0000000000001047 <http://dx.doi.org/10.1212/WNL.0000000000001047Test>
ResearcherID
Europe PubMed Central
Neurology, 83, 2133-9مصطلحات موضوعية: Melphalan, Adult, Male, medicine.medical_specialty, Paraproteinemias, Late onset, 610 Medicine & health, Myopathies, Nemaline, Gastroenterology, Transplantation, Autologous, Autologous stem-cell transplantation, Nemaline myopathy, immune system diseases, Internal medicine, hemic and lymphatic diseases, Medicine, Humans, Age of Onset, Myopathy, Retrospective Studies, business.industry, Muscle weakness, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hematologic Response, 3. Good health, Surgery, Treatment Outcome, Female, Neurology (clinical), Human medicine, medicine.symptom, business, Case series, medicine.drug, Follow-Up Studies, Stem Cell Transplantation
وصف الملف: pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8519e93627827a67a1c17d2569a0441dTest
https://hdl.handle.net/10067/1221760151162165141Test