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

المؤلفون: Peter Van den Bergh, Anders Gustavsson, Mattias Ekman, Brigitte Schlehofer, Christer Allgulander, Jim van Os, Laura Fratiglioni, Poul Jennum, Roland Simon, Lars Jacob Stovner, Tobias Kurth, Mattias Linde, Albena Jordanova, Jean-Michel Vallat, Roselind Lieb, Frank Jacobi, Fiona Norwood, Brenda Gannon, Andreas Maercker, David P.H. Jones, Hans-Christoph Steinhausen, Carlo Faravelli, Jordi Alonso, Martin Preisig, Juergen Rehm, Mikael Svensson, Jes Olesen, Luis Salvador-Carulla, Bengt Jönsson, Hans-Ulrich Wittchen, Linus Jönsson, Pieter E. Vos, R. Dodel, Martin Knapp, Amir Musayev, Beatrice Melin, Maura Pugliatti, Massimo Moscarelli, Gisela Kobelt, Weili Xu, Christina Ljungcrantz, Korinna Karampampa, Ettore Beghi

المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs School for Mental Health and Neuroscience, University of Zurich, Olesen, J

المصدر: European Neuropsychopharmacology, 21, 718-79
EUROPEAN NEUROPSYCHOPHARMACOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
European neuropsychopharmacology
European Neuropsychopharmacology, 21(10), 718-779. Elsevier
European Neuropsychopharmacology, 21, 10, pp. 718-79
European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
European Neuropsychopharmacology, Bd. 21 (2011), Nr. 10, S. 718–779, ISSN: 0924-977X
Gustavsson, A, Svensson, M, Jacobi, F, Allgulander, C, Alonso, J, Beghi, E, Dodel, R, Ekman, M, Faravelli, C, Fratiglioni, L, Gannon, B, Jones, D H, Jennum, P, Jordanova, A, Jönsson, L, Karampampa, K, Knapp, M, Kobelt, G, Kurth, T, Lieb, R, Linde, M, Ljungcrantz, C, Maercker, A, Melin, B, Moscarelli, M, Musayev, A, Norwood, F, Preisig, M, Pugliatti, M, Rehm, J, Salvador-Carulla, L, Schlehofer, B, Simon, R, Steinhausen, H-C, Stovner, L J, Vallat, J-M, den Bergh, P V, van Os, J, Vos, P, Xu, W, Wittchen, H-U, Jönsson, B, Olesen, J & on behalf of the CDBE2010 study group 2011, ' Cost of disorders of the brain in Europe 2010 ', European Neuropsychopharmacology, vol. 21, no. 10, pp. 718-779 . https://doi.org/10.1016/j.euroneuro.2011.08.008Test

مصطلحات موضوعية: Male, Total cost, Neurological disorder, Neuroinformatics [DCN 3], 2738 Psychiatry and Mental Health, Indirect costs, Cost of Illness, ddc:150, Prevalence, 2736 Pharmacology (medical), Medicine, Pharmacology (medical), Child, Aged, 80 and over, Brain Diseases, education.field_of_study, 10093 Institute of Psychology, Mental Disorders, Pharmacology. Therapy, Health Care Costs, Middle Aged, 10058 Department of Child and Adolescent Psychiatry, Europe, Psychiatry and Mental health, Eating disorders, 3004 Pharmacology, 2728 Neurology (clinical), Neurology, Child, Preschool, Female, Public Health, 2803 Biological Psychiatry, Adult, medicine.medical_specialty, Adolescent, Population, 610 Medicine & health, Prevalence of mental disorders, Humans, Prevalence, Mental disorders, Neurological disorders, Disorders of the brain, Europe, education, Psychiatry, Biological Psychiatry, Aged, Pharmacology, business.industry, Infant, Newborn, Infant, Prävalenz, Psychische Störungen, Neurologische Störungen, Gehirnerkrankungen, Europa, medicine.disease, Personality disorders, Mood disorders, 2808 Neurology, Neurology (clinical), Health Expenditures, 150 Psychology, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::183d40ed1422d3dcf9960531d3aaf331Test
https://doi.org/10.1016/j.euroneuro.2011.08.008Test

المؤلفون: Haluk Topaloglu, Els De Vriendt, Argirios Dinopoulos, Esra Battaloglu, Kim Van Hoorenbeeck, Berten Ceulemans, Vincent Timmerman, Patrick Van Bogaert, Jonathan Baets, A. Pou-Serradell, Michaela Auer-Grumbach, Albena Jordanova, Yesim Parman, Peter Van den Bergh, Ricardo E. Madrid, Andrzej Kochański, Magdalena Zimoń, Dagmara Kabzińska, K. Peeters, Laetitia Yperzeele, Geoffrey P. Miller, Gian Maria Fabrizi, Günther Bernert, Birdal Bilir, Peter De Jonghe, Ronen Spiegel, Fernand Pauly, Satu-Leena Sallinen, Tine Deconinck

المساهمون: Çocuk Sağlığı ve Hastalıkları, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: Brain, 134 (Pt 9
Brain
Brain : a journal of neurology, Vol. 134, no. 9, p. 2664-2676 (2011)

مصطلحات موضوعية: Génétique clinique, genotype-phenotype correlations, DNA Mutational Analysis, Disease, Charcot–Marie–Tooth disease, Dejerine-Sottas neuropathy, medicine.disease_cause, Bioinformatics, Cohort Studies, 0302 clinical medicine, Charcot-Marie-Tooth Disease, SH3TC2, Gene duplication, Age of Onset, Child, Genetics, 0303 health sciences, Mutation, early onset hereditary neuropathies, congenital hypomyelinating neuropathy, Dejerine–Sottas neuropathy, genotype–phenotype correlations, Middle Aged, Hypotonia, Phenotype, Child, Preschool, Hereditary Sensory and Motor Neuropathy -- genetics -- pathology -- physiopathology, medicine.symptom, Adult, Adolescent, Charcot-Marie-Tooth disease, 03 medical and health sciences, Young Adult, Neurologie, medicine, Humans, 030304 developmental biology, Aged, Genetic heterogeneity, business.industry, Infant, Original Articles, medicine.disease, Peripheral neuropathy, Charcot-Marie-Tooth Disease -- genetics -- pathology -- physiopathology, Neurology (clinical), Human medicine, Age of onset, business, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery

وصف الملف: 2 full-text file(s): application/pdf; application/pdf; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a38300dcc0daaeeed746ea51631b2759Test
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/108357Test