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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 -
2Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy
المؤلفون: Maike F. Dohrn, Matthias Vorgerd, Joachim Weis, Jan De Bleecker, Peter Van den Bergh, Kristl G. Claeys, Jörg B. Schulz, Jean-Jacques Martin, Katrin Hinderhofer, Andreas Ferbert, Christoph Röcken, J. Michael Schröder
المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie
المصدر: Journal of Neurology : official journal of the European Neurological Society, Vol. 260, no.12, p. 3093-3108 (2013)
Journal of neurologyمصطلحات موضوعية: Tafamidis, Male, Pathology, medicine.medical_specialty, endocrine system, Late onset, chemistry.chemical_compound, Medicine, Humans, Ataxic Gait, Age of Onset, Aged, Aged, 80 and over, Amyloid Neuropathies, Familial, biology, business.industry, Autosomal dominant trait, nutritional and metabolic diseases, medicine.disease, Pedigree, Amyloid Neuropathy, Transthyretin, Neurology, chemistry, biology.protein, Disease Progression, Female, Neurology (clinical), Human medicine, Age of onset, business, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfd25c49dcccba3278d8c90be0daa5f6Test
https://pubmed.ncbi.nlm.nih.gov/24101130Test -
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المؤلفون: Yusuf A. Rajabally, Peter Van den Bergh
المصدر: Presse medicale (Paris, France : 1983). 42(6 Pt 2)
مصطلحات موضوعية: medicine.medical_specialty, Nerve biopsy, biology, medicine.diagnostic_test, business.industry, Prevalence, Disease Management, Peripheral Nervous System Diseases, Polyradiculoneuropathy, General Medicine, Disease, Gold standard (test), medicine.disease, Gastroenterology, Pathophysiology, Pathogenesis, Treatment Outcome, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Internal medicine, biology.protein, Medicine, Humans, Immunotherapy, Antibody, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24adb898fff4325bd3aa1b3c2de19723Test
https://pubmed.ncbi.nlm.nih.gov/23623582Test -
4
المصدر: Electroencephalography and Clinical Neurophysiology/Electromyography and Motor Control. 97:S222-S223
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Hand function, biology, business.industry, General Neuroscience, biology.protein, Sensory neuropathy, Medicine, Neurology (clinical), Antibody, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::028f665be70285fe1c934c79aa6930f8Test
https://doi.org/10.1016/0924-980xTest(95)93266-v