المؤلفون: Jos M. T. Draaisma, Jonne Doorduin, Nicol C. Voermans, Florence H J van Tienen, Hubert J.M. Smeets, Baziel G.M. van Engelen, Jan A.M. Smeitink, Nens van Alfen, Saskia Koene, Benno Küsters, Willem C M van Tilburg, Mirian C. H. Janssen, Floris E A Udink Ten Cate, Corrie E. Erasmus, Robin Nijveldt, Anne T. M. Dittrich, Karlijn Bouman, Frederik M. A. van den Heuvel, Jan T. Groothuis, Stan Buckens, Esmee S.B. Van Kleef, Erik-Jan Kamsteeg

المساهمون: RS: MHeNs - R3 - Neuroscience, Toxicogenomics, RS: GROW - R4 - Reproductive and Perinatal Medicine, RS: FHML MaCSBio

المصدر: BMC Neurology, Vol 21, Iss 1, Pp 1-14 (2021)
BMC Neurology, 21
BMC Neurology
BMC Neurology, 21, 1
BMC Neurology, 21(1):313. BioMed Central Ltd

مصطلحات موضوعية: Pediatrics, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Outcome measures, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Muscular Dystrophies, Pulmonary function testing, Study Protocol, Outcome Assessment, Health Care, Laminin subunit α2 deficiency, SEPN1, Prospective Studies, Muscular dystrophy, OXIDATIVE STRESS, Child, ULTRASOUND, SELENOPROTEIN-N, medicine.diagnostic_test, All ages, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Magnetic Resonance Imaging, RELIABILITY, Congenital muscular dystrophy, medicine.symptom, Natural history study, SKELETAL-MUSCLE PATHOLOGY, CLINICAL-TRIALS, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Trial readiness, QUESTIONNAIRE, Natural history, DUCHENNE DYSTROPHY, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Neurological examination, VALIDATION, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], All institutes and research themes of the Radboud University Medical Center, medicine, Humans, LAMA2, Myopathy, SELENON, RC346-429, Laminin subunit a2 deficiency, business.industry, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), medicine.disease, Congenital myopathy, REFERENCE VALUES, Clinical trial, Neurology (clinical), Laminin, Neurology. Diseases of the nervous system, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::082c4be5cfdce3bc0565bf9172f1431eTest
https://doaj.org/article/99f6f067662b4ae7948d3919fc82048dTest

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-E2233

مصطلحات 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

المؤلفون: Peter H. Jongerius, Alexander C. H. Geurts, Jan J W van der Burg, Karen van Hulst, Corrie E. Erasmus

المصدر: Developmental Medicine and Child Neurology
Developmental Medicine & Child Neurology, 62, 3, pp. 354-362
Developmental Medicine & Child Neurology, 62, 354-362

مصطلحات موضوعية: Male, 030506 rehabilitation, Pediatrics, medicine.medical_specialty, Adolescent, Visual analogue scale, Developmental Disabilities, Treatment outcome, Submandibular Gland, Acetylcholine Release Inhibitors, Learning and Plasticity, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Drooling, 03 medical and health sciences, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Developmental Neuroscience, medicine, Humans, University medical, Botulinum Toxins, Type A, Child, business.industry, Repeated measures design, Original Articles, Sialorrhea, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Botulinum neurotoxin, Treatment Outcome, Child, Preschool, Pediatrics, Perinatology and Child Health, Original Article, Female, Neurology (clinical), medicine.symptom, 0305 other medical science, business, 030217 neurology & neurosurgery, After treatment, Cohort study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a16f652ab73094ef06b976258dbb669Test
http://europepmc.org/articles/PMC7028146Test

المؤلفون: Frank J. A. van den Hoogen, Corrie E. Erasmus, Corinne P Delsing, Karen van Hulst, Stijn Bekkers, Ineke M J Pruijn, Arthur R T Scheffer

المصدر: Developmental Medicine & Child Neurology, 62, 861-867
Developmental Medicine & Child Neurology, 62, 7, pp. 861-867
Developmental Medicine and Child Neurology

مصطلحات موضوعية: Male, 030506 rehabilitation, medicine.medical_specialty, Submandibular duct, Visual analogue scale, Submandibular Gland, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Drooling, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, stomatognathic system, Developmental Neuroscience, Outcome Assessment, Health Care, medicine, Humans, Salivary Ducts, Botulinum Toxins, Type A, Child, Retrospective Studies, business.industry, Cerebral Palsy, Retrospective cohort study, Gross Motor Function Classification System, Sialorrhea, Original Articles, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Confidence interval, Surgery, Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10], medicine.anatomical_structure, Neuromuscular Agents, Pediatrics, Perinatology and Child Health, Female, Original Article, Neurology (clinical), medicine.symptom, 0305 other medical science, business, Ligation, 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___::36fd4a93c8802c9b156daad63f4ed767Test
https://doi.org/10.1111/dmcn.14510Test

المؤلفون: Nicol C. Voermans, Karlien Mul, Nens van Alfen, Corrie E. Erasmus, Tim H. A. Schreuder, Baziel G.M. van Engelen, Rianne J.M. Goselink

المصدر: Neurology, 94, E1488-E1494
Neurology, 94, 14, pp. E1488-E1494

مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, Male, medicine.medical_specialty, Imaging biomarker, Adolescent, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Physical examination, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Predictive Value of Tests, Internal medicine, medicine, Humans, Longitudinal Studies, Prospective Studies, Muscular dystrophy, Prospective cohort study, Child, Muscle, Skeletal, Aged, Ultrasonography, medicine.diagnostic_test, Anatomy, Cross-Sectional, business.industry, Echogenicity, Reproducibility of Results, Middle Aged, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Muscular Dystrophy, Facioscapulohumeral, 030104 developmental biology, Treatment Outcome, Predictive value of tests, Disease Progression, Biomarker (medicine), Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Biomarkers, Cohort study, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b91ef5a19ed316a6eb7c881b9ee13b4bTest
http://hdl.handle.net/2066/219257Test

المؤلفون: Silvère M. van der Maarel, George W. Padberg, Thomas Theelen, Baziel G.M. van Engelen, Rianne J.M. Goselink, Vivian Schreur, Corrie E. Erasmus, Caroline R. van Kernebeek

المصدر: Brain Communications
Brain Communications, 1
Brain Communications, 1, 1

مصطلحات موضوعية: muscular dystrophy, medicine.medical_specialty, Arterial tortuosity syndrome, Visual acuity, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Neurological examination, neuromuscular diseases, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Ophthalmology, medicine, Retinal pigment epithelium, medicine.diagnostic_test, business.industry, General Engineering, Fundus photography, Dystrophy, retinal telangiectasis, Retinal, facioscapulohumeral, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.anatomical_structure, chemistry, 030221 ophthalmology & optometry, Original Article, Retinal Telangiectasis, sense organs, medicine.symptom, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cd2a012d52a03eddacfd549740e4e75Test
http://europepmc.org/articles/PMC7425335Test

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: Frank J. A. van den Hoogen, Saskia E. Kok, Karen van Hulst, Hans F J P van Valenberg, Corrie E. Erasmus, Peter H. Jongerius

المصدر: Developmental Medicine & Child Neurology, 61, 1323-1328
Developmental Medicine & Child Neurology, 61, 11, pp. 1323-1328

مصطلحات موضوعية: Adult, Male, 030506 rehabilitation, Adolescent, Visual analogue scale, Submandibular duct, Submandibular Gland, Acetylcholine Release Inhibitors, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Drooling, Injections, Cerebral palsy, Young Adult, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Developmental Neuroscience, Urological cancers Radboud Institute for Molecular Life Sciences [Radboudumc 15], medicine, Humans, Botulinum Toxins, Type A, Young adult, Child, Retrospective Studies, business.industry, Sublingual gland, Retrospective cohort study, Sialorrhea, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Prognosis, medicine.disease, Submandibular gland, Treatment Outcome, medicine.anatomical_structure, Anesthesia, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, 0305 other medical science, 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___::48ed9214677c1c7b50a58bdd9f1a6441Test
http://hdl.handle.net/2066/208422Test

المؤلفون: Meyke Schouten, M. Snoeck, José A. E. Custers, C. Coleman, Chris M. Verhaak, Erik-Jan Kamsteeg, E. van Ruitenbeek, Heinz Jungbluth, Nicol C. Voermans, Susan Treves, Corrie E. Erasmus, B.G.M. van Engelen

المصدر: Neuromuscular Disorders, 29, 1, pp. 30-38
Neuromuscular Disorders, 29, 30-38
van Ruitenbeek, E, Custers, J A E, Verhaak, C, Snoeck, M, Erasmus, C, Kamsteeg, E J, Schouten, M I, Coleman, C, Treves, S, Van Engelen, B G, Jungbluth, H & Voermans, N C 2018, ' Functional impairments, fatigue and quality of life in RYR1-related myopathies : a questionnaire study ', Neuromuscular Disorders . https://doi.org/10.1016/j.nmd.2018.10.006Test

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Cohort Studies, 03 medical and health sciences, Disability Evaluation, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Quality of life, Muscular Diseases, Surveys and Questionnaires, medicine, Humans, Genetics (clinical), Disease burden, Fatigue, RYR1, business.industry, Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Malignant hyperthermia, Chronic fatigue, Ryanodine Receptor Calcium Release Channel, Middle Aged, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Congenital myopathy, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], 030104 developmental biology, Cross-Sectional Studies, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, Exertional rhabdomyolysis, Quality of Life, Female, Neurology (clinical), business, Malignant Hyperthermia, Rhabdomyolysis, 030217 neurology & neurosurgery, Preliminary Data, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e98d9879ac7a0e6c55e7eb933c2d5b7eTest
https://hdl.handle.net/2066/202034Test

المؤلفون: Pieter H Jongerius, Diane Sellers, Corrie E. Erasmus, Karen van Hulst, Alexander C. H. Geurts, Dorinda A C Snik

المصدر: Journal of Pediatric Rehabilitation Medicine, 11, 2, pp. 115-124
Journal of Pediatric Rehabilitation Medicine, 11, 115-124

مصطلحات موضوعية: Male, Parents, 030506 rehabilitation, Adolescent, Intraclass correlation, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Physical Therapy, Sports Therapy and Rehabilitation, Cerebral palsy, 03 medical and health sciences, Disability Evaluation, Eating, Young Adult, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, medicine, Humans, EDACS, Child, Netherlands, business.industry, Cerebral Palsy, Rehabilitation, Construct validity, Reproducibility of Results, Usability, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Confidence interval, Deglutition, Inter-rater reliability, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, 0305 other medical science, Psychology, business, Deglutition Disorders, 030217 neurology & neurosurgery, Kappa, Algorithms, Clinical psychology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f04668c3c2751843f96f961c50fe0b8eTest
https://pubmed.ncbi.nlm.nih.gov/30010151Test