Silvere van der Maarel
Hoogleraar Medische Epigenetica
- Naam
- Prof.dr.ir. S.M. van der Maarel
- Telefoon
- +31 71 526 9480
- s.m.van_der_maarel@lumc.nl
- ORCID iD
- 0000-0001-8103-711X
Silvère M. van der Maarel is hoogleraar Medische Epigenetica en hoofd van de afdeling Humane Genetica. Tevens is hij trekker van het LUMC profileringsgebied Translational Neuroscience en coördinator van het universitaire profileringsgebied Bioscience: the science base of health. Hij is co-director van het het Richard Fields Center for FSHD Research en van het Spieren voor Spieren Expertise Centrum FSHD.
Meer informatie over Silvere van der Maarel
Silvère M. van der Maarel is hoogleraar Medische Epigenetica en hoofd van de afdeling Humane Genetica. Tevens is hij trekker van het LUMC profileringsgebied Translational Neuroscience en coördinator van het universitaire profileringsgebied Bioscience: the science base of health. Hij is co-director van het het Richard Fields Center for FSHD Research en van het Spieren voor Spieren Expertise Centrum FSHD.
Medische epigenetica
Van der Maarel werd al vroeg in zijn loopbaan getroffen door de observatie dat genomische veranderingen op grote afstand van ziektegenen tot zeer specifieke ziektebeelden kunnen leiden. Blijkbaar zit het genoom enorm complex in elkaar. Hoe wordt de expressie van genen gereguleerd? Hoe is ons genoom gestructureerd en wat is de rol van gerepeteerd DNA? Aan de hand van zeldzame ziekten, waaronder een van de meest fascinerende spierziekten, facioscapulohumerale spierdystrofie, probeert Van der Maarel inzicht te krijgen in de vele epigenetische facetten van ons genoom.
Epigenetische processen in de cel zijn dynamische processen en worden daarom beschouwd als veelbelovende aangrijpingspunten voor het ontwikkelen van medicijnen voor de groep van zeldzame ziekten waarin gendefecten epigenetische veranderingen in het genoom veroorzaken. Zijn onderzoek richt zich dan ook veelal op de vertaling van zijn bevindingen naar klinisch relevante uitkomsten: van verbetering van diagnostiek tot identificeren van nieuwe therapeutische mogelijkheden.
Wetenschappelijk carrière
Na de afronding van zijn studie Moleculaire Wetenschappen aan de Wageningen Universiteit, heeft Silvère M. van der Maarel zijn promotieonderzoek uitgevoerd bij de afdeling Humane Genetica van het RadboudUMC Nijmegen. De titel van zijn proefschrift (1997) luidt ‘Cloning of a gene for X-linked deafness and a candidate gene for X-linked mental retardation’. Na een kort verblijf aan het Max Planck Center for Molecular Biology (Berlijn) vervolgde Van der Maarel zijn carrière bij de afdeling Humane Genetica van het Leids Universitair Medisch Centrum. Hij werd in juli 2006 benoemd tot hoogleraar Medische Epigenetica van het Leids Universitair Medisch Centrum. Op 25 mei 2007 sprak hij zijn oratie uit met de titel ‘Wat beweegt ons?’. Vanaf september 2012 is hij hoofd van de afdeling Humane Genetica.
Gedurende zijn carrière onderzoekt Van der Maarel de rol van epigenetische veranderingen in het ontstaan van zeldzame ziektes. Hij is co-auteur op ruim 200 publicaties, waaronder opinievormende reviews en boekhoofdstukken. Hij is mede-oprichter van het Richard Fields Center for FSHD, een trans-Atlantisch samenwerkingsverband voor onderzoek naar, en de ontwikkeling van een therapie voor de spierziekte FSHD. Hij is tevens mede-oprichter van het Spieren voor Spieren Expertise Centrum FSHD, een samenwerking tussen het LUMC en het Radboud UMC met als doel om FSHD zorg en onderzoek te harmoniseren.
Prijzen en eervolle benoemingen
Van der Maarel is een Gisela Thier fellow van het LUMC (2000). Voor zijn bijdrage aan het FSHD onderzoek ontving hij een FSH Society Fellowship (1998), de Young Myologist of the Year Award van de World Muscle Society (2005), de Prinses Beatrix Fonds Onderzoeksprijs (2014) en de FSH Society Pioneer carrière prestatie prijs in 2016.
Volg S.M. van der Maarel
Hoogleraar Medische Epigenetica
- Faculteit Geneeskunde
- Divisie 4
- Humane Genetica
- Efthymiou, S.; Lemmers, R.J.L.F.; Vishnu, V.Y.; Dominik, N.; Perrone, B.; Facchini, S.; Vegezzi, E.; Ravaglia, S.; Wilson, L.; Vliet, P.J. van der; Mishra, R.; Reyaz, A.; Ahmad, T.; Bhatia, R.; Polke, J.M.; Srivastava, M.P.; Cortese, A.; Houlden, H.; Maarel, S.M. van der; Hanna, M.G. & Bugiardini, E. (2023), Optical genome mapping for the molecular diagnosis of facioscapulohumeral muscular dystrophy, Biomolecules 13(11).
- Wilson, L.A.; Macken, W.L.; Perry, L.D.; Record, C.J.; Schon, K.R.; Frezatti, R.S.S.; Raga, S.; Naidu, K.; Köken, Ö.Y.; Polat, I.; Kapapa, M.M.; Dominik, N.; Efthymiou, S.; Morsy, H.; Nel, M.; Fassad, M.R.; Gao, F.; Patel, K.; Schoonen, M.; Bisschoff, M.; Vorster, A.; Jonvik, H.; Human, R.; Lubbe, E.; Nonyane, M.; Vengalil, S.; Nashi, S.; Srivastava, K.; Lemmers, R.J.L.F.; Reyaz, A.; Mishra, R.; Töpf, A.; Trainor, C.I.; Steyn, E.C.; Mahungu, A.C.; Vliet, P.J. van der; Ceylan, A.C.; Hiz, A.S.; Çavdarli, B.; Gündüz, C.N.S.; Ceylan, G.G.; Nagappa, M.; Tallapaka, K.B.; Govindaraj, P.; Maarel, S.M. van der; Narayanappa, G.; Nandeesh, B.N.; Somwe, S.W.; Bearden, D.R.; Kvalsund, M.P.; Ramdharry, G.M.; Oktay, Y.; Yis, U.; Topaloglu, H.; Sarkozy, A.; Bugiardini, E.; Henning, F.; Wilmshurst, J.M.; Heckmann, J.M.; McFarland, R.; Taylor, R.W.; Smuts, I.; Westhuizen, F.H. van der; Sobreira, C.F.D.; Tomaselli, P.J.; Marques, W.; Bhatia, R.; Dalal, A.; Srivastava, M.V.P.; Yareeda, S.; Nalini, A.; Vishnu, V.Y.; Thangaraj, K.; Straub, V.; Horvath, R.; Chinnery, P.F.; Pitceathly, R.D.S.; Muntoni, F.; Houlden, H.; Vandrovcova, J.; Reilly, M.M. & Hanna, M.G. (2023), Neuromuscular disease genetics in under-represented populations, Brain 146(12).
- Lemmers, R.J.L.F.; Butterfield, R.; Vliet, P.J. van der; Bleecker, J.L. de; Pol, L. van der; Dunn, D.M.; Erasmus, C.E.; D'Hooghe, M.; Verhoeven, K.; Balog, J.; Bigot, A.; Engelen, B. van; Statland, J.; Bugiardini, E.; Stoep, N. van der; Evangelista, T.; Marini-Bettolo, C.; Bergh, P. van den; Tawil, R.; Voermans, N.C.; Vissing, J.; Weiss, R.B. & Maarel, S.M. van der (2023), Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy, Brain.
- Tihaya, M.S.; Mul, K.; Balog, J.; Greef, J.C. de; Tapscott, S.J.; Tawil, R.; Statland, J.M. & Maarel, S.M. van der (2023), Facioscapulohumeral muscular dystrophy: the road to targeted therapies, Nature Reviews Neurology 19(2): 91-108.
- Guruju, N.M.; Jump, V.; Lemmers, R.; Maarel, S. van der; Liu, R.; Nallamilli, B.R.; Shenoy, S.; Chaubey, A.; Koppikar, P.; Rose, R.; Khadilkar, S. & Hegde, M. (2023), Molecular diagnosis of facioscapulohumeral muscular dystrophy in patients clinically suspected of FSHD using optical genome mapping, Neurology Genetics 9(6).
- Sikrová, D.; Testa, A.M.; Willemsen, I.; Heuvel, A. van den; Tapscott, S.J.; Daxinger, L.; Balog, J. & Maarel, S.M. van der (2023), SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action, Communications Biology 6(1).
- Fierro, A.T. del; Hamer, B. den; Benetti, N.; Jansz, N.; Chen, K.L.; Beck, T.; Vanyai, H.; Gurzau, A.D.; Daxinger, L.; Xue, S.F.; Ly, T.T.N.; Wanigasuriya, I.; Iminitoff, M.; Breslin, K.; Oey, H.; Krom, Y.D.; Hoorn, D. van der; Bouwman, L.F.; Johanson, T.M.; Ritchie, M.E.; Gouil, Q.A.; Reversade, B.; Prin, F.; Mohun, T.; Maarel, S.M. van der; Mcglinn, E.; Murphy, J.M.; Keniry, A.; Greef, J.C. de & Blewitt, M.E. (2023), SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease, Nature Communications 14(1).
- Paardekooper, L.M.; Fillié-Grijpma, Y.E.; Sluijs-gelling, A.J. van der; Zlei, M.; Doorn, R. van; Vermeer, M.H.; Paunovic, M.; Titulaer, M.J.; Maarel, S.M. van der; Dongen, J.J.M. van; Verschuuren, J.J.; Huijbers, M.G. & T2B Consortium (2023), Autoantibody subclass predominance is not driven by aberrant class switching or impaired B cell development, Clinical Immunology 257.
- Lim, J.L.; Augustinus, R.; Plomp, J.J.; Roya-Kouchaki, K.; Vergoossen, D.L.E.; Fillie-Grijpma, Y.; Struijk, J.; Thomas, R.; Salvatori, D.; Steyaert, C.; Blanchetot, C.; Vanhauwaert, R.; Silence, K.; Maarel, S.M. van der; Verschuuren, J.J. & Huijbers, M.G. (2023), Development and characterization of agonistic antibodies targeting the Ig-like 1 domain of MuSK, Scientific Reports 13(1).
- Smith, A.A.; Nip, Y.; Bennett, S.R.; Hamm, D.C.; Lemmers, R.J.L.F.; Vliet, P.J. van der; Setty, M.; Maarel, S.M. van der & Tapscott, S.J. (2023), DUX4 expression in cancer induces a metastable early embryonic totipotent program, Cell Reports 42(9).
- Vergoossen, D.L.E.; Plomp, J.J.; Gstottner, C.J.; Fillie-Grijpma, Y.E.; Augustinus, R.; Verpalen, R.L.K.; Wuhrer, M.; Parren, P.W.H.I.; Dominguez-Vega, E.; Maarel, S.M. van der; Verschuuren, J.J.G.M. & Huijbers, M.G. (2022), FUNCTIONAL MONOVALENCY AMPLIFIES THE PATHOGENICITY OF ANTI-MUSK IGG4 IN MYASTHENIA GRAVIS, Muscle & Nerve 65: S10-S10.
- Vergoossen, D.L.E.; Ruiter, A.M.; Keene, K.R.; Niks, E.H.; Tannemaat, M.R.; Strijbos, E.; Lipka, A.F.; Zijde, E.C.J. van der; Tol, M.J.D. van; Bakker, J.A.; Wevers, B.A.; Westerberg, E.; Tong, O.C.; Richman, D.P.; Illa, I.; Punga, A.R.; Evoli, A.; Maarel, S.M. van der; Verschuuren, J.J.; Huijbers, M.G. & Borgesf, L.S. (2022), Enrichment of serum IgG4 in MuSK myasthenia gravis patients, Journal of Neuroimmunology 373.
- Heuvel, A. van den; Lassche, S.; Mul, K.; Greco, A.; Granado, D.S.; Heerschap, A.; Kusters, B.; Tapscott, S.J.; Voermans, N.C.; Engelen, B.G.M. van & Maarel, S.M. van der (2022), Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers, Scientific Reports 12(1).
- Lemmers, R.J.L.F.; Vliet, P.J. van der; Granado, D.S.; Stoep, N. van der; Buermans, H.; Schendel, R. van; Schimmel, J.; Visser, M. de; Coster, R. van; Jeanpierre, M.; Laforet, P.; Upadhyaya, M.; Engelen, B. van; Sacconi, S.; Tawil, R.; Voermans, N.C.; Rogers, M. & Maarel, S.M. van der (2022), High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect, Human Molecular Genetics 31(5): 748-760.
- Bruels, C.C.; Littel, H.R.; Daugherty, A.L.; Stafki, S.; Estrella, E.A.; McGaughy, E.S.; Truong, D.; Badalamenti, J.P.; Pais, L.; Ganesh, V.S.; O'Donnell-Luria, A.; Stalker, H.J.; Wang, Y.; Collins, C.; Behlmann, A.; Lemmers, R.J.L.F.; Maarel, S.M. van der; Laine, R.; Ghosh, P.S.; Darras, B.T.; Zingariello, C.D.; Pacak, C.A.; Kunkel, L.M. & Kang, P.B. (2022), Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy, Annals of Clinical and Translational Neurology 9(8): 1302-1309.
- Wong, C.J.; Wang, L.; Holers, V.M.; Frazer-Abel, A.; Maarel, S.M. van der; Tawil, R.; Statland, J.M. & Tapscott, S.J. (2022), Elevated plasma complement components in facioscapulohumeral dystrophy, Human Molecular Genetics 31(11): 1821-1829.
- Lemmers, R.J.L.F.; Vliet, P.J. van der; Blatnik, A.; Balog, J.; Zidar, J.; Henderson, D.; Goselink, R.; Tapscott, S.J.; Voermans, N.C.; Tawil, R.; Padberg, G.W.A.M.; Engelen, B.G.M. van & Maarel, S.M. van der (2022), Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene, Journal of Medical Genetics 59(2): 180-188.
- Saettini, F.; Poli, C.; Vengoechea, J.; Bonanomi, S.; Orellana, J.C.; Fazio, G.; Rodriguez, F.H.; Noguera, L.P.; Booth, C.; Jarur-Chamy, V.; Shams, M.; Iascone, M.; Vukic, M.; Gasperini, S.; Quadri, M.; Seijas, A.B.; Rivers, E.; Mauri, M.; Badolato, R.; Cazzaniga, G.; Bugarin, C.; Gaipa, G.; Kroes, W.G.M.; Moratto, D.; Ostaijen-ten Dam, M.M. van; Baas, F.; Maarel, S. van der; Piazza, R.; Coban-Akdemir, Z.H.; Lupski, J.R.; Yuan, B.; Chinn, I.K.; Daxinger, L. & Biondi, A. (2021), Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency, Blood 137(4): 493-499.
- Beijer, D.; Kim, H.J.; Guo, L.; O'Donovan, K.; Mademan, I.; Deconinck, T.; Schil, K. van; Fare, C.M.; Drake, L.E.; Ford, A.F.; Kochanski, A.; Kabzinska, D.; Dubuisson, N.; Bergh, P. van den; Voermans, N.C.; Lemmers, R.J.L.F.; Maarel, S.M. van der; Bonner, D.; Sampson, J.B.; Wheeler, M.T.; Mehrabyan, A.; Palmer, S.; Jonghe, P. de; Shorter, J.; Taylor, J.P. & Baets, J. (2021), Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation, JCI Insight 6(14).
- Grow, E.J.; Weaver, B.D.; Smith, C.M.; Guo, J.T.; Stein, P.; Shadle, S.C.; Hendrickson, P.G.; Johnson, N.E.; Butterfield, R.J.; Menafra, R.; Kloet, S.L.; Maarel, S.M. van der; Williams, C.J. & Cairns, B.R. (2021), p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models, Nature Genetics 53(8): 1207-+.
- Bouwman, L.F.; Hamer, B. den; Heuvel, A. van den; Franken, M.; Jackson, M.; Dwyer, C.A.; Tapscott, S.J.; Rigo, F.; Maarel, S.M. van der & Greef, J.C. de (2021), Systemic delivery of a DUX4-targeting antisense oligonucleotide to treat facioscapulohumeral muscular dystrophy, Molecular Therapy - Nucleic Acids 26: 813-827.
- Dumke, C.; Gemoll, T.; Oberlander, M.; Freitag-Wolf, S.; Thorns, C.; Glaessgen, A.; Klooster, R.; Maarel, S.M. van der; Widengren, J.; Doehn, C.; Auer, G. & Habermann, J.K. (2021), SATB1, genomic instability and Gleason grading constitute a novel risk score for prostate cancer, Scientific Reports 11(1).
- Dongen, J. van; Gordon, S.D.; McRae, A.F.; Odintsova, V.V.; Mbarek, H.; Breeze, C.E.; Sugden, K.; Lundgren, S.; Castillo-Fernandez, J.E.; Hannon, E.; Moffitt, T.E.; Hagenbeek, F.A.; Beijsterveldt, C.E.M. van; Hottenga, J.J.; Tsai, P.C.; Min, J.L.; Hemani, G.; Ehli, E.A.; Paul, F.; Stern, C.D.; Heijmans, B.T.; Slagboom, P.E.; Daxinger, L.; Maarel, S.M. van der; Geus, E.J.C. de; Willemsen, G.; Montgomery, G.W.; Reversade, B.; Ollikainen, M.; Kaprio, J.; Spector, T.D.; Bell, J.T.; Mill, J.; Caspi, A.; Martin, N.G.; Boomsma, D.I.; Bios Consortium & Genetics DNA Methylation Consortiu (2021), Identical twins carry a persistent epigenetic signature of early genome programming, Nature Communications 12(1).
- Goossens, R.; Tihaya, M.S.; Heuvel, A. van den; Tabot-Ndip, K.; Willemsen, I.M.; Tapscott, S.J.; Gonzalez-Prieto, R.; Chang, J.G.; Vertegaal, A.C.O.; Balog, J. & Maarel, S.M. van der (2021), A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression, Scientific Reports 11(1).
- Vergoossen, D.L.; Plomp, J.J.; Gstottner, C.; Grijpma, Y.E.F.; Augustinus, R.; Verpalen, R.; Wuhrer, M.; Parren, P.W.; Vega, E.D.; Maarel, S.M. van der; Verschuuren, J.J. & Huijbers, M.G. (2021), Functional monovalency of IgG4 autoantibodies amplifies their pathogenicity in MuSK myasthenia gravis, European Journal of Immunology 51: 81-81.
- Vergoossen, D.L.E.; Plomp, J.J.; Gstottner, C.; Fillie-Grijpma, Y.E.; Augustinus, R.; Verpalen, R.; Wuhrer, M.; Parren, P.W.H.I.; Dominguez-Vega, E.; Maarel, S.M. van der; Verschuuren, J.J. & Huijbers, M.G. (2021), Functional monovalency amplifies the pathogenicity of anti-MuSK IgG4 in myasthenia gravis, Proceedings of the National Academy of Sciences 118(13).
- Greco, A.; Straasheijm, K.R.; Mul, K.; Heuvel, A. van den; Maarel, S.M. van der; Joosten, L.A.B.; Engelen, B.G.M. van & Pruijn, G.J.M. (2021), Profiling serum antibodies against muscle antigens in facioscapulohumeral muscular dystrophy finds no disease-specific autoantibodies, Journal of Neuromuscular Diseases 8(5): 801-814.
- Sikrova, D.; Cadar, V.A.; Ariyurek, Y.; Laros, J.F.J.; Balog, J. & Maarel, S.M. van der (2021), Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy, Molecular Therapy - Nucleic Acids 25: 342-354.
- Signorelli, M.; Mason, A.G.; Mul, K.; Evangelista, T.; Mei, H.; Voermans, N.; Tapscott, S.J.; Tsonaka, R.; Engelen, B.G.M. van; Maarel, S.M. van der & Spitali, P. (2020), Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients, Scientific Reports 10(1).
- Peterlin, B.; Gualandi, F.; Maver, A.; Servidei, S.; Maarel, S.M. van der; Lamy, F.; Mejat, A.; Evangelista, T. & Ferlini, A. (2020), Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network, PLoS ONE 15(9).
- Hamanaka, K.; Sikrova, D.; Mitsuhashi, S.; Masuda, H.; Sekiguchi, Y.; Sugiyama, A.; Shibuya, K.; Lemmers, R.J.L.F.; Goossens, R.; Ogawa, M.; Nagao, K.; Obuse, C.; Noguchi, S.; Hayashi, Y.K.; Kuwabara, S.; Balog, J.; Nishino, I. & Maarel, S.M. van der (2020), Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy, Neurology 94(23): E2441-E2447.
- Maggio, I.; Zittersteijn, H.A.; Wang, Q.; Liu, J.; Janssen, J.M.; Ojeda, I.T.; Maarel, S.M. van der; Lankester, A.C.; Hoeben, R.C. & Goncalves, M.A.F.V. (2020), Integrating gene delivery and gene-editing technologies by adenoviral vector transfer of optimized CRISPR-Cas9 components, Gene Therapy 27.
- Wong, C.J.; Wang, L.H.; Friedman, S.D.; Shaw, D.; Campbell, A.E.; Budech, C.B.; Lewis, L.M.; Lemmers, R.J.F.L.; Statland, J.M.; Maarel, S.M. van der; Tawil, R.N. & Tapscott, S.J. (2020), Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies, Human Molecular Genetics 29(6): 1030-1043.
- Hamel, J.; Lee, P.; Glenn, M.D.; Burka, T.; Choi, I.Y.; Friedman, S.D.; Shaw, D.W.W.; McCalley, A.; Herbelin, L.; Dimachkie, M.M.; Lemmers, R.; Maarel, S.M. van der; Barohn, R.J.; Tawil, R. & Statland, J.M. (2020), Magnetic resonance imaging correlates with electrical impedance myography in facioscapulohumeral muscular dystrophy, Muscle & Nerve 61(5): 644-649.
- Kyba, M.; Bloch, R.J.; Dumonceaux, J.; Harper, S.Q.; Maarel, S.M. van der; Sverdrup, F.M.; Wagner, K.R.; Engelen, B. van & Chen, Y.W. (2020), Meeting report: the 2020 FSHD international research congress, Skeletal Muscle 10(1).
- Kramer, R.C.L.N.; Verlinden, E.J.; Angeloni, L.; Heuvel, A. van den; Fratila-Apachitei, L.E.; Maarel, S.M. van der & Ghatkesar, M.K. (2020), Multiscale 3D-printing of microfluidic AFM cantilevers, Lab on a Chip 20(2): 311-319.
- Lassche, S.; Voermans, N.C.; Pijl, R. van der; Berg, M. van den; Heerschap, A.; Hees, H. van; Kusters, B.; Maarel, S.M. van der; Ottenheijm, C.A.C. & Engelen, B.G.M. van (2020), Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy, Neurology 94(11): E1157-E1170.
- Bouwman, L.F.; Maarel, S.M. van der & Greef, J.C. de (2020), The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy, Current Opinion in Neurology 33(5): 635-640.
- Bouwman, L.F.; Hamer, B. den; Verveer, E.P.; Lerink, L.J.S.; Krom, Y.D.; Maarel, S.M. van der & Greef, J.C. de (2020), Dnmt3bregulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice, Skeletal Muscle 10(1).
- Greco, A.; Goossens, R.; Engelen, B. van & Maarel, S.M. van der (2020), Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy, Clinical Genetics 97(6): 799-814.
- Helfricht, A.; Thijssen, P.E.; Rother, M.B.; Shah, R.G.; , L.K. du; Takada, S.; Rogier, M.; Moritz, J.; IJspeert, H.; Stoepker, C.; Ostaijen-ten Dam, M.M. van; Heyer, V.; Luijsterburg, M.S.; Groot, A. de; Jak, R.; Grootaers, G.; Wang, J.; Rao, P.; Vertegaal, A.C.O.; Tol, M.J.D. van; Pan-Hammarstrom, Q.; Reina-San-Martin, B.; Shah, G.M.; Burg, M. van der; Maarel, S.M. van der & Attikum, H. van (2020), Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome, Journal of Experimental Medicine 217(11).
- Shadle, S.C.; Bennett, S.R.; Wong, C.J.; Karreman, N.A.; Campbell, A.E.; Maarel, S.M. van der; Bass, B.L. & Tapscott, S.J. (2019), DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double-stranded RNA foci in human cell models of FSHD, Human Molecular Genetics 28(23): 3997-4011.
- Huijbers, M.G.; Plomp, J.J.; Es, I.E. van; Fillie-Grijpma, Y.E.; Kamar-Al Majidi, S.; Ulrichts, P.; Haard, H. de; Hofman, E.; Maarel, S.M. van der & Verschuuren, J.J. (2019), Efgartigimod improves muscle weakness in a mouse model for muscle-specific kinase myasthenia gravis, Experimental Neurology 317: 133-143.
- Lemmers RJLF, van der Stoep N, van der Vliet PJ, Moore SA, Topf A, Johnson K, Granado DSL, Evangelista T, Straub V, Scotton C, Ferlini A, Voermans N, van Engelen B, Sacconi S, Tawil R, Lamers M & van der Maarel SM (2019), SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localization of variants in the ATPase domain, European Journal of Human Genetics 27: 1524-1525.
- Heuvel, A. van den; Mahfouz, A.; Kloet, S.L.; Balog, J.; Engelen, B.G.M. van; Tawil, R.; Tapscott, S.J. & Maarel, S.M. van der (2019), Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development, Human Molecular Genetics 28(7): 1064-1075.
- Voermans, N.C.; Bilt, R.C. van der; IJspeert, J.; Hogrel, J.Y.; Jeanpierre, M.; Behin, A.; Laforet, P.; Stojkovic, T.; Engelen, B.G. van; Padberg, G.W.; Sacconi, S.; Lemmers, R.J.L.F.; Maarel, S.M. van der; Eymard, B. & Bassez, G. (2019), Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations, Journal of Neurology 266(12): 2987-2996.
- Goossens, R.; Boogaard, M.L. van den; Lemmers, R.J.L.F.; Balog, J.; Vliet, P.J. van der; Willemsen, I.M.; Schouten, J.; Maggio, I.; Stoep, N. van der; Hoeben, R.C.; Tapscott, S.J.; Geijsen, N.; Goncalves, M.A.F.V.; Sacconi, S.; Tawil, R. & Maarel, S.M. van der (2019), Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing, Journal of Medical Genetics 56(12): 828-837.
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- Wal, E. van der; Hamer, B. den; Vliet, P.J. van der; Tok, M.; Brands, T.; Eussen, B.; Lemmers, R.J.L.F.; Freund, C.; Klein, A. de; Buijsen, R.A.M.; Roon-Mom, W.M.C. van; Tawil, R.; Maarel, S.M. van der & Greef, J.C. de (2019), Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients, Stem Cell Research 40.
- Sacconi, S.; Briand-Suleau, A.; Gros, M.; Baudoin, C.; Lemmers, R.J.L.F.; Rondeau, S.; Lagha, N.; Nigumann, P.; Cambieri, C.; Puma, A.; Chapon, F.; Stojkovic, T.; Vial, C.; Bouhour, F.; Cao, M.; Pegoraro, E.; Petiot, P.; Behin, A.; Marc, B.; Eymard, B.; Echaniz-Laguna, A.; Laforet, P.; Salviati, L.; Jeanpierre, M.; Cristofari, G. & Maarel, S.M. van der (2019), FSHD1 and FSHD2 form a disease continuum, Neurology 92(19): E2273-E2285.
- Greef, J.C. de; Krom, Y.D.; Hamer, B. den; Snider, L.; Hiramuki, Y.; Akker, R.F.P. van den; Breslin, K.; Pakusch, M.; Salvatori, D.C.F.; Slutter, B.; Tawil, R.; Blewitt, M.E.; Tapscott, S.J. & Maarel, S.M. van der (2018), Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model, Human Molecular Genetics 27(4): 716-731.
- Wohlgemuth, M.; Lemmers, R.J.; Jonker, M.; Kooi, E. van der; Horlings, C.G.; Engelen, B.G. van; Maarel, S.M. van der; Padberg, G.W. & Voermans, N.C. (2018), A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1, Neurology 91(5): E444-E454.
- Mul, K.; Lemmers, R.J.L.F.; Kriek, M.; Vliet, P.J. van der; Boogaard, M.L. van den; Badrising, U.A.; Graham, J.M.; Lin, A.E.; Brand, H.; Moore, S.A.; Johnson, K.; Evangelista, T.; Topf, A.; Straub, V.; Garcia, S.K.; Sacconi, S.; Tawil, R.; Tapscott, S.J.; Voermans, N.C.; Engelen, B.G.M. van; Horlings, C.G.C.; Shaw, N.D. & Maarel, S.M. van der (2018), FSHD type 2 and Bosma arhinia microphthalmia syndrome Two faces of the same mutation, Neurology 91(6): E562-E570.
- Goselink, R.J.M.; Schreuder, T.H.A.; Alfen, N. van; Groot, I.J.M. de; Jansen, M.; Lemmers, R.J.L.F.; Vliet, P.J. van der; Stoep, N. van der; Theelen, T.; Voermans, N.C.; Maarel, S.M. van der; Engelen, B.G.M. van & Erasmus, C.E. (2018), Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study, Annals of Neurology 84(5): 627-637.
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- Lemmers, R.J.L.F.; Vliet, P.J. van der; Vreijling, J.P.; Henderson, D.; Stoep, N. van der; Voermans, N.; Engelen, B. van; Baas, F.; Sacconi, S.; Tawil, R. & Maarel, S.M. van der (2018), Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2, Human Molecular Genetics 27(20): 3488-3497.
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- Lemmers, R.J.L.F.; Vliet, P.J. van der; Balog, J.; Goeman, J.J.; Arindrarto, W.; Krom, Y.D.; Straasheijm, K.R.; Debipersad, R.D.; Ozel, G.; Sowden, J.; Snider, L.; Mul, K.; Sacconi, S.; Engelen, B. van; Tapscott, S.J.; Tawil, R. & Maarel, S.M. van der (2018), Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2, European Journal of Human Genetics 26(1): 94-106.
- Campbell, A.E.; Shadle, S.C.; Jagannathan, S.; Lim, J.W.; Resnick, R.; Tawil, R.; Maarel, S.M. van der & Tapscott, S.J. (2018), NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins, eLife 7.
- Huijbers, M.G.; Plomp, J.J.; Maarel, S.M. van der & Verschuuren, J.J. (2018), IgG4-mediated autoimmune diseases: a niche of antibody-mediated disorders, Annals of the New York Academy of Sciences 1413(1): 92-103.
- Verschuuren, J.J.G.M.; Plomp, J.J.; Burden, S.J.; Zhang, W.; Fillie-Grijpma, Y.E.; Stienstra-van Es, I.E.; Niks, E.H.; Losen, M.; Maarel, S.M. van der & Huijbers, M.G. (2018), Passive transfer models of myasthenia gravis with muscle-specific kinase antibodies, Annals of the New York Academy of Sciences 1413(1): 111-118.
- Brinks, J.; Dijk, E.H.C. van; Habeeb, M.; Nikolaou, A.; Tsonaka, R.; Peters, H.A.B.; Sips, H.C.M.; Merbel, A.F. van de; Jong, E.K. de; Notenboom, R.G.E.; Kielbasa, S.M.; Maarel, S.M. van der; Quax, P.H.A.; Meijer, O.C. & Boon, C.J.F. (2018), The effect of corticosteroids on human choroidal endothelial cells: a model to study central serous chorioretinopathy, Investigative Ophthalmology & Visual Science 59(13): 5682-5692.
- Mul, K.; Voermans, N.C.; Lemmers, R.J.L.F.; Jonker, M.A.; Vliet, P.J. van der; Padberg, G.W.; Engelen, B.G.M. van; Maarel, S.M. van der & Horlings, C.G.C. (2018), Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1, Clinical Genetics 94(6): 521-527.
- Moursel, L.G.; Roon-Mom, W.M.C. van; Kielbasa, S.M.; Mei, H.; Buermans, H.P.J.; Graaf, L.M. van der; Hettne, K.M.; Meijer, E.J. de; Duinen, S.G. van; Laros, J.F.J.; Buchem, M.A. van; Hoen, P.A.C.T.; Maarel, S.M. van der & Weerd, L. van der (2018), Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type, Frontiers in Aging Neuroscience 10.
- Goselink, R.J.M.; Kernebeek, C.R. van; Mul, K.; Lemmers, R.J.L.F.; Maarel, S.M. van der; Brouwer, O.F.; Voermans, N.; Padberg, G.W.; Erasmus, C.E. & Engelen, B.G.M. van (2018), A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy, European Journal of Paediatric Neurology 22(5): 782-785.
- Mul, K.; Kinoshita, J.; Dawkins, H.; Engelen, B. van; Tupler, R. & FSHD Consortium (2017), 225th ENMC international workshop: A global FSHD registry framework, 18-20 November 2016, Heemskerk, The Netherlands, Neuromuscular Disorders 27(8): 782-790.
- Mason, A.G.; Slieker, R.C.; Balog, J.; Lemmers, R.J.L.F.; Wong, C.J.; Yao, Z.Z.; Lim, J.W.; Filippova, G.N.; Ne, E.; Tawil, R.; Heijmans, B.T.; Tapscott, S.J. & Maarel, S.M. van der (2017), SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes, Skeletal Muscle 7.
- Wohlgemuth, M.; Horlings, C.G.C.; Kooi, E.L. van der; Gilhuis, H.J.; Hendriks, J.C.M.; Maarel, S.M. van der; Engelen, B.G.M. van; Heijdra, Y.F. & Padberg, G.W. (2017), Respiratory function in facioscapulohumeral muscular dystrophy, Neuromuscular Disorders 27(6): 526-530.
- Koneczny, I.; Stevens, J.A.A.; Rosa, A. de; Huda, S.; Huijbers, M.G.; Saxena, A.; Maestri, M.; Lazaridis, K.; Zisimopoulou, P.; Tzartos, S.; Verschuuren, J.; Maarel, S.M. van der; Damme, P. van; Baets, M.H. de; Molenaar, P.C.; Vincent, A.; Ricciardi, R.; Martinez-Martinez, P. & Losen, M. (2017), IgG4 autoantibodies against muscle-specific kinase undergo Fab-arm exchange in myasthenia gravis patients, Journal of Autoimmunity 77: 104-115.
- Boogaard, M.L. van den; Thijssen, P.E.; Aytekin, C.; Licciardi, F.; Kiykim, A.A.; Spossito, L.; Dalm, V.A.S.H.; Driessen, G.J.; Kersseboom, R.; Vries, F. de; Ostaijen-ten Dam, M.M. van; Ikinciogullari, A.; Dogu, F.; Oleastro, M.; Bailardo, E.; Daxinger, L.; Nain, E.; Baris, S.; Tol, M.J.D. van; Weemaes, C. & Maarel, S.M. van der (2017), Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2, Clinical Genetics 92(4): 380-387.
- Shadle, S.C.; Zhong, J.W.; Campbell, A.E.; Conerly, M.L.; Jagannathan, S.; Wong, C.J.; Morello, T.D.; Maarel, S.M. van der & Tapscott, S.J. (2017), DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy, PLoS Genetics 13(3).
- Campbell, A.E.; Oliva, J.; Yates, M.P.; Zhong, J.W.; Shadle, S.C.; Snider, L.; Singh, N.; Tai, S.; Hiramuki, Y.; Tawil, R.; Maarel, S.M. van der; Tapscott, S.J. & Sverdrup, F.M. (2017), BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells, Skeletal Muscle 7.
- Mul, K.; Vincenten, S.C.C.; Voermans, N.C.; Lemmers, R.J.L.F.; Vliet, P.J. van der; Maarel, S.M. van der; Padberg, G.W.; Horlings, C.G.C. & Engelen, B.G.M. van (2017), Adding quantitative muscle MRI to the FSHD clinical trial toolbox, Neurology 89(20): 2057-2065.
- Wu, H.Y.; Thijssen, P.E.; Klerk, E. de; Vonk, K.K.D.; Wang, J.; Hamer, B. den; Aytekin, C.; Maarel, S.M. van der & Daxinger, L. (2016), Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals, Human Molecular Genetics 25(18): 4041-4051.
- Jagannathan, S.; Shadle, S.C.; Resnick, R.; Snider, L.; Tawil, R.N.; Maarel, S.M. van der; Bradley, R.K. & Tapscott, S.J. (2016), Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells, Human Molecular Genetics 25(20): 4419-4431.
- Boogaard, M.L. van den; Lemmers, R.J.L.F.; Balog, J.; Wohlgemuth, M.; Auranen, M.; Mitsuhashi, S.; Vliet, P.J. van der; Straasheijm, K.R.; Akker, R.F.P. van den; Kriek, M.; Laurense-Bik, M.E.Y.; Raz, V.; Ostaijen-ten Dam, M.M. van; Hansson, K.B.M.; Kooi, E.L. van der; Kiuru-Enari, S.; Udd, B.; Tol, M.J.D. van; Nishino, I.; Tawil, R.; Tapscott, S.J.; Engelen, B.G.M. van & Maarel, S.M. van der (2016), Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy, American Journal of Human Genetics 98(5): 1020-1029.
- Huijbers, M.G.; Vink, A.F.D.; Niks, E.H.; Westhuis, R.H.; Zwet, E.W. van; Meel, R.H. de; Rojas-Garcia, R.; Diaz-Manera, J.; Kuks, J.B.; Klooster, R.; Straasheijm, K.; Evoli, A.; Illa, I.; Maarel, S.M. van der & Verschuuren, J.J. (2016), Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity, Journal of Neuroimmunology 291: 82-88.
- Mul, K.; Boogaard, M.L. van den; Maarel, S.M. van der & Engelen, B.G.M. van (2016), Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy, Current Opinion in Neurology 29(5): 606-613.
- Goselink, R.J.M.; Schreuder, T.H.A.; Mul, K.; Voermans, N.C.; Pelsma, M.; Groot, I.J.M. de; Alfen, N. van; Franck, B.; Theelen, T.; Lemmers, R.J.; Mah, J.K.; Maarel, S.M. van der; Engelen, B.G. van & Erasmus, C.E. (2016), Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD), BMC Neurology 16.
- Knopp, P.; Krom, Y.D.; Banerji, C.R.S.; Panamarova, M.; Moyle, L.A.; Hamer, B. den; Maarel, S.M. van der & Zammit, P.S. (2016), DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis, Journal of Cell Science 129(20): 3816-3831.
- Tawil, R.; Padberg, G.W.; Shaw, D.W.; Maarel, S.M. van der; Tapscott, S.J. & FSHD Workshop Participants (2016), Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York, Neuromuscular Disorders 26(2): 181-186.
- Calandra, P.; Cascino, I.; Lemmers, R.J.L.F.; Galluzzi, G.; Teveroni, E.; Monforte, M.; Tasca, G.; Ricci, E.; Moretti, F.; Maarel, S.M. van der & Deidda, G. (2016), Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2, Journal of Medical Genetics 53(5): 348-355.
- Huijbers, M.G.; Niks, E.H.; Klooster, R.; Visser, M. de; Kuks, J.B.; Veldink, J.H.; Klarenbeek, P.; Damme, P. van; Baets, M.H. de; Maarel, S.M. van der; Berg, L.H. van den & Verschuuren, J.J. (2016), Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis, Neuromuscular Disorders 26(6): 350-353.
- Boogaard, M.L. van den; Lemmers, R.J.F.L.; Camano, P.; Vliet, P.J. van der; Voermans, N.; Engelen, B.G.M. van; Munain, A.L. de; Tapscott, S.J.; Stoep, N. van der; Tawil, R. & Maarel, S.M. van der (2016), Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2, European Journal of Human Genetics 24(1): 78-85.
- Schut, M.H.; Pepers, B.A.; Klooster, R.; Maarel, S.M. van der; Khatabi, M. el; Verrips, T.; Dunnen, J.T. den; Ommen, G.J.B. van & Roon-Mom, W.M.C. van (2015), Selection and characterization of llama single domain antibodies against N-terminal huntingtin, Neurological Sciences 36(3): 429-434.
- Riaz, M.; Raz, Y.; Moloney, E.B.; Putten, M. van; Krom, Y.D.; Maarel, S.M. van der; Verhaagen, J. & Raz, V. (2015), Differential myofiber-type transduction preference of adeno-associated virus serotypes 6 and 9, Skeletal Muscle 5.
- Feng, Q.; Snider, L.; Jagannathan, S.; Tawil, R.; Maarel, S.M. van der; Tapscott, S.J. & Bradley, R.K. (2015), A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy, eLife 4.
- Dorresteijn, B.; Rotman, M.; Faber, D.; Schravesande, R.; Suidgeest, E.; Weerd, L. van der; Maarel, S.M. van der; Verrips, C.T. & Khattabi, M. el (2015), Camelid heavy chain only antibody fragment domain against beta-site of amyloid precursor protein cleaving enzyme 1 inhibits beta-secretase activity in vitro and in vivo, FEBS Journal 282(18): 3618-3631.
- Lim, J.W.; Snider, L.; Yao, Z.Z.; Tawil, R.; Maarel, S.M. van der; Rigo, F.; Bennett, C.F.; Filippova, G.N. & Tapscott, S.J. (2015), DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD, Human Molecular Genetics 24(17): 4817-4828.
- Dorobek, M.; Maarel, S.M. van der; Lemmers, R.J.L.F.; Ryniewicz, B.; Kabzinska, D.; Frants, R.R.; Gawel, M.; Walecki, J. & Hausmanowa-Petrusewicz, I. (2015), Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features.
- Rotman, M.; Welling, M.M.; Bunschoten, A.; Backer, M.E. de; Rip, J.; Nabuurs, R.J.A.; Gaillard, P.J.; Buchem, M.A. van; Maarel, S.M. van der & Weerd, L. van der (2015), Enhanced glutathione PEGylated liposomal brain delivery of an anti-amyloid single domain antibody fragment in a mouse model for Alzheimer's disease, Journal of Controlled Release 203: 40-50.
- Rotman, M.; Welling, M.M.; Boogaard, M.L. van den; Moursel, L.G.; Graaf, L.M. van der; Buchem, M.A. van; Maarel, S.M. van der & Weerd, L. van der (2015), Fusion of hIgG1-Fc to In-111-anti-amyloid single domain antibody fragment VHH-pa2H prolongs blood residential time in APP/PS1 mice but does not increase brain uptake, Nuclear Medicine and Biology 42(8): 695-702.
- Chen, K.L.; Hu, J.; Moore, D.L.; Liu, R.J.; Kessans, S.A.; Breslin, K.; Lucet, I.S.; Keniry, A.; Leong, H.S.; Parish, C.L.; Hilton, D.J.; Lemmers, R.J.L.F.; Maarel, S.M. van der; Czabotar, P.E.; Dobson, R.C.J.; Ritchie, M.E.; Kay, G.F.; Murphy, J.M. & Blewitt, M.E. (2015), Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation, Proceedings of the National Academy of Sciences 112(27): E3535-E3544.
- Lemmers, R.J.L.F.; Boogaard, M.L. van den; Vliet, P.J. van der; Donlin-Smith, C.M.; Nations, S.P.; Ruivenkamp, C.A.L.; Heard, P.; Bakker, B.; Tapscott, S.; Cody, J.D.; Tawil, R. & Maarel, S.M. van der (2015), Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome, Human Mutation 36(7): 679-683.
- Lemmers, R.J.L.F.; Goeman, J.J.; Vliet, P.J. van der; Nieuwenhuizen, M.P. van; Balog, J.; Vos-Versteeg, M.; Camano, P.; Arroyo, M.A.R.; Jerico, I.; Rogers, M.T.; Miller, D.G.; Upadhyaya, M.; Verschuuren, J.J.G.M.; Arregui, A.L.D.; Engelen, B.G.M. van; Padberg, G.W.; Sacconi, S.; Tawil, R.; Tapscott, S.J.; Bakker, B. & Maarel, S.M. van der (2015), Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2, Human Molecular Genetics 24(3): 659-669.
- Statland, J.M.; Donlin-Smith, C.M.; Tapscott, S.J.; Lemmers, R.J.L.F.; Maarel, S.M. van der & Tawil, R. (2015), Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats, Neurology 85(24): 2147-2150.
- Daxinger, L.; Tapscott, S.J. & Maarel, S.M. van der (2015), Genetic and epigenetic contributors to FSHD, Current Opinion in Genetics and Development 33: 56-61.
- Statland, J.M.; Shah, B.; Henderson, D.; Maarel, S. van der; Tapscott, S.J. & Tawil, R. (2015), MUSCLE PATHOLOGY GRADE FOR FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY BIOPSIES, Muscle and Nerve 52(4): 521-526.
- Thijssen, P.E.; Ito, Y.; Grillo, G.; Wang, J.; Velasco, G.; Nitta, H.; Unoki, M.; Yoshihara, M.; Suyama, M.; Sun, Y.; Lemmers, R.J.L.F.; Greef, J.C. de; Gennery, A.; Picco, P.; Kloeckener-Gruissem, B.; Gungor, T.; Reisli, I.; Picard, C.; Kebaili, K.; Roquelaure, B.; Iwai, T.; Kondo, I.; Kubota, T.; Ostaijen-Ten Dam, M.M. van; Tol, M.J.D. van; Weemaes, C.; Francastel, C.; Maarel, S.M. van der & Sasaki, H. (2015), Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome, Nature Communications 6.
- Huijbers, M.G.; Querol, L.A.; Niks, E.H.; Plomp, J.J.; Maarel, S.M. van der; Graus, F.; Dalmau, J.; Illa, I. & Verschuuren, J.J. (2015), The expanding field of IgG4-mediated neurological autoimmune disorders, European Journal of Neurology 22(8): 1151-1161.
- Raz, V.; Buijze, H.; Raz, Y.; Verwey, N.; Anvar, S.Y.; Aartsma-Rus, A. & Maarel, S.M. van der (2014), A Novel Feed-Forward Loop between ARIH2 E3-Ligase and PABPN1 Regulates Aging-Associated Muscle Degeneration, American Journal of Pathology 184(4): 1119-1131.
- Tawil, R.; Shaw, D.W.; Maarel, S.M. van der & Tapscott, S.J. (2014), Clinical trial preparedness in facioscapulohumeral dystrophy: Outcome measures and patient access 8-9 April 2013, Leiden, The Netherlands, Neuromuscular Disorders 24(1): 79-85.
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- Morree, A. de; Hensbergen, P.J.; Haagen, H.H.H.B.M. van; Dragan, I.; Deelder, A.M.; Hoen, P.A.C.'. 't; Frants, R.R. & Maarel, S.M. van der (2010), Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity., PLoS ONE 5(11): e13854.
- Aartsma-Rus, A.; Singh, K.H.K.; Fokkema, I.F.A.C.; Ginjaar, I.B.; Ommen, G.J. van; Dunnen, J.T. den & Maarel, S.M. van der (2010), Therapeutic exon skipping for dysferlinopathies?, European Journal of Human Genetics 18(8): 889-894.
- Titulaer, M.J.; Maddison, P.; Sont, J.K.; Wirtz, P.W.; Hilton-Jones, D.; Klooster, R.; Potman, M.; Willcox, N.; Smitt, P.A.S.; Vincent, A.; Maarel, S.M. van der; Lang, B. & Verschuuren, J.J. (2010), Prediction model for small-cell lung cancer in the Lambert-Eaton myasthenic syndrome, Journal of Neurology 257: S49S50.
- van Haagen HH, 't Hoen PA, Botelho Bovo A, de Morrée A, van Mulligen EM, Chichester C, Kors JA, den Dunnen JT, van Ommen GJ, van der Maarel SM, Kern VM, Mons B & Schuemie MJ (2009), Novel protein-protein interactions inferred from literature context., PLoS ONE 4(11): e7894.
- de Greef JC, Lemmers RJL, van Engelen BGM, Sacconi S, Venance SL, Frants RR, Tawil R & van der Maarel SM (2009), Contraction-dependent (FSHD1) and independent (FSHD2) epigenetic changes of D4Z4 unify FSHD, Neuromuscular Disorders 19(8-9): 545-545.
- van Haagen HHHBM, 't Hoen PAC, Bovo AB, de Morree A, van Mulligen EM, Chichester C, Kors JA, den Dunnen JT, van Ommen GJB, van der Maarel SM, Kern VM, Mons B & Schuemie MJ (2009), Novel Protein-Protein Interactions Inferred from Literature Context, PLoS ONE 4(11).
- de Greef JC, Lemmers RJLF, van Engelen BGM, Sacconi S, Venance SL, Frants RR, Tawil R & van der Maarel SM (2009), Common Epigenetic Changes of D4Z4 in Contraction-Dependent and Contraction-Independent FSHD, Human Mutation 30(10): 1449-1459.
- Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJLF, Winokur ST & Tawil R (2009), RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy, Human Molecular Genetics 18(13): 2414-2430.
- Chartier A, Raz V, Sterrenburg E, Verrips CT, van der Maarel SM & Simonelig M (2009), Prevention of oculopharyngeal muscular dystrophy by muscular expression of Llama single-chain intrabodies in vivo, Human Molecular Genetics 18(10): 1849-1859.
- de Morree A, Hulsik DL, Impagliazzo A, van Haagen HHB, de Galan P, van Remoortere A, 't Hoen PAC, Frants RR & van der Maarel SM (2009), A primary sequence motif underlying calpain 3 substrate cleavage, Neuromuscular Disorders 19(8-9): 545-545.
- Zeng WH, de Greef JC, Chen YY, Chien R, Kong XD, Gregson HC, Winokur ST, Pyle A, Robertson KD & Schmiesing JA (2009), Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1 gamma/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD), PLoS Genetics 5(7).
- Van der Maarel SM (2009), THE GENETIC AND EPIGENETIC CHARACTERISTICS OF FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, Analytical Cellular Pathology / Cellular Oncology 31(2): 94-94.
- Trollet C, Bales O, Anvar Y, Foster K, Mamchaoui K, 't Hoen PA, Raz V, van der Maarel S, Antoniou M & Mouly V (2009), Oculopharyngeal muscular dystrophy (OPMD): Physiopathological mechanisms and gene therapy approaches, Neuromuscular Disorders 19(8-9): 579-579.
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