-
1
المؤلفون: Nicoline Voet, Lenie Van den Engel/Hoek, Philip Van der Wees, Corrie E. Erasmus, Mieke Kooi
المصدر: International Journal of Speech-Language Pathology. :1-14
مصطلحات موضوعية: Speech and Hearing, Otorhinolaryngology, Research and Theory, LPN and LVN, Language and Linguistics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3d77ec50173ce4d970fd6a77bea55411Test
https://doi.org/10.1080/17549507.2023.2181224Test -
2
المؤلفون: Karlijn Bouman, Madelief Gubbels, Frederik M.A. van den Heuvel, Jan T. Groothuis, Corrie E. Erasmus, Robin Nijveldt, Floris E.A. Udink ten Cate, Nicol C. Voermans
المصدر: Neuromuscular Disorders, 32, 8, pp. 635-642
Neuromuscular Disorders, 32, 635-642مصطلحات موضوعية: Ventricular Dysfunction, Right, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Mallory Bodies, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Muscular Dystrophies, Muscular Diseases, Scoliosis, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Humans, Laminin, Neurology (clinical), Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::953f23465e518b3e4f738b35f9027c04Test
https://doi.org/10.1016/j.nmd.2022.06.004Test -
3
المؤلفون: Anneke J. van der Kooi, Benno Küsters, Catharina G. Faber, Corien C. Verschuuren-Bemelmans, Corrie E. Erasmus, Nicol C. Voermans, Baziel G.M. van Engelen, Erik-Jan Kamsteeg, Heinz Jungbluth, Floor A. M. Duijkers, Bregje Jaeger, Meyke Schouten, Stacha F. I. Reumers, Karlijn Bouman, Maartje Pennings
المساهمون: Pediatric surgery, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), Human Genetics, Neurology, ANS - Neuroinfection & -inflammation, Paediatric Neurology, EURO-NMD
المصدر: Clinical Genetics, 100(6), 692-702. Wiley
Clinical Genetics, 100, 6, pp. 692-702
Clinical Genetics, 100(6), 692-702. Wiley-Blackwell
Clinical genetics, 100(6), 692-702. Wiley-Blackwell
Clinical Genetics, 100, 692-702
Reumers, S F I, Erasmus, C E, Bouman, K, Pennings, M, Schouten, M, Kusters, B, Duijkers, F A M, van der Kooi, A, Jaeger, B, Verschuuren-Bemelmans, C C, Faber, C G, van Engelen, B G, Kamsteeg, E J, Jungbluth, H & Voermans, N C 2021, ' Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands ', Clinical Genetics, vol. 100, no. 6, pp. 692-702 . https://doi.org/10.1111/cge.14054Testمصطلحات موضوعية: Male, Pathology, BIN1, Biopsy, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], centronuclear myopathy, Genes, X-Linked, RYR1, Medicine, Age of Onset, Child, Genetics (clinical), Netherlands, Aged, 80 and over, medicine.diagnostic_test, Histocytochemistry, CONGENITAL MYOPATHIES, Incidence, cohort, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hypotonia, Phenotype, Child, Preschool, Female, medicine.symptom, Myopathies, Structural, Congenital, Adult, medicine.medical_specialty, MTM1, Adolescent, Genotype, MYOTONIC-DYSTROPHY, DISORDERS, MYOTUBULAR MYOPATHY, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], DYNAMIN 2, Exercise intolerance, FREQUENCY, Young Adult, Genetics, Humans, Genetic Predisposition to Disease, Centronuclear myopathy, Alleles, Genetic Association Studies, Aged, Muscle biopsy, business.industry, Genetic heterogeneity, MUTATIONS, Infant, Newborn, Infant, Muscle weakness, DNM2, medicine.disease, Congenital myopathy, Cross-Sectional Studies, Amino Acid Substitution, Mutation, business, Biomarkers
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad81111a93fe40576ceea6d3ddf3370fTest
https://hdl.handle.net/2066/241356Test -
4
المؤلفون: Daniëlle K. Franken, Karlijn Bouman, Stacha F.I. Reumers, Frederik Braun, Jennifer Spillane, Maartje Pennings, Saskia L.S. Houwen, Corrie E. Erasmus, Ulrike Schara-Schmidt, Erik-Jan Kamsteeg, Heinz Jungbluth, Nicol C. Voermans
المصدر: Neurology, 99, 20, pp. E2223-E2233
Neurology, 99, E2223-E2233مصطلحات موضوعية: Male, Heterozygote, Muscle Weakness, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Medizin, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Cohort Studies, Cross-Sectional Studies, All institutes and research themes of the Radboud University Medical Center, Humans, Neurology (clinical), Myopathies, Structural, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a92747e1e2124d6b0957fcbf17a94a58Test
https://repository.ubn.ru.nl/handle/2066/285918Test -
5
المؤلفون: Koen J. A. O. Ingels, Frank W. de Jongh, Sjaak Pouwels, Godelieve W.J.A. Verhage-Damen, Thomas E. Tieman, Elijah E. Sanches, Corrie E. Erasmus, Carien H. G. Beurskens, Dirk Kunst, Stan Monstrey, Robin E. Luijmes, Scott R. Chaiet, Ietske Siemann
المصدر: Journal of Plastic, Reconstructive and Aesthetic Surgery, 73, 1434-1441
Journal of Plastic, Reconstructive and Aesthetic Surgery, 73, 8, pp. 1434-1441مصطلحات موضوعية: medicine.medical_specialty, Esthetics, media_common.quotation_subject, Emotions, Facial Paralysis, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Secretomotor, Audiology, Functional Laterality, Lateralization of brain function, 03 medical and health sciences, Dysarthria, 0302 clinical medicine, Perception, medicine, Humans, 030223 otorhinolaryngology, media_common, 0303 health sciences, Palsy, business.industry, Facial nerve, Surgery, Facial Expression, Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10], Facial Nerve, 030301 anatomy & morphology, Cerebral hemisphere, Quality of Life, medicine.symptom, business, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Facial symmetry
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88d3bf058d5d3d982ca4834ad4871c2aTest
https://hdl.handle.net/2066/225104Test -
6
المؤلفون: L. van den Engel-Hoek, M Kooi-van Es, Corrie E. Erasmus, I.J.M. de Groot, S. Houwen, Nicoline B M Voet
المصدر: Journal of Pediatric Rehabilitation Medicine, 13, 17-23
Journal of Pediatric Rehabilitation Medicine, 13, 1, pp. 17-23مصطلحات موضوعية: Male, 030506 rehabilitation, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Referral, Adolescent, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Early detection, Physical Therapy, Sports Therapy and Rehabilitation, Diagnostic accuracy, Disease, Sensitivity and Specificity, 03 medical and health sciences, Dysarthria, 0302 clinical medicine, Physicians, Surveys and Questionnaires, medicine, otorhinolaryngologic diseases, Humans, Prospective Studies, Stage (cooking), Child, Screening instrument, business.industry, Rehabilitation, Reproducibility of Results, Neuromuscular Diseases, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Dysphagia, nervous system diseases, Cross-Sectional Studies, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, 0305 other medical science, business, Deglutition Disorders, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1e08816f3e79ce011e1ebf94633933dTest
https://hdl.handle.net/2066/220765Test -
7
المؤلفون: M.A.J. van Gerven, Lenie van den Engel-Hoek, L.M. van Haaften, M. L. J. Lagarde, Corrie E. Erasmus, R.J.C. Admiraal
المصدر: Radiology and Medical Diagnostic Imaging. :1-5
مصطلحات موضوعية: Orthodontics, Facial expression, business.industry, digestive, oral, and skin physiology, 030206 dentistry, General Medicine, medicine.disease, Dysphagia, 03 medical and health sciences, 0302 clinical medicine, Swallowing, otorhinolaryngologic diseases, medicine, Breathing, medicine.symptom, Craniofacial, business, Treacher Collins syndrome, Mastication, 030217 neurology & neurosurgery, Congenital disorder
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::91b5807faa8070a43220ba2f9f2c347eTest
https://doi.org/10.31487/j.rdi.2019.03.09Test -
8
المؤلفون: null Stacha F. I. Reumers, null Corrie E. Erasmus, null Karlijn Bouman, null Maartje Pennings, null Meyke Schouten, null Benno Kusters, null Floor A. M. Duijkers, null Anneke Kooi, null Bregje Jaeger, null Corien C. Verschuuren‐Bemelmans, null Catharina G. Faber, null Baziel G. Engelen, null Erik‐Jan Kamsteeg, null Heinz Jungbluth, null Nicol C. Voermans
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f7678e0e8240418075edf3b22b59a9d8Test
https://doi.org/10.1111/cge.14054/v3/response1Test -
9
المؤلفون: George W. Padberg, Corrie E. Erasmus, Rianne J.M. Goselink, Jeffrey Statland, Nicol C. Voermans, Caroline R. van Kernebeek, Tim H. A. Schreuder, Baziel G.M. van Engelen, Silvère M. van der Maarel, Karlien Mul, Richard J.L.F. Lemmers
المصدر: Neurology, 92, 4, pp. e378-e385
Neurology, 92(4), E378-E385. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 92, e378-e385مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Hearing loss, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Blindness, Severity of Illness Index, Article, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Internal medicine, Severity of illness, Humans, Medicine, Facioscapulohumeral muscular dystrophy, Prospective Studies, 030212 general & internal medicine, Age of Onset, Muscular dystrophy, Hearing Loss, Prospective cohort study, Aged, Homeodomain Proteins, DNA Repeat Expansion, Muscle Weakness, business.industry, Muscle weakness, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Cross-Sectional Studies, Female, Neurology (clinical), medicine.symptom, Age of onset, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5edeba396c88977b372b2f9de6c3d4ceTest
https://doi.org/10.1212/wnl.0000000000006819Test -
10
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