Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Meyke Schouten"'
Autor:
Enrico Bugiardini, Andreia M. Nunes, Ariany Oliveira‐Santos, Marisela Dagda, Tatiana M. Fontelonga, Pamela Barraza‐Flores, Alan M. Pittman, Jasper M. Morrow, Matthew Parton, Henry Houlden, Perry M. Elliott, Petros Syrris, Roderick P. Maas, Mohammed M. Akhtar, Benno Küsters, Joost Raaphorst, Meyke Schouten, Erik‐Jan Kamsteeg, Baziel van Engelen, Michael G. Hanna, Rahul Phadke, Luis R. Lopes, Emma Matthews, Dean J. Burkin
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 23 (2022)
Background Integrin α7β1 is a major laminin receptor in skeletal and cardiac muscle. In skeletal muscle, integrin α7β1 plays an important role during muscle development and has been described as an important modifier of skeletal muscle diseases.
Externí odkaz:
https://doaj.org/article/350a26baecc8491eac3c63f5cd504fe7
Autor:
Maartje Pennings, Rowdy P. P. Meijer, Monique Gerrits, Jannie Janssen, Rolph Pfundt, Nicole de Leeuw, Christian Gilissen, Thatjana Gardeitchik, Meyke Schouten, Nicol Voermans, Bart van de Warrenburg, Erik-Jan Kamsteeg
Publikováno v:
European Journal of Human Genetics, 31, 6, pp. 654-662
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 31, 654-662
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 31, 654-662
Various groups of neurological disorders, including movement disorders and neuromuscular diseases, are clinically and genetically heterogeneous. Diagnostic panel-based exome sequencing is a routine test for these disorders. Despite the success rates
Autor:
Fleur van den Udenhout, Peter Merkus, Sandra Verhaagen‐van den Akker, Meyke Schouten, Corrie Erasmus, Hilde Braakman
Publikováno v:
Acta Paediatrica, 112, 5, pp. 1091-1096
Acta Paediatrica, 112, 1091-1096
Acta Paediatrica, 112, 1091-1096
Contains fulltext : 291970.pdf (Publisher’s version ) (Open Access) AIM: Respiratory insufficiency can be a presenting symptom of congenital myasthenic syndromes (CMS) but is rarely recognised as such. In this study, we aim to raise awareness of CM
Autor:
Marina P Hommersom, Teije van Prooije, Hans van Bokhoven, Erik-Jan Kamsteeg, Bart P.C. van de Warrenburg, Maartje Pennings, Meyke Schouten
Publikováno v:
Web of Science
Journal of Neurology, 269, 6, pp. 3094-3108
Journal of Neurology, 269, 3094-3108
Journal of Neurology, 269, 6, pp. 3094-3108
Journal of Neurology, 269, 3094-3108
Item does not contain fulltext Variants in CACNA1A are classically related to episodic ataxia type 2, familial hemiplegic migraine type 1, and spinocerebellar ataxia type 6. Over the years, CACNA1A has been associated with a broader spectrum of pheno
Autor:
Erik-Jan Kamsteeg, Maartje Pennings, Rowdy Meijer, Monique Gerrits, Jannie Janssen, Rolph Pfundt, Nicole de Leeuw, Christian Gilissen, Thatjana Gardeitchik, Meyke Schouten, Nicol Voermans, Bart van de Warenburg
Various groups of neurological disorders, including movement disorders and neuromuscular diseases, are clinically and genetically heterogeneous. Diagnostic panel-based exome sequencing is a routine test for these disorders. Despite the success rates
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::746d136c7d02ee65fafa84c3e9e47dbb
https://doi.org/10.21203/rs.3.rs-1869739/v1
https://doi.org/10.21203/rs.3.rs-1869739/v1
Autor:
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
Publikováno v:
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.14054
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.14054
Contains fulltext : 241356.pdf (Publisher’s version ) (Open Access) Centronuclear myopathy (CNM) is a genetically heterogeneous congenital myopathy characterized by muscle weakness, atrophy, and variable degrees of cardiorespiratory involvement. Th
Autor:
Erik-Jan Kamsteeg, Michèl A.A.P. Willemsen, Meyke Schouten, Rick C. Helmich, Bart P.C. van de Warrenburg, Tessa Wassenberg
Publikováno v:
Parkinsonism & Related Disorders, 74, 12-15
Parkinsonism & Related Disorders, 74, pp. 12-15
Parkinsonism & Related Disorders, 74, pp. 12-15
Background Autosomal dominant GCH1 mutations are known to cause dopa-responsive dystonia (DRD). In this case series, we confirm a variant phenotype, characterized by predominant spastic paraplegia at disease onset with development of dystonia and/or
Autor:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7678e0e8240418075edf3b22b59a9d8
https://doi.org/10.1111/cge.14054/v3/response1
https://doi.org/10.1111/cge.14054/v3/response1
Autor:
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
Publikováno v:
Neurology, 97(5), e501-e512. Lippincott Williams and Wilkins
Neurology, 97, e501-e512
Neurology, 97, 5, pp. e501-e512
Neurology
Neurology, 97, e501-e512
Neurology, 97, 5, pp. e501-e512
Neurology
ObjectiveTo characterize the spectrum of clinical features in a cohort of X-linked myotubular myopathy (XL-MTM) carriers, including prevalence, genetic features, clinical symptoms, and signs, as well as associated disease burden.MethodsWe performed a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b9bdc91bfc14a6898a50e4df65e664b
https://pure.amc.nl/en/publications/spectrum-of-clinical-features-in-xlinked-myotubular-myopathy-carriers-an-international-questionnaire-study(69350f15-7e0c-4bc8-b6d2-e4894cbb4dda).html
https://pure.amc.nl/en/publications/spectrum-of-clinical-features-in-xlinked-myotubular-myopathy-carriers-an-international-questionnaire-study(69350f15-7e0c-4bc8-b6d2-e4894cbb4dda).html
Autor:
Bertrand Isidor, Ruth Armstrong, Thabo M. Yates, Susan M. White, Ruth Richardson, Solveig Heide, Katherine B. Burke, Tjitske Kleefstra, Marie Vincent, Meena Balasubramanian, Maria Irene Valenzuela Palafoll, Sébastien Küry, Rolph Pfundt, Ruth Newbury-Ecob, Sahar Mansour, Wendy K. Chung, Caroline Nava, Sofia Douzgou, Erika Leenders, Annachiara De Sandre-Giovannoli, Saba Sharif, Andrew E. Fry, Helen Stewart, Nicola K. Ragge, Alexander J. M. Dingemans, Pradeep C. Vasudevan, Alison Foster, Sahar Elouej, Shadi Albaba, François-Guillaume Debray, Boris Keren, Serwet Demirdas, Francis H. Sansbury, Thomas Scheffner, Arie van Haeringen, Alice S. Brooks, Meyke Schouten, Helen Cox, Kate Wilson
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, In press, ⟨10.1038/s41431-020-00769-7⟩
European Journal of Human Genetics, 29(4), 625-636. Nature Publishing Group
Scientia
European Journal of Human Genetics, In press, ⟨10.1038/s41431-020-00769-7⟩
European Journal of Human Genetics, 29, 4, pp. 625-636
European Journal of Human Genetics, 29, 625-636
European Journal of Human Genetics, 29(4), 625-636. SPRINGERNATURE
European Journal of Human Genetics, Nature Publishing Group, In press, ⟨10.1038/s41431-020-00769-7⟩
European Journal of Human Genetics, 29(4), 625-636. Nature Publishing Group
Scientia
European Journal of Human Genetics, In press, ⟨10.1038/s41431-020-00769-7⟩
European Journal of Human Genetics, 29, 4, pp. 625-636
European Journal of Human Genetics, 29, 625-636
European Journal of Human Genetics, 29(4), 625-636. SPRINGERNATURE
Trastornos del espectro autista; Prueba genética Trastorns de l'espectre autista; Prova genètica Autism spectrum disorders; Genetic testing Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211d719da101010371b73dc1427c5fd2
https://hal.sorbonne-universite.fr/hal-03113281
https://hal.sorbonne-universite.fr/hal-03113281