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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 -
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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 Ltdمصطلحات 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 -
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المؤلفون: Florentine V Schepers, Bea Spek, Karen van Hulst, Corrie E. Erasmus, Lenie van den Engel-Hoek
المساهمون: Epidemiology and Data Science
المصدر: Developmental Medicine & Child Neurology, 64(2), 253-258. Blackwell Publishing Ltd
Developmental Medicine & Child Neurology, 64, 2, pp. 253-258
Developmental Medicine & Child Neurology, 64, 253-258
Developmental medicine and child neurology, 64(2), 253-258. Wiley-Blackwellمصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Drinking, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Severity of Illness Index, Cerebral palsy, Typically developing, Eating, Developmental Neuroscience, Swallowing, medicine, otorhinolaryngologic diseases, Humans, Limit (mathematics), EDACS, Child, business.industry, Cerebral Palsy, Mean age, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Dysphagia, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, Deglutition Disorders
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee02f9d151abca83da43d64c27d33acaTest
https://research.rug.nl/en/publications/1c78ad46-6dcc-4ff2-9c42-2cc14ca6a772Test -
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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 -
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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 -
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المؤلفون: Joery P. Molenaar, Gaetano Vattemi, E. Kamsteeg, Benno Küsters, Damien Sternberg, Valeria Guglielmi, Amaia Martínez-Arroyo, K. Suetterlin, Corrie E. Erasmus, Barbara W. Brandom, Juergen Seeger, Susan Treves, Nicol C. Voermans, Thierry Kuntzer, Jérôme Franques, Mark E. Roberts, Roberto Fernández-Torrón, Frédéric Chevessier, Jamie I Verhoeven, Guillaume Bassez, Baziel G.M. van Engelen, Anthony Behin, Lucie Guyant-Maréchal, Richard J. Rodenburg, Savine Vicart, Jean Mathieu, Bruno Eymard, Armelle Magot, Michael G. Hanna, Yann Péréon, M.M.J. Snoeck
المصدر: Brain
Brain, 143, 2, pp. 452-466
Brain, 143, 452-466
Brain, vol. 143, no. 2, pp. 452-466مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Myotonia Congenita, phenotype, genotype, Calcium-Transporting ATPases/genetics, Child, Female, Humans, Muscle, Skeletal/metabolism, Muscle, Skeletal/physiopathology, Muscular Diseases/genetics, Mutation/genetics, Myotonia Congenita/genetics, Phenotype, Sarcoplasmic Reticulum/metabolism, Young Adult, ATP2A1, Brody disease, calcium, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Physical examination, Calcium-Transporting ATPases, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, 0302 clinical medicine, Atrophy, Muscular Diseases, Internal medicine, medicine, Myopathy, Muscle, Skeletal, Muscle contracture, Muscle biopsy, medicine.diagnostic_test, business.industry, Malignant hyperthermia, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Original Articles, Myotonia, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Editor's Choice, Sarcoplasmic Reticulum, 030104 developmental biology, Mutation, Neurology (clinical), medicine.symptom, Contracture, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aae815c34577eaee53ba8ee9644b0c8Test
http://europepmc.org/articles/PMC7009512Test -
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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 -
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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, 354-362مصطلحات 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 -
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المؤلفون: Nicol C. Voermans, Anneke J. van der Kooi, Stacha F. I. Reumers, Jennifer E. Spillane, Maartje Pennings, Erik-Jan Kamsteeg, Ulrike Schara-Schmidt, Corrie E. Erasmus, Carsten G. Bönnemann, A. Reghan Foley, Meyke Schouten, Frederik Braun, Heinz Jungbluth, Johann Böhm
المساهمون: Neurology, ANS - Neuroinfection & -inflammation, EURO-NMD
المصدر: Neurology, 97(5), e501-e512. Lippincott Williams and Wilkins
Neurology, 97, e501-e512
Neurology, 97, 5, pp. e501-e512
Neurologyمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, medicine.medical_specialty, Activities of daily living, Medizin, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Exercise intolerance, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, 0302 clinical medicine, Cost of Illness, Quality of life, Germany, Surveys and Questionnaires, Internal medicine, Prevalence, medicine, Humans, Registries, Exercise, Research Articles, Fatigue, Aged, Netherlands, Pain Measurement, Muscle Weakness, business.industry, Muscle weakness, Middle Aged, Protein Tyrosine Phosphatases, Non-Receptor, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, X-linked myotubular myopathy, United Kingdom, Cross-Sectional Studies, 030104 developmental biology, McGill Pain Questionnaire, Cohort, Population study, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b9bdc91bfc14a6898a50e4df65e664bTest
https://pure.amc.nl/en/publications/spectrum-of-clinical-features-in-xlinked-myotubular-myopathy-carriers-an-international-questionnaire-studyTest(69350f15-7e0c-4bc8-b6d2-e4894cbb4dda).html -
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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