Zobrazeno 1 - 10 of 71 pro vyhledávání: '"R. Fokkens"'
1
Akademický článek
Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants
Autor: Kai Yu Ma, Michiel R. Fokkens, Teus van Laar, Dineke S. Verbeek
Publikováno v: npj Parkinson's Disease, Vol 7, Iss 1, Pp 1-11 (2021)
Abstract Pathogenic variants in PINK1 cause early-onset Parkinson’s disease. Although many PINK1 variants have been reported, the clinical significance is uncertain for the majority of them. To gain insights into the consequences of PINK1 missense
Externí odkaz: https://doaj.org/article/1f25a54650f04d3cb574a56e3c1938d2
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2
Akademický článek
Parkinson’s disease–associated VPS35 mutant reduces mitochondrial membrane potential and impairs PINK1/Parkin-mediated mitophagy
Autor: Kai Yu Ma, Michiel R. Fokkens, Fulvio Reggiori, Muriel Mari, Dineke S. Verbeek
Publikováno v: Translational Neurodegeneration, Vol 10, Iss 1, Pp 1-17 (2021)
Abstract Background Mitochondrial dysfunction plays a prominent role in the pathogenesis of Parkinson’s disease (PD), and several genes linked to familial PD, including PINK1 (encoding PTEN-induced putative kinase 1 [PINK1]) and PARK2 (encoding the
Externí odkaz: https://doaj.org/article/93bd9e0cdc864b45abf04f7c7d22a75a
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3
Akademický článek
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance
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
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5
Development and validation of combined symptom-medication scores for allergic rhinitis*
Autor: Sousa-Pinto, B. Azevedo, L.F. Jutel, M. Agache, I. Canonica, G.W. Czarlewski, W. Papadopoulos, N.G. Bergmann, K.-C. Devillier, P. Laune, D. Klimek, L. Anto, A. Anto, J.M. Eklund, P. Almeida, R. Bedbrook, A. Bosnic-Anticevich, S. Brough, H.A. Brussino, L. Cardona, V. Casale, T. Cecchi, L. Charpin, D. Chivato, T. Costa, E.M. Cruz, A.A. Dramburg, S. Durham, S.R. De Feo, G. Gerth van Wijk, R. Fokkens, W.J. Gemicioglu, B. Haahtela, T. Illario, M. Ivancevich, J.C. Kvedariene, V. Kuna, P. Larenas-Linnemann, D.E. Makris, M. Mathieu-Dupas, E. Melén, E. Morais-Almeida, M. Mösges, R. Mullol, J. Nadeau, K.C. Pham-Thi, N. O’Hehir, R. Regateiro, F.S. Reitsma, S. Samolinski, B. Sheikh, A. Stellato, C. Todo-Bom, A. Tomazic, P.V. Toppila-Salmi, S. Valero, A. Valiulis, A. Ventura, M.T. Wallace, D. Waserman, S. Yorgancioglu, A. De Vries, G. van Eerd, M. Zieglmayer, P. Zuberbier, T. Pfaar, O. Almeida Fonseca, J. Bousquet, J.
Background: Validated combined symptom-medication scores (CSMSs) are needed to investigate the effects of allergic rhinitis treatments. This study aimed to use real-life data from the MASK-air® app to generate and validate hypothesis- and data-drive
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::e8d9f364c47c76590935301cb91b901d
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2999649
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6
Akademický článek
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.
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
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7
Parkinson’s disease–associated VPS35 mutant reduces mitochondrial membrane potential and impairs PINK1/Parkin-mediated mitophagy
Autor: Dineke S. Verbeek, Kai Yu Ma, Muriel Mari, Fulvio Reggiori, Michiel R. Fokkens
Publikováno v: Translational Neurodegeneration
Translational neurodegeneration, 10(1):19. BMC
Translational Neurodegeneration, Vol 10, Iss 1, Pp 1-17 (2021)
Background Mitochondrial dysfunction plays a prominent role in the pathogenesis of Parkinson’s disease (PD), and several genes linked to familial PD, including PINK1 (encoding PTEN-induced putative kinase 1 [PINK1]) and PARK2 (encoding the E3 ubiqu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cc1802e23db12dd756331ed827668f3
http://europepmc.org/articles/PMC8204421
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8
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia
Autor: Esther A. R. Nibbeling, Monique H.M. Vlak, Cleo J. L. M. Smeets, Bart P.C. van de Warrenburg, Cleo C. van Diemen, Berry Kremer, Corien C. Verschuuren-Bemelmans, Anna Duarri, Lude Franke, Richard J. Sinke, Juha Karjalainen, Dineke S. Verbeek, Giovana B Bampi, Noam Adir, Elly F. Ippel, Cisca Wijmenga, Gerben van der Vries, Dennis Dooijes, Michiel R. Fokkens, Ewout R. Brunt, Jelkje J. de Boer-Bergsma
Publikováno v: Brain, 140, 11, pp. 2860-2878
Brain, 140(11), 2860-2878. Oxford University Press
Brain, 140(11), 2860. Oxford University Press
Brain, 140, 2860-2878
Item does not contain fulltext The autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic nomenclature, are a rare group of progressive neurodegenerative disorders characterized by loss of balance and coordination. D
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5b05b45c0ac8a968fd9e2a0ff4f1078
https://hdl.handle.net/2066/182488
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9
Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases
Autor: Jean-Yves Goas, Justyna Jezierska, Alexis Brice, Dineke S. Verbeek, Hiroyuki Watanabe, Alexandra Durr, Fabien Zagnoli, Christophe Robin, Pierre Bertrand, Michiel R. Fokkens, Giovanni Stevanin, Jerome Kok, Georgy Bakalkin
Publikováno v: Journal of Neurology, 260(7), 1807-1812. SPRINGER HEIDELBERG
We have recently identified missense mutations in prodynorphin (PDYN), the precursor to dynorphin opioid peptides, as the cause for spinocerebellar ataxia (SCA23) in Dutch ataxia cases. We report a screen of PDYN for mutations in 371 cerebellar ataxi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2c0038601c7adde0e9dc8e4d41254d5
https://research.rug.nl/en/publications/7e1a2a2b-e42d-4cff-8b2b-c0eb1a376095
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10
Inhibition of CXCR3-mediated chemotaxis by the human chemokine receptor-like protein CCX-CKR
Autor: Hendrikus Boddeke, Nieske Brouwer, Michiel R. Fokkens, Michel Meijer, Anne O. Watts, Jonathan Vinet, Dennis Verzijl, I. M. Dijkstra, van Hilmar Weering, Martine J. Smit, Vishnu Kannan, M. van Zwam, Rob Leurs, Henry F. Vischer, Knut Biber
Publikováno v: British Journal of Pharmacology. 168:1375-1387
Background and Purpose Induction of cellular migration is the primary effect of chemokine receptor activation. However, several chemokine receptor-like proteins bind chemokines without subsequent induction of intracellular signalling and chemotaxis.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f9970035fa6373644e1b654218e70707
https://doi.org/10.1111/bph.12042
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