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.14054Test

مصطلحات 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

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: Corinne P Delsing, Corrie E. Erasmus, Stijn Bekkers, Karen van Hulst, Frank J. A. van den Hoogen

المصدر: Developmental Medicine & Child Neurology, 63, 1093-1098
Developmental Medicine & Child Neurology, 63, 9, pp. 1093-1098

مصطلحات موضوعية: Male, 030506 rehabilitation, Adolescent, Visual analogue scale, Submandibular duct, Submandibular Gland, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Pediatrics, Drooling, Injections, Cerebral palsy, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, medicine, Humans, Salivary Ducts, Botulinum Toxins, Type A, Child, Retrospective Studies, Respiratory tract infections, business.industry, Cerebral Palsy, Infant, Retrospective cohort study, Sialorrhea, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Submandibular gland, Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10], Treatment Outcome, medicine.anatomical_structure, Neurodevelopmental Disorders, Child, Preschool, Anesthesia, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, 0305 other medical science, Ligation, business, 030217 neurology & neurosurgery, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d496f4d011357fff827b61d2216e34eeTest
http://hdl.handle.net/2066/237494Test

المؤلفون: N. van Alfen, J.L.M. van Doorn, L. van den Engel-Hoek, Corrie E. Erasmus, M. L. J. Lagarde, G. Weijers

المصدر: Early Human Development, 159

مصطلحات موضوعية: Dynamic ultrasound, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Pilot Projects, ABNORMAL TONGUE, All institutes and research themes of the Radboud University Medical Center, Tongue, medicine, Humans, Ultrasound image, Ultrasonography, Orthodontics, business.industry, Ultrasound, Infant, Reproducibility of Results, Obstetrics and Gynecology, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Compression (physics), Bottle Feeding, Quantitative ultrasound, Breast Feeding, medicine.anatomical_structure, Sucking Behavior, Reference values, Pediatrics, Perinatology and Child Health, Female, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d9753e58e1bdd232d6f148c7cf7560eTest
https://doi.org/10.1016/j.earlhumdev.2021.105399Test

المؤلفون: Nicol C. Voermans, Nanna Witting, Yves Sznajer, Ingrid P.C. Krapels, Anneke J. van der Kooi, Benno Küsters, Amanda Krause, Bitten Schönewolf-Greulich, Karin Y. van Spaendonck-Zwarts, Corien C. Verschuuren-Bemelmans, Corrie E. Erasmus, Baziel G.M. van Engelen, Meyke Schouten, Suzanne C E H Sallevelt, Anneke J.A. Kievit, Rowdy Meijer, Christine E. M. de Die-Smulders, Marjolein Kriek, Daniela Q.C.M. Barge-Schaapveld, Dineke Westra, Christian Gillissen, Brian H.Y. Chung, Isabelle Maystadt, Christa de Geus, Sophelia H. S. Chan, Saskia Bulk, Bas C. Stunnenberg, Erica H. Gerkes, P. A. van der Zwaag, Magnhild Rasmussen, Maartje Pennings, Christiaan G J Saris, Erik-Jan Kamsteeg

المساهمون: Neurology, Amsterdam Neuroscience - Neuroinfection & -inflammation, Clinical Genetics, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica

المصدر: Journal of neuromuscular diseases, 6(2), 241-258. IOS Press
Journal of Neuromuscular Diseases, 6, 241-258
Journal of Neuromuscular Diseases, 6(2), 241-258. IOS Press BV
Journal of Neuromuscular Diseases, Vol. 6, no.2, p. 241-258 (2019)
Journal of Neuromuscular Diseases, 6, 2, pp. 241-258
Journal of neuromuscular diseases, 6(2), 241-258. I O S Press

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Neurology, Adolescent, Whole Exome Sequencing/methods, Neuromuscular Diseases/diagnosis, Genetic counseling, Functional testing, Population, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Muscle disorder, Bioinformatics, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, Young Adult, 0302 clinical medicine, Exome Sequencing, medicine, Humans, genetics, Preschool, education, Child, Exome sequencing, Aged, education.field_of_study, Genetic heterogeneity, business.industry, Infant, Newborn, Infant, Neuromuscular Diseases, Middle Aged, Newborn, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Neuromuscular diseases, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Child, Preschool, myopathies, Female, Neurology (clinical), Age of onset, business, exome sequencing, 030217 neurology & neurosurgery, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ba263fe5ec163190ab429e56dfc98ffTest
https://pure.amc.nl/en/publications/panelbased-exome-sequencing-for-neuromuscular-disorders-as-a-diagnostic-serviceTest(dc370bdc-e7ba-4d5a-920b-f1a625a5ece9).html

المؤلفون: Richard J.L.F. Lemmers, Thomas Theelen, Corrie E. Erasmus, Patrick J. van der Vliet, Merel Jansen, Nicol C. Voermans, Nens van Alfen, Rianne J.M. Goselink, Imelda J. M. de Groot, Baziel G.M. van Engelen, Nienke van der Stoep, Silvère M. van der Maarel, Tim H. A. Schreuder

المصدر: Annals of Neurology
Annals of Neurology, 84, 627-637
Annals of Neurology, 84, 5, pp. 627-637
Annals of Neurology, 84(5), 627-637

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Male, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genotype, Hearing loss, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Intellectual disability, medicine, Humans, Prospective Studies, Muscular dystrophy, Child, Research Articles, Subclinical infection, Netherlands, business.industry, Facial weakness, Infant, Newborn, Dystrophy, Infant, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Muscular Dystrophy, Facioscapulohumeral, nervous system diseases, Natural history, 030104 developmental biology, Cross-Sectional Studies, Phenotype, Neurology, Child, Preschool, Quality of Life, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Natural history study, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bbcd30e15f96cee7ba34f3532951156Test
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/198456Test

المؤلفون: Peter H. Jongerius, K. van Hulst, J.J.W. van der Burg, F.J.A. van den Hoogen, Corrie E. Erasmus, L. van den Engel-Hoek, Alexander C. H. Geurts, Ton Feuth

المصدر: Infant Behavior and Development, 50, 247-256
Infant Behavior and Development, 50, pp. 247-256

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Saliva, Percentile, Activities of daily living, Learning and Plasticity, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Logistic regression, Drooling, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Surveys and Questionnaires, Developmental and Educational Psychology, medicine, Humans, Netherlands, business.industry, Infant, Newborn, Construct validity, Infant, 030206 dentistry, Sialorrhea, Reference Standards, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Scale (social sciences), Child, Preschool, Cohort, Female, medicine.symptom, business, 030217 neurology & neurosurgery, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b7fc41ac09adb391fe09fc56a5a3510Test
http://hdl.handle.net/2066/187736Test

المؤلفون: Tim H. A. Schreuder, George W. Padberg, Nicol C. Voermans, Jean K. Mah, Baziel G.M. van Engelen, Rianne J.M. Goselink, Corrie E. Erasmus, Rossella Tupler, Malgorzata Dorobek, Oebele F. Brouwer, Ana Nikolic, Kees Okkersen

المصدر: Neuromuscular Disorders, 27, 12, pp. 1077-1083
Neuromuscular Disorders, 27, 1077-1083

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, Neurology, Disease, Facioscapulohumeral dystrophy, DISEASE, FACIAL DIPLEGIA, 0302 clinical medicine, RETINAL-VESSELS, SENSORINEURAL HEARING-LOSS, ATYPICAL FEATURES, Muscular dystrophy, Age of Onset, COATS SYNDROME, Child, Genetics (clinical), EPILEPSY, Perinatology and Child Health, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Muscular Dystrophy, Facioscapulohumeral, Natural history, Sensorineural hearing loss, medicine.symptom, musculoskeletal diseases, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Infantile FSHD, Hearing loss, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], 03 medical and health sciences, medicine, Humans, business.industry, Early onset, Pediatrics, Perinatology and Child Health, Neurology (clinical), Dystrophy, Infant, medicine.disease, MUSCULAR-DYSTROPHY, nervous system diseases, MOBIUS-SYNDROME, 030104 developmental biology, Physical therapy, Age of onset, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1a12a921d7cdcb7811488c22062e178Test
https://hdl.handle.net/2066/182475Test

المؤلفون: Bas Franck, Karlien Mul, Nicol C. Voermans, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Imelda J. M. de Groot, Maaike Pelsma, Rianne J.M. Goselink, Thomas Theelen, Baziel G.M. van Engelen, Nens van Alfen, Corrie E. Erasmus, Jean K. Mah, Tim H. A. Schreuder

المصدر: BMC Neurology, 16
BMC Neurology
BMC Neurology, 16, 138
BMC Neurology, 16, pp. 138

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Muscular dystrophies, Facioscapulohumeral dystrophy, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Cohort Studies, Study Protocol, 0302 clinical medicine, Quality of life, Observational study, Facioscapulohumeral muscular dystrophy, Prospective Studies, Child, Prospective cohort study, education.field_of_study, General Medicine, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Muscular Dystrophy, Facioscapulohumeral, Natural history, Neuromuscular diseases, Phenotype, Motor Skills, Child, Preschool, Population Surveillance, Cohort, Female, musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genotype, Population, Clinical Neurology, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Genetic Heterogeneity, 03 medical and health sciences, medicine, Humans, education, business.industry, Infant, Newborn, Infant, Paediatrics, medicine.disease, 030104 developmental biology, Quality of Life, Etiology, Physical therapy, Gene-Environment Interaction, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06561adebff674b18d64aa93e87f9684Test
https://hdl.handle.net/1887/113798Test

المؤلفون: Marco Angriman, Hannah Stamberger, Rikke S. Møller, Judith Phalin, Lucio Giordano, Leonardo Zoccante, Gaetano Cantalupo, Henrike O. Heyne, Monica Lodi, Ina Schanze, Steffen Syrbe, Marjolein H. Willemsen, Valérie Benoit, Pasquale Striano, Maurizio Viri, Markus Wolff, Joerg Klepper, Hartmut Baier, Corrie E. Erasmus, Marie Deprez, Patrizia Accorsi, Helene Verhelst, Sarah Weckhuysen, Marwan Shinawi, Giuseppe Capovilla, Rudy Van Coster, Almuth Caliebe, Hiltrud Muhle, Peter Uldall, Johannes R. Lemke, Katherine L. Helbig, Susan Winter, Roar Fjær, Ira Benkel-Herrenbrueck, Gerhard Kluger, Robertino Dilena, Gianluca Casara, Nina Michelberger, Carolina Courage, Peter De Jonghe, Ingo Helbig, Mauro Budetta, Andreas Tzschach, Kristel Sleegers, Andreas Merkenschlager, Oliver Maier, Katalin Sterbova, Anne Destree, Carlo Minetti, Antonino Romeo, Marina Nikanorova, Madeleine Fannemel, Martin Zenker, Keri Ramsey, Damien Lederer, Monica Traverso, Jens Schallner

المصدر: Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, Anne; Dilena, Robertino; Erasmus, Corrie E; Fannemel, Madeleine; Fjær, Roar; ... (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology, 86(10), pp. 954-962. Lippincott Williams & Wilkins 10.1212/WNL.0000000000002457 <http://dx.doi.org/10.1212/WNL.0000000000002457Test>
Neurology, 86, 10, pp. 954-62
Stamberger, H, Nikanorova, M, Willemsen, M H, Accorsi, P, Angriman, M, Baier, H, Benkel-Herrenbrueck, I, Benoit, V, Budetta, M, Caliebe, A, Cantalupo, G, Capovilla, G, Casara, G, Courage, C, Deprez, M, Destrée, A, Dilena, R, Erasmus, C E, Fannemel, M, Fjær, R, Giordano, L, Helbig, K L, Heyne, H O, Klepper, J, Kluger, G J, Lederer, D, Lodi, M, Maier, O, Merkenschlager, A, Michelberger, N, Minetti, C, Muhle, H, Phalin, J, Ramsey, K, Romeo, A, Schallner, J, Schanze, I, Shinawi, M, Sleegers, K, Sterbova, K, Syrbe, S, Traverso, M, Tzschach, A, Uldall, P, Van Coster, R, Verhelst, H, Viri, M, Winter, S, Wolff, M, Zenker, M, Zoccante, L, De Jonghe, P, Helbig, I, Striano, P, Lemke, J R, Møller, R S & Weckhuysen, S 2016, ' STXBP1 encephalopathy : A neurodevelopmental disorder including epilepsy ', Neurology, vol. 86, no. 10, pp. 954-962 . https://doi.org/10.1212/WNL.0000000000002457Test
Neurology, 86, 954-62
Neurology

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Ohtahara syndrome, Pediatrics, Movement disorders, Adolescent, Encephalopathy, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Rett syndrome, 610 Medicine & health, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Neurodevelopmental disorder, Munc18 Proteins, Dravet syndrome, Medicine, Humans, Psychiatry, Preschool, Child, Brain Diseases, Child Preschool, business.industry, Medicine (all), Adolescent, Adult, Brain Diseases, Child, Child Preschool, Epilepsy, Female, Humans, Infant, Male, Middle Aged, Munc18 Proteins, Mutation, Neurodevelopmental Disorders, Young Adult, Infant, Middle Aged, medicine.disease, Epileptic spasms, 030104 developmental biology, Child, Preschool, Female, Mutation, Neurodevelopmental Disorders, Neurology (clinical), Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eab9896adc501573a289264812f0af57Test
https://doi.org/10.1212/WNL.0000000000002457Test