Hasil Pencarian - Rune R Frants
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Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity. oleh 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
Diterbitkan 2010-01-01
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2
Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families oleh 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
Diterbitkan 2006-09-01
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3
The Hyplip2 locus causes hypertriglyceridemia by decreased clearance of triglyceridess⃞ oleh 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
Diterbitkan 2007-10-01
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4
Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling. oleh 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
Diterbitkan 2010-01-01
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5
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2 oleh 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
Diterbitkan 2008-10-01
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Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. oleh 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
Diterbitkan 2013-04-01
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Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). oleh 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
Diterbitkan 2009-07-01
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