Zobrazeno 1 - 10
of 80
pro vyhledávání: '"C. Verschuuren-Bemelmans"'
Autor:
Sterre van der Veen, Hendriekje Eggink, Jan Willem J. Elting, Deborah Sival, Corien C. Verschuuren-Bemelmans, Tom J. de Koning, Marina A.J. Tijssen
Publikováno v:
Neurobiology of Disease, Vol 199, Iss , Pp 106555- (2024)
Progressive myoclonus ataxia (PMA) is a rare clinical syndrome characterized by the presence of progressive myoclonus and ataxia, and can be accompanied by mild cognitive impairment and infrequent epileptic seizures. This is the first study to descri
Externí odkaz:
https://doaj.org/article/e8508a22114248478e2942ea76cd0dd8
Autor:
Fatemeh Ghorbani, Mohamed Z. Alimohamed, Juliana F. Vilacha, Krista K. Van Dijk, Jelkje De Boer-Bergsma, Michiel R. Fokkens, Henny Lemmink, Rolf H. Sijmons, Birgit Sikkema-Raddatz, Matthew R. Groves, Corien C. Verschuuren-Bemelmans, Dineke S. Verbeek, Cleo C. Van Diemen, Helga Westers
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative disorders with autosomal dominant inheritance. Genetic testing for SCA leads to diagnosis, prognosis and risk assessment for patients and their family members. While advances
Externí odkaz:
https://doaj.org/article/e0ce2a4a56bf4a8db0790dfc9826b968
Autor:
Fatemeh Ghorbani, Jelkje de Boer-Bergsma, Corien C. Verschuuren-Bemelmans, Maartje Pennings, Eddy N. de Boer, Berry Kremer, Els K. Vanhoutte, Jeroen J. de Vries, Raymond van de Berg, Erik-Jan Kamsteeg, Cleo C. van Diemen, Helga Westers, Bart P. van de Warrenburg, Dineke S. Verbeek
Publikováno v:
Journal of Neurology, 269, 11, pp. 6086-6093
Journal of Neurology, 269(11), 6086-6093. Springer
Journal of Neurology, 269, 6086-6093
Journal of Neurology, 269. SPRINGER HEIDELBERG
Journal of Neurology, 269(11), 6086-6093. Springer
Journal of Neurology, 269, 6086-6093
Journal of Neurology, 269. SPRINGER HEIDELBERG
Recently, an intronic biallelic (AAGGG)n repeat expansion in RFC1 was shown to be a cause of CANVAS and adult-onset ataxia in multiple populations. As the prevalence of the RFC1 repeat expansion in Dutch cases was unknown, we retrospectively tested 9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfb2b2d8a088911455915fbe776cc272
https://hdl.handle.net/2066/287463
https://hdl.handle.net/2066/287463
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad81111a93fe40576ceea6d3ddf3370f
https://hdl.handle.net/2066/241356
https://hdl.handle.net/2066/241356
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:
Anna Duarri, Esther A R Nibbeling, Michiel R Fokkens, Michel Meijer, Melissa Boerrigter, Corien C Verschuuren-Bemelmans, Berry P H Kremer, Bart P van de Warrenburg, Dennis Dooijes, Erik Boddeke, Richard J Sinke, Dineke S Verbeek
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0116599 (2015)
Spinocerebellar ataxia type 13 (SCA13) is an autosomal dominantly inherited neurodegenerative disorder of the cerebellum caused by mutations in the voltage gated potassium channel KCNC3. To identify novel pathogenic SCA13 mutations in KCNC3 and to ga
Externí odkaz:
https://doaj.org/article/b2f8101955e14ba6b38e6893d817ef18
Autor:
N.M. Maurits, Roelineke J. Lunsing, Corien C. Verschuuren-Bemelmans, R. Brandsma, T. F. Lawerman, OF Brouwer, Hubertus P. H. Kremer, Deborah A Sival, O. Martinez-Manzanera
Publikováno v:
Developmental Medicine and Child Neurology
Developmental Medicine and Child Neurology, 62(1), 75-82. Blackwell Publishing Ltd
Developmental Medicine and Child Neurology, 62(1), 75-82. Blackwell Publishing Ltd
Aims To investigate the accuracy of phenotypic early‐onset ataxia (EOA) recognition among developmental conditions, including developmental coordination disorder (DCD) and hypotonia of central nervous system origin, and the effect of scientifically
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bdaa6618fe7e26c19be8401fd051250
http://europepmc.org/articles/PMC6916203
http://europepmc.org/articles/PMC6916203
Autor:
Cecilia Compton, Mary O'Driscoll, Sian Jenkins, Rhona MacLeod, Angus John Clarke, Nayana Lahiri, Oliver W. Quarrell, Hannah Musgrave, Alan Fryer, Patrick J. Morrison, Martine J. van Belzen, Christine E. M. de Die-Smulders, Zosia Miedzybrodzka, Corien C. Verschuuren-Bemelmans, Mark Strong, Emilia K. Bijlsma, Sascha Vermeer
Publikováno v:
American Journal of Medical Genetics Part B-neuropsychiatric Genetics, 177(1), 35-39. Wiley
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 177(1), 35-39. Wiley
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 177(1), 35-39
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 177(1), 35-39. Wiley
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 177(1), 35-39
A consistent feature of predictive testing guidelines for Huntington's disease (HD) is the recommendation not to undertake predictive tests on those
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f13fed57bc71a95a917ed4566365998
https://doi.org/10.1002/ajmg.b.32582
https://doi.org/10.1002/ajmg.b.32582
Autor:
Victor S.C. Fung, Corien C. Verschuuren-Bemelmans, Richard J. Sinke, Maria Fiorella Contarino, Tom J. de Koning, Emmanuel Roze, Martje E. van Egmond, Marina A. J. Tijssen, Kathryn J. Peall, Nicole I. Wolf, Coen H. A. Lugtenberg, Jacobus J. van Hilten, Michèl A.A.P. Willemsen, Oebele F. Brouwer, Annemarie H. van der Hout, M. Rebecca Heiner-Fokkema
Publikováno v:
Movement Disorders. 32:569-575
Background: Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next-generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af183acd8d473b0273ae80d2ccde7cc0
https://doi.org/10.1002/mds.26937
https://doi.org/10.1002/mds.26937
Autor:
Victoria Biancavilla, A. Reghan Foley, Carsten G. Bönnemann, Maha S. Zaki, Rita Horvath, Sandra Donkervoort, Joseph G. Gleeson, Tobias B. Haack, Matthew Nalls, Chunyu Cai, Katherine R. Chao, Corien C. Verschuuren-Bemelmans, Lucia Laugwitz, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Erik-Jan Kamsteeg, Susan T. Iannaccone, Grace McMacken, Annemarie Fock, Nicol C. Voermans, Payam Mohassel, Veronka Horber, Hanns Lochmüller, Henry Houlden, Tanya J. Lehky, Molly Snyder, Riley M. McCarty, Minal S. Jain
Publikováno v:
Am J Med Genet A
American Journal of Medical Genetics. Part A, 182(10), 2272-2283. Wiley
American Journal of Medical Genetics. Part A, 182, 10, pp. 2272-2283
American Journal of Medical Genetics. Part A, 182, 2272-2283
American Journal of Medical Genetics. Part A, 182(10), 2272-2283. Wiley
American Journal of Medical Genetics. Part A, 182, 10, pp. 2272-2283
American Journal of Medical Genetics. Part A, 182, 2272-2283
Contains fulltext : 229372.pdf (Publisher’s version ) (Closed access) Synaptotagmins are integral synaptic vesicle membrane proteins that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve terminal. Synaptota
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a9a905427015a1435a6bd473ac4d8e4
https://doi.org/10.1002/ajmg.a.61765
https://doi.org/10.1002/ajmg.a.61765