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: 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

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
Neurology

مصطلحات 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

المؤلفون: A. Foley, J. Spillane, Maartje Pennings, Frederik Braun, Stacha F. I. Reumers, Corrie E. Erasmus, A. J. van der Kooi, E. Kamsteeg, Johann Böhm, Heinz Jungbluth, Ulrike Schara-Schmidt, Carsten G. Bönnemann, Nicol C. Voermans, Meyke Schouten

المصدر: Neuromuscular Disorders. 31:S57

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32300b9d1f41c46a5076136f81a01b0eTest
https://doi.org/10.1016/j.nmd.2021.07.050Test

المؤلفون: Phillip J. Tully, Maxime Tumelaire, Jurgen A.H.R. Claassen, Stacha F. I. Reumers, Rianne A.A. de Heus, Alba van der Have

المصدر: Journal of Alzheimer's Disease
Journal of Alzheimer's Disease, 74, 2, pp. 463-472
Journal of Alzheimer's Disease, 74, 463-472

مصطلحات موضوعية: 0301 basic medicine, Male, cognition, Alzheimer`s disease Donders Center for Medical Neuroscience [Radboudumc 1], small vessel disease, Physiology, Blood Pressure, 0302 clinical medicine, Risk Factors, Medicine, Cognitive decline, Aged, 80 and over, education.field_of_study, General Neuroscience, General Medicine, Blood Pressure Monitoring, Ambulatory, Middle Aged, Magnetic Resonance Imaging, Circadian Rhythm, Psychiatry and Mental health, Clinical Psychology, Hypertension, Female, Cardiology and Cardiovascular Medicine, Research Article, medicine.medical_specialty, Evening, Population, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Diabetes mellitus, Internal medicine, Internal Medicine, Humans, cerebrovascular damage, home monitoring, Cognitive Dysfunction, education, Aged, Memory Disorders, business.industry, Memory clinic, Odds ratio, medicine.disease, Confidence interval, 030104 developmental biology, Cross-Sectional Studies, Blood pressure, Cerebral Small Vessel Diseases, Dementia, blood pressure variability, Geriatrics and Gerontology, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::116fc1425cf88952a0edcaa6137d54c2Test
https://doi.org/10.1097/01.hjh.0000746436.41311.89Test

المؤلفون: Stacha F. I. Reumers, Corrie E. Erasmus, Karlijn Bouman, Maartje Pennings, Meyke Schouten, Benno Kusters, Floor A. M. Duijkers, Anneke Kooi, Bregje Jaeger, Corien C. Verschuuren‐Bemelmans, Catharina G. Faber, Baziel G. Engelen, Erik‐Jan Kamsteeg, Heinz Jungbluth, Nicol C. Voermans

الإتاحة: https://doi.org/10.1111/cge.14054/v3/response1Test