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

المصدر: BMC Neurology, Vol 21, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: LAMA2, Laminin subunit α2 deficiency, Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), SELENON, SEPN1, Natural history, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2377Test

الوصول الحر: https://doaj.org/article/99f6f067662b4ae7948d3919fc82048dTest

المؤلفون: Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín-Hernández, Maria J. Guillen Sacoto, Lindsay B. Henderson, Heather McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: ATP8A2, Phospholipid transfer protein, Optic atrophy, Chorea, Choreoathetosis, Dystonia, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-018-0825-3Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/fe013e7e4ed249f6a19b18adfd360c6aTest

المؤلفون: Mieke Kooi-van Es, Corrie E. Erasmus, Nicoline B. M. Voet, Lenie van den Engel-Hoek, Philip J. van der Wees

مصطلحات موضوعية: Medicine, Biotechnology, Science Policy, Biological Sciences not elsewhere classified, Dysphagia, dysarthria, saliva control, oral hygiene, neuromuscular disorders, best practice recommendations

العلاقة: https://figshare.com/articles/journal_contribution/Best_practice_recommendations_for_speech-language_pathology_in_children_with_neuromuscular_disorders_A_Delphi-based_consensus_study/22318071Test

الإتاحة: https://doi.org/10.6084/m9.figshare.22318071.v2Test
https://figshare.com/articles/journal_contribution/Best_practice_recommendations_for_speech-language_pathology_in_children_with_neuromuscular_disorders_A_Delphi-based_consensus_study/22318071Test

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

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, 635-642

مصطلحات 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

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: 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-Blackwell

مصطلحات 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

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: 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: 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. 452-466

مصطلحات 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