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: 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

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: Corrie E. Erasmus, Jan T. Groothuis, Robin Nijveldt, Anne T. M. Dittrich, E. van Kleef, B.G.M. van Engelen, Mirian C. H. Janssen, Karlijn Bouman, E. Kamsteeg, F. van Tienen, Jonne Doorduin, Stan Buckens, H. J. M. Smeets, Jan A.M. Smeitink, F. Udink ten Cate, Jos M. T. Draaisma, F. van den Heuvel, Nicol C. Voermans, W. van Tilburg, N. van Alfen

المصدر: Neuromuscular Disorders. 31:S70

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::98e1f1047360b0e7901246171ae6e03dTest
https://doi.org/10.1016/j.nmd.2021.07.094Test

المؤلفون: L. van den Bersselaar, N. Kruijt, S. Buckens, L. Joosten, G. Scheffer, L. van Eijk, J. Kusters, B. van Engelen, N. van Alfen, S. Riazi, S. Treves, H. Jungbluth, E. Kamsteeg, M. Snoeck, N. Voermans

المصدر: Neuromuscular Disorders. 31:S65

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::77822e670bb462b7a5c6d0c5f5464a65Test
https://doi.org/10.1016/j.nmd.2021.07.078Test

المؤلفون: M. Bednarz, B. C. Stunnenberg, B. Kusters, E. Kamsteeg, C. G. Saris, J. Groome, V. Winston, K. Jurkat Rott, N. C. Voermans, G. Meola

المساهمون: M. Bednarz, B.C. Stunnenberg, B. Kuster, E. Kamsteeg, C.G. Sari, J. Groome, V. Winston, G. Meola, K. Jurkat-Rott, N.C. Voermans

مصطلحات موضوعية: Myopathy, Na(V)1.4 voltage-gated sodium channel, Paramyotonia congenita, Whole-cell recording, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28024841; info:eu-repo/semantics/altIdentifier/wos/WOS:000394474600011; volume:27; issue:2; firstpage:175; lastpage:182; numberofpages:8; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/2434/474096Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85009446484

الإتاحة: https://doi.org/10.1016/j.nmd.2016.09.023Test
http://hdl.handle.net/2434/474096Test

المؤلفون: E. Kamsteeg, Caroline Sewry, Rahul Phadke, Y. Arens, M. Ward, Mark M. Davis, Song Won Park, G. Ravenscroft, D. de Silva, Sandra Coppens, Emily C. Oates, C.G. Tay, M. Bakshi, Nigel G. Laing, Nicolas Deconinck, Adnan Y. Manzur, N. Thomas, Francesco Muntoni, C. French, Hazim Kadhim

المصدر: Neuromuscular Disorders. 29:S137

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Weakness, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Early death, Neurology (clinical), medicine.symptom, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fb7ee484692bb0c9091bbf0685525d4eTest
https://doi.org/10.1016/j.nmd.2019.06.355Test

المؤلفون: S. Donkervoort, P. Mohassel, L. Laugwitz, E. Kamsteeg, K. Chao, C. Verschuuren-Bemelmans, V. Horber, J. Fock, N. Voermans, Y. Hu, M. Snyder, S. Iannaccone, H. Lochmüller, T. Haack, A. Foley, R. Horvath, C. Bönnemann

المصدر: Neuromuscular Disorders. 29:S192

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c78e2bb5324ea0fb4fa5b576033a650aTest
https://doi.org/10.1016/j.nmd.2019.06.542Test

المؤلفون: E. Kamsteeg, Christiaan G J Saris, Richard J. Rodenburg, R. Schoenaker, Merel Jansen, B.G.M. van Engelen

المصدر: Neuromuscular Disorders. 29:S59

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neurology, business.industry, External ophthalmoplegia, Pediatrics, Perinatology and Child Health, Cohort, Medicine, Neurology (clinical), business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0ae120a9bef4ded510be1aa30489fb49Test
https://doi.org/10.1016/j.nmd.2019.06.092Test

المؤلفون: K. Y. van Spaendonck-Zwarts, J. de Winter, Nicol C. Voermans, Janneke Timmermans, J. D. H. Jongbloed, B.G.M. van Engelen, Henk Granzier, Karlijn Bouman, M.P. van den Berg, E. Kamsteeg, Coen A.C. Ottenheijm, W. van der Roest, J. Strohm, R. Van der Pijl, J. van Wijngaarden

المصدر: Neuromuscular Disorders. 29:S118

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), medicine.symptom, business, Myopathy, Cardiac phenotype, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f8157d3de1241d08e4962b75b29e86e1Test
https://doi.org/10.1016/j.nmd.2019.06.293Test