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: 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: 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

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: Karin Alvarez, Cecilia Okuma, Pinar Topaloglu, Cristina Dallabona, Chloe A Stutterd, Claudia Castiglioni, Chiara Aiello, Elisa Rahikkala, Gabriel Chow, Emanuele Bellacchio, Menno D Stellingwerff, Truus E.M. Abbink, Sarah Hughes, Sébastien Lebon, Gessica Vasco, Paola Goffrini, Amarilis Sanchez-Valle, Marjo S. van der Knaap, Sonia Figuccia, Corrie E. Erasmus, Enrico Bertini, Thomas Schmitt-Mechelke

المساهمون: Functional Genomics, Pediatrics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms

المصدر: Neurology. Genetics, 7(2). Lippincott Williams and Wilkins
Neurology: Genetics, 7(2). Lippincott Williams and Wilkins
Stellingwerff, M D, Figuccia, S, Bellacchio, E, Alvarez, K, Castiglioni, C, Topaloglu, P, Stutterd, C A, Erasmus, C E, Sanchez-Valle, A, Lebon, S, Hughes, S, Schmitt-Mechelke, T, Vasco, G, Chow, G, Rahikkala, E, Dallabona, C, Okuma, C, Aiello, C, Goffrini, P, Abbink, T E M, Bertini, E S & Van der Knaap, M S 2021, ' LBSL : Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations ', Neurology. Genetics, vol. 7, no. 2, e559, pp. e559 . https://doi.org/10.1212/NXG.0000000000000559Test
Neurology. Genetics, 7, 2
Stellingwerff, M D, Figuccia, S, Bellacchio, E, Alvarez, K, Castiglioni, C, Topaloglu, P, Stutterd, C A, Erasmus, C E, Sanchez-Valle, A, Lebon, S, Hughes, S, Schmitt-Mechelke, T, Vasco, G, Chow, G, Rahikkala, E, Dallabona, C, Okuma, C, Aiello, C, Goffrini, P, Abbink, T E M, Bertini, E S & Van der Knaap, M S 2021, ' LBSL : Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations ', Neurology: Genetics, vol. 7, no. 2, pp. e559 . https://doi.org/10.1212/NXG.0000000000000559Test
Neurology. Genetics, 7

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Microcephaly, business.industry, Leukodystrophy, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], medicine.disease, Compound heterozygosity, Null allele, Leukoencephalopathy, Atrophy, Medicine, Missense mutation, Neurology (clinical), Brainstem, business, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73e5bc1e3471ecf88ccedb8e73b7a38bTest
https://hdl.handle.net/1871.1/e2c2712f-05ed-4861-a58d-04049b1846f5Test

المؤلفون: Menno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E. M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap

المساهمون: Stellingwerff, Menno D., Figuccia, Sonia, Bellacchio, Emanuele, Alvarez, Karin, Castiglioni, Claudia, Topaloglu, Pinar, Stutterd, Chloe A., Erasmus, Corrie E., Sanchez‐valle, Amarili, Lebon, Sebastien, Hughes, Sarah, Schmitt-Mechelke, Thoma, Vasco, Gessica, Chow, Gabriel, Rahikkala, Elisa, Dallabona, Cristina, Okuma, Cecilia, Aiello, Chiara, Goffrini, Paola, Abbink, Truus E. M., Bertini, Enrico S., Van der Knaap, Marjo S.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000658830100015; volume:7; issue:2; numberofpages:14; journal:NEUROLOGY. GENETICS; https://hdl.handle.net/11381/2891818Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85104666467

الإتاحة: https://doi.org/10.1212/NXG.0000000000000559Test
https://hdl.handle.net/11381/2891818Test

المؤلفون: Nick Kruijt, L. Van Den Bersselaar, Corrie E. Erasmus, Nicol C. Voermans, Heinz Jungbluth, D.S. Everaerd, E. Kamsteeg, Wim Verbeeck, M. Snoeck, D.R.M. Jansen, W.F. Abdo

المصدر: European Journal of Neurology, 28, 647-659
European Journal of Neurology, 28, 2, pp. 647-659
European Journal of Neurology

مصطلحات موضوعية: Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], next‐generation sequencing, Anoctamins, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Rhabdomyolysis, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Muscle and MNJ Disorders, 03 medical and health sciences, SGCG, 0302 clinical medicine, Muscular Diseases, hyperCKaemia, Genetic predisposition, Humans, Medicine, Genetic Predisposition to Disease, Pentosyltransferases, 030212 general & internal medicine, NAV1.4 Voltage-Gated Sodium Channel, Muscle, Skeletal, ACADM, Retrospective Studies, SGCA, RYR1, business.industry, Genetic disorder, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Neurology, Immunology, Etiology, Original Article, Neurology (clinical), business, 030217 neurology & neurosurgery, genetic susceptibility

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c0436461c82855423007e93be3d5363Test
http://hdl.handle.net/2066/231548Test