Cytoskeletal disorganization underlies PABPN1-mediated myogenic disability
Olie, Cyriel Sebastiaan, van der Wal, Erik, Cikes, Domagoj, Maton, Loes, de Greef, Jessica C., Lin, I.-Hsuan, Chen, Yi-Fan, Kareem, Elsayad, Penninger, Josef M., Kessler, Benedikt M., Raz, Vered
Published in Scientific reports (19.10.2020)
Published in Scientific reports (19.10.2020)
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Author Correction: Cytoskeletal disorganization underlies PABPN1-mediated myogenic disability
Olie, Cyriel Sebastiaan, van der Wal, Erik, Cikes, Domagoj, Maton, Loes, de Greef, Jessica C., Lin, I.-Hsuan, Chen, Yi-Fan, Kareem, Elsayad, Penninger, Josef M., Kessler, Benedikt M., Raz, Vered
Published in Scientific reports (15.03.2021)
Published in Scientific reports (15.03.2021)
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Facioscapulohumeral muscular dystrophy: the road to targeted therapies
Tihaya, Mara S., Mul, Karlien, Balog, Judit, de Greef, Jessica C., Tapscott, Stephen J., Tawil, Rabi, Statland, Jeffrey M., van der Maarel, Silvère M.
Published in Nature reviews. Neurology (01.02.2023)
Published in Nature reviews. Neurology (01.02.2023)
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Mouse models for muscular dystrophies: an overview
van Putten, Maaike, Lloyd, Erin M, de Greef, Jessica C, Raz, Vered, Willmann, Raffaella, Grounds, Miranda D
Published in Disease models & mechanisms (21.02.2020)
Published in Disease models & mechanisms (21.02.2020)
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USP18 is an essential regulator of muscle cell differentiation and maturation
Olie, Cyriel Sebastiaan, Pinto-Fernández, Adán, Damianou, Andreas, Vendrell, Iolanda, Mei, Hailiang, den Hamer, Bianca, van der Wal, Erik, de Greef, Jessica C., Raz, Vered, Kessler, Benedikt M.
Published in Cell death & disease (31.03.2023)
Published in Cell death & disease (31.03.2023)
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SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease
Tapia del Fierro, Andres, den Hamer, Bianca, Benetti, Natalia, Jansz, Natasha, Chen, Kelan, Beck, Tamara, Vanyai, Hannah, Gurzau, Alexandra D., Daxinger, Lucia, Xue, Shifeng, Ly, Thanh Thao Nguyen, Wanigasuriya, Iromi, Iminitoff, Megan, Breslin, Kelsey, Oey, Harald, Krom, Yvonne D., van der Hoorn, Dinja, Bouwman, Linde F., Johanson, Timothy M., Ritchie, Matthew E., Gouil, Quentin A., Reversade, Bruno, Prin, Fabrice, Mohun, Timothy, van der Maarel, Silvère M., McGlinn, Edwina, Murphy, James M., Keniry, Andrew, de Greef, Jessica C., Blewitt, Marnie E.
Published in Nature communications (25.09.2023)
Published in Nature communications (25.09.2023)
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Meeting report: the 2021 FSHD International Research Congress
Jagannathan, Sujatha, de Greef, Jessica C, Hayward, Lawrence J, Yokomori, Kyoko, Gabellini, Davide, Mul, Karlien, Sacconi, Sabrina, Arjomand, Jamshid, Kinoshita, June, Harper, Scott Q
Published in Skeletal muscle (17.01.2022)
Published in Skeletal muscle (17.01.2022)
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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)
Published in Human mutation (01.10.2009)
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Systemic delivery of a DUX4-targeting antisense oligonucleotide to treat facioscapulohumeral muscular dystrophy
Bouwman, Linde F., den Hamer, Bianca, van den Heuvel, Anita, Franken, Marnix, Jackson, Michaela, Dwyer, Chrissa A., Tapscott, Stephen J., Rigo, Frank, van der Maarel, Silvère M., de Greef, Jessica C.
Published in Molecular therapy. Nucleic acids (03.12.2021)
Published in Molecular therapy. Nucleic acids (03.12.2021)
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A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle
In 't Groen, Stijn L M, Franken, Marnix, Bock, Theresa, Krüger, Marcus, de Greef, Jessica C, Pijnappel, W W M Pim
Published in Skeletal muscle (22.02.2024)
Published in Skeletal muscle (22.02.2024)
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Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2
DE GREEF, Jessica C, JUN WANG, GENNERY, Andrew R, GIMELLI, Giorgio, REISLI, Ismail, SCHUETZ, Catharina, SCHULZ, Ansgar, SMEETS, Dominique F. C. M, SZNAJER, Yves, WIJMENGA, Cisca, VAN EGGERMOND, Marja C, VAN OSTAIJEN-TEN DAM, Monique M, BALOG, Judit, LANKESTER, Arjan C, VAN TOL, Maarten J. D, VAN DEN ELSEN, Peter J, WEEMAES, Corry M, VAN DER MAAREL, Silvere M, DEN DUNNEN, Johan T, FRANTS, Rune R, STRAASHEIJM, Kirsten R, AYTEKIN, Caner, VAN DER BURG, Mirjam, DUPREZ, Laurence, FERSTER, Alina
Published in American journal of human genetics (10.06.2011)
Published in American journal of human genetics (10.06.2011)
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Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients
van der Wal, Erik, den Hamer, Bianca, van der Vliet, Patrick J., Tok, Merve, Brands, Tom, Eussen, Bert, Lemmers, Richard J.L.F., Freund, Christian, de Klein, Annelies, Buijsen, Ronald A.M., van Roon-Mom, Willeke M.C., Tawil, Rabi, van der Maarel, Silvère M., de Greef, Jessica C.
Published in Stem cell research (01.10.2019)
Published in Stem cell research (01.10.2019)
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Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD
Balog, Judit, Thijssen, Peter E., de Greef, Jessica C., Shah, Bharati, van Engelen, Baziel G.M., Yokomori, Kyoko, Tapscott, Stephen J., Tawil, Rabi, van der Maarel, Silvère M.
Published in Epigenetics (01.06.2012)
Published in Epigenetics (01.06.2012)
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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, Petek, Lisa M, Balog, Judit, Block, Gregory J, Santen, Gijs W E, Amell, Amanda M, van der Vliet, Patrick J, Almomani, Rowida, Straasheijm, Kirsten R, Krom, Yvonne D, Klooster, Rinse, Sun, Yu, 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, 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, Silvère M
Published in Nature genetics (01.12.2012)
Published in Nature genetics (01.12.2012)
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Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
Thijssen, Peter E., Ito, Yuya, Grillo, Giacomo, Wang, Jun, Velasco, Guillaume, Nitta, Hirohisa, Unoki, Motoko, Yoshihara, Minako, Suyama, Mikita, Sun, Yu, Lemmers, Richard J. L. F., de Greef, Jessica C., Gennery, Andrew, Picco, Paolo, Kloeckener-Gruissem, Barbara, Güngör, Tayfun, Reisli, Ismail, Picard, Capucine, Kebaili, Kamila, Roquelaure, Bertrand, Iwai, Tsuyako, Kondo, Ikuko, Kubota, Takeo, van Ostaijen-Ten Dam, Monique M., van Tol, Maarten J. D., Weemaes, Corry, Francastel, Claire, van der Maarel, Silvère M., Sasaki, Hiroyuki
Published in Nature communications (28.07.2015)
Published in Nature communications (28.07.2015)
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The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy
Bouwman, Linde F, van der Maarel, Silvère M, de Greef, Jessica C
Published in Current opinion in neurology (01.10.2020)
Published in Current opinion in neurology (01.10.2020)
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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)
Zeng, Weihua, de Greef, Jessica C, Chen, Yen-Yun, Chien, Richard, Kong, Xiangduo, Gregson, Heather C, Winokur, Sara T, Pyle, April, Robertson, Keith D, Schmiesing, John A, Kimonis, Virginia E, Balog, Judit, Frants, Rune R, Ball, Jr., Alexander R, Lock, Leslie F, Donovan, Peter J, van der Maarel, Silvere M, Yokomori, Kyoko
Published in PLoS genetics (01.07.2009)
Published in PLoS genetics (01.07.2009)
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Protective role for the N-terminal domain of α-dystroglycan in Influenza A virus proliferation
de Greef, Jessica C., Slütter, Bram, Anderson, Mary E., Hamlyn, Rebecca, Landa, Raul O’Campo, McNutt, Ellison J., Hara, Yuji, Pewe, Lecia L., Venzke, David, Matsumura, Kiichiro, Saito, Fumiaki, Harty, John T., Campbell, Kevin P.
Published in Proceedings of the National Academy of Sciences - PNAS (04.06.2019)
Published in Proceedings of the National Academy of Sciences - PNAS (04.06.2019)
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Highly contractile 3D tissue engineered skeletal muscles from human iPSCs reveal similarities with primary myoblast-derived tissues
van der Wal, Erik, Iuliano, Alessandro, in ’t Groen, Stijn L.M., Bholasing, Anjali P., Priesmann, Dominik, Sharma, Preeti, den Hamer, Bianca, Saggiomo, Vittorio, Krüger, Marcus, Pijnappel, W.W.M. Pim, de Greef, Jessica C.
Published in Stem cell reports (10.10.2023)
Published in Stem cell reports (10.10.2023)
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