Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
LEMMERS, Richard J. L. F, TAWIL, Rabi, KROM, Yvonne D, KLOOSTER, Rinse, YU SUN, DEN DUNNEN, Johan T, HELMER, Quinta, DONLIN-SMITH, Colleen M, PADBERG, George W, VAN ENGELEN, Baziel G. M, DE GREEF, Jessica C, AARTSMA-RUS, Annemieke M, PETEK, Lisa M, FRANTS, Rune R, DE VISSER, Marianne, DESNUELLE, Claude, SACCONI, Sabrina, FILIPPOVA, Galina N, BAKKER, Bert, BAMSHAD, Michael J, TAPSCOTT, Stephen J, MILLER, Daniel G, VAN DER MAAREL, Silvere M, BALOG, Judit, BLOCK, Gregory J, SANTEN, Gijs W. E, AMELL, Amanda M, VAN DER VLIET, Patrick J, ALMOMANI, Rowida, STRAASHEIJM, Kirsten R
Published in Nature genetics (01.12.2012)
Published in Nature genetics (01.12.2012)
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Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Lemmers, Richard J.L.F, van der Vliet, Patrick J, Klooster, Rinse, Sacconi, Sabrina, Camaño, Pilar, Dauwerse, Johannes G, Snider, Lauren, Straasheijm, Kirsten R, Jan van Ommen, Gert, Padberg, George W, Miller, Daniel G, Tapscott, Stephen J, Tawil, Rabi, Frants, Rune R, van der Maarel, Silvère M
Published in Science (American Association for the Advancement of Science) (24.09.2010)
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Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD
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Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2
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Published in American journal of human genetics (10.06.2011)
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High cortical spreading depression susceptibility and migraine-associated symptoms in Cav2.1 S218L mice
van den Maagdenberg, Arn M. J. M., Pizzorusso, Tommaso, Kaja, Simon, Terpolilli, Nicole, Shapovalova, Maryna, Hoebeek, Freek E., Barrett, Curtis F., Gherardini, Lisa, van de Ven, Rob C. G., Todorov, Boyan, Broos, Ludo A. M., Tottene, Angelita, Gao, Zhenyu, Fodor, Mariann, De Zeeuw, Chris I., Frants, Rune R., Plesnila, Nikolaus, Plomp, Jaap J., Pietrobon, Daniela, Ferrari, Michel D.
Published in Annals of neurology (01.01.2010)
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Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity
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Published in PloS one (05.11.2010)
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Molecular genetics of migraine
de Vries, Boukje, Frants, Rune R, Ferrari, Michel D, van den Maagdenberg, Arn M. J. M
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Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
de Greef, Jessica C, Lemmers, Richard J.L.F, van Engelen, Baziel G.M, Sacconi, Sabrina, Venance, Shannon L, Frants, Rune R, Tawil, Rabi, van der Maarel, Silvère M
Published in Human mutation (01.10.2009)
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Alpha-1 antitrypsin Null mutations and severity of emphysema
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Published in Respiratory medicine (01.06.2008)
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Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)
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Published in PLoS genetics (01.07.2009)
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Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy
Lemmers, Richard J.L.F., Wohlgemuth, Mariëlle, van der Gaag, Kristiaan J., van der Vliet, Patrick J., van Teijlingen, Corrie M.M., de Knijff, Peter, Padberg, George W., Frants, Rune R., van der Maarel, Silvère M.
Published in American journal of human genetics (01.11.2007)
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Increased Risk of Cancer Other Than Melanoma in CDKN2A Founder Mutation (p16-Leiden)-Positive Melanoma Families
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Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution
Lemmers, Richard J.L.F., van der Vliet, Patrick J., van der Gaag, Kristiaan J., Zuniga, Sofia, Frants, Rune R., de Knijff, Peter, van der Maarel, Silvère M.
Published in American journal of human genetics (12.03.2010)
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High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice
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Genetic Architecture of Plasma Adiponectin Overlaps With the Genetics of Metabolic Syndrome-Related Traits
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Migraine is not associated with enhanced atherosclerosis
Stam, Anine H, Weller, Claudia M, Janssens, A Cecile JW, Aulchenko, Yurii S, Oostra, Ben A, Frants, Rune R, van den Maagdenberg, Arn MJM, Ferrari, Michel D, van Duijn, Cornelia M, Terwindt, Gisela M
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AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration
Huang, Yanchao, Laval, Steven H, van Remoortere, Alexandra, Baudier, Jacques, Benaud, Chriselle, Anderson, Louise V.B, Straub, Volker, Deelder, Andre, Frants, Rune R, den Dunnen, Johan T, Bushby, Kate, van der Maarel, Silvère M
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