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1
المؤلفون: Inès Mademan, Lauren E. Drake, James Shorter, Kevin J. O'Donovan, Alice Flynn Ford, Andrzej Kochański, Matthew T. Wheeler, Kristof Van Schil, Nicolas Dubuisson, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Jonathan Baets, Devon Bonner, J. Paul Taylor, Peter De Jonghe, Tine Deconinck, Jacinda B. Sampson, Charlotte M. Fare, Anahit Mehrabyan, Peter Van den Bergh, Nicol C. Voermans, Dagmara Kabzińska, Lin Guo, Steven Palmer, Danique Beijer, Hong Joo Kim
المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Centre de référence neuromusculaire
المصدر: Jci Insight, 6, 14
JCI Insight, 6(14). AMER SOC CLINICAL INVESTIGATION INC
JCI Insight
JCI insight, Vol. 6, no.14, p. 1-18 (2021)
Jci Insight, 6
JCI insightمصطلحات موضوعية: Adult, Male, Heterozygote, TIA1, Heterogeneous nuclear ribonucleoprotein, Adolescent, Heterogeneous Nuclear Ribonucleoprotein A1, DNA Mutational Analysis, Biology, Whole Exome Sequencing, Muscular Atrophy, Spinal, Young Adult, Stress granule, All institutes and research themes of the Radboud University Medical Center, Exome Sequencing, medicine, Genetics, Humans, Amyotrophic lateral sclerosis, Child, Genetic Association Studies, Amyotrophic Lateral Sclerosis, RNA, Translation (biology), General Medicine, Middle Aged, medicine.disease, Cell stress, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phenotype, Stress Granules, Cell biology, Pedigree, Chemistry, RNA splicing, Mutation, Female, Human medicine, Neurological disorders, Research Article, Neuroscience
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f44f7da41fba7d5d08ec3934beb42a6Test
https://hdl.handle.net/1887/3214438Test -
2
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 -
3
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 -
4
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