Zobrazeno 1 - 10
of 500
pro vyhledávání: '"Rune R Frants"'
Autor:
Tracey D. Graves, Paola Imbrici, Esther E. Kors, Gisela M. Terwindt, Louise H. Eunson, Rune R. Frants, Joost Haan, Michel D. Ferrari, Peter J. Goadsby, Michael G. Hanna, Arn M.J.M. van den Maagdenberg, Dimitri M. Kullmann
Publikováno v:
Neurobiology of Disease, Vol 32, Iss 1, Pp 10-15 (2008)
Premature stop codons in CACNA1A, which encodes the α1A subunit of neuronal P/Q-type (CaV2.1) Ca2+ channels, cause episodic ataxia type 2 (EA2). CACNA1A undergoes extensive alternative splicing, which contributes to the pharmacological and kinetic h
Externí odkaz:
https://doaj.org/article/21e51697b439456988627ed3288dc518
Autor:
Corina J.A. Moen, Aart P. Tholens, Peter J. Voshol, Willeke de Haan, Louis M. Havekes, Peter Gargalovic, Aldons J. Lusis, Ko Willems van Dȳk, Rune R. Frants, Marten H. Hofker, Patrick C.N. Rensen
Publikováno v:
Journal of Lipid Research, Vol 48, Iss 10, Pp 2182-2192 (2007)
The Hyplip2 congenic mouse strain contains part of chromosome 15 from MRL/MpJ on the BALB/cJ background. Hyplip2 mice show increased plasma levels of cholesterol and predominantly triglycerides (TGs) and are susceptible to diet-induced atherosclerosi
Externí odkaz:
https://doaj.org/article/0b85f06617064831b97c73353612aa91
Autor:
Luciana R. Lopes, Mario Fernando Prieto Peres, Kaate R.J. Vanmolkot, Patrícia R. Tobo, Eliova Zukerman, Rune R. Frants, Arn M.J.M. van den Maagdenberg, Carlos Alberto Moreira-Filho
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 64, Iss 3a, Pp 549-552 (2006)
Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes. The aim of this study was to identify whether CACNA1A and ATP1A2 are
Externí odkaz:
https://doaj.org/article/69b718fa49b649ac9f11843e8a1ea121
Autor:
Yvonne D Krom, Peter E Thijssen, Janet M Young, Bianca den Hamer, Judit Balog, Zizhen Yao, Lisa Maves, Lauren Snider, Paul Knopp, Peter S Zammit, Tonnie Rijkers, Baziel G M van Engelen, George W Padberg, Rune R Frants, Rabi Tawil, Stephen J Tapscott, Silvère M van der Maarel
Publikováno v:
PLoS Genetics, Vol 9, Iss 4, p e1003415 (2013)
Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each
Externí odkaz:
https://doaj.org/article/83a1bd1783864485aea4de89cfb665bb
Autor:
Antoine de Morrée, Paul J Hensbergen, Herman H H B M van Haagen, Irina Dragan, André M Deelder, Peter A C 't Hoen, Rune R Frants, Silvère M van der Maarel
Publikováno v:
PLoS ONE, Vol 5, Iss 11, p e13854 (2010)
Dysferlin is critical for repair of muscle membranes after damage. Mutations in dysferlin lead to a progressive muscular dystrophy. Recent studies suggest additional roles for dysferlin. We set out to study dysferlin's protein-protein interactions to
Externí odkaz:
https://doaj.org/article/1dd15b3fcdfc43de9e54fb4e35ef5214
Autor:
Antoine de Morrée, David Lutje Hulsik, Antonietta Impagliazzo, Herman H H B M van Haagen, Paula de Galan, Alexandra van Remoortere, Peter A C 't Hoen, Gertjan B van Ommen, Rune R Frants, Silvère M van der Maarel
Publikováno v:
PLoS ONE, Vol 5, Iss 8, p e11940 (2010)
Calpain 3 (CAPN3) is a cysteine protease that when mutated causes Limb Girdle Muscular Dystrophy 2A. It is thereby the only described Calpain family member that genetically causes a disease. Due to its inherent instability little is known of its subs
Externí odkaz:
https://doaj.org/article/1c698ab563c4460f95f66cf1994b8e3f
Autor:
Weihua Zeng, Jessica C de Greef, Yen-Yun Chen, Richard Chien, Xiangduo Kong, Heather C Gregson, Sara T Winokur, April Pyle, Keith D Robertson, John A Schmiesing, Virginia E Kimonis, Judit Balog, Rune R Frants, Alexander R Ball, Leslie F Lock, Peter J Donovan, Silvère M van der Maarel, Kyoko Yokomori
Publikováno v:
PLoS Genetics, Vol 5, Iss 7, p e1000559 (2009)
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in which no mutation of pathogenic gene(s) has been identified. Instead, the disease is, in most cases, genetically linked to a contraction in the number of 3.3 kb D4Z4
Externí odkaz:
https://doaj.org/article/79fbf42c8f214f03adcf8266e53ad4ab
Autor:
Arn M. J. M. van den Maagdenberg, Boukje de Vries, Stephany C. Koelewijn, Boyan Todorov, Peter A C 't Hoen, Else Eising, Rune R. Frants, Ludo A. M. Broos, Judith M. Boer, Michel D. Ferrari
Publikováno v:
Cephalalgia
Cephalalgia, 34(3), 174-182
Cephalalgia, 34(3), 174-182
Background Various CACNA1A missense mutations cause familial hemiplegic migraine type 1 (FHM1), a rare monogenic subtype of migraine with aura. FHM1 mutation R192Q is associated with pure hemiplegic migraine, whereas the S218L mutation causes hemiple
Autor:
A. Cecile J.W. Janssens, Arn M. J. M. van den Maagdenberg, Cornelia M. van Duijn, Ben A. Oostra, Gisela M. Terwindt, Michel D. Ferrari, Claudia M Weller, Anine H. Stam, Yurii S. Aulchenko, Rune R. Frants
Publikováno v:
Cephalalgia, 33(4), 228-235
Cephalalgia, 33(4), 228-235. SAGE Publications Ltd
Cephalalgia, 33(4), 228-235. SAGE Publications Ltd
Aim Migraine, in particular with aura, has been associated with an increased risk for ischemic stroke and coronary heart disease. The underlying mechanism is unknown. In a cross-sectional case control study we investigated whether an enhanced risk of
Autor:
Daniel P. Joseph, Paulus T. V. M. de Jong, Todd A. Hardy, John P. Atkinson, Rula A. Hajj-Ali, Martin Dichgans, Parul H. Kothari, Aisha Shaikh, Elizabeth M. Brunt, M. Gilbert Grand, Suzanne Hodgkinson, Arn M. J. M. van den Maagdenberg, Michael Hayes, Grant R. Kolar, Marc D. de Smet, Andreas Gschwendter, Ingeborg M. Bajema, Gisela M. Terwindt, Rune R. Frants, Greet Dijkman, Mark C. Kruit, Anine H. Stam, Didi De Wolff-Rouendaal, Mark A. van Buchem, Joanna C. Jen, Michel D. Ferrari, Sjoerd G. van Duinen, Robert W. Baloh, Katya E. Kotschet, Joost Haan, Robert E. Schmidt, David R. Fintak, Nadine Pelzer, Peter A. Kempster, Helen Liapis, Marion L.C. Maat-Schieman, Jo Anne Lacey
Publikováno v:
Brain: a journal of neurology, 139, 2909-2922. Oxford University Press
Brain, 139, 2909-2922
Brain
Brain, 139(11), 2909-2922. Oxford University Press
Brain, 139, 2909-2922
Brain
Brain, 139(11), 2909-2922. Oxford University Press
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ad6047e335fee2baa8f8a376acd1a67
https://pure.knaw.nl/portal/en/publications/fddf1e0a-2601-43a4-bc48-5f76f66e7608
https://pure.knaw.nl/portal/en/publications/fddf1e0a-2601-43a4-bc48-5f76f66e7608