FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Silvère van der Maarel

Research Profile

Disorders

Anatomy

Chemicals & Drugs

Concepts & Ideas

Living Beings

Mouse

Physiology

Genes & Molecular Sequences

Alleles

Procedures

Pulsed Field Gel Electrophoresis

Co-author Network

Publications

TOP 3
Yvonne D Krom; Lisa Maves; George W Padberg; Tonnie Rijkers; Lauren Snider; Stephen J Tapscott; Rabi Tawil; Peter E Thijssen; Judit Balog; Bianca den Hamer; Rune R Frants; Paul Knopp; Baziel G M van Engelen; Zizhen Yao; Janet M Young; Peter S Zammit; Silvère M van der Maarel
Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD.
Saskia Lassche; Henk Granzier; Tom C Irving; George W Padberg; Ger J M Stienen; Silvère M van der Maarel; Baziel G M van Engelen; Nicol C Voermans; Coen A C Ottenheijm
Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy.
Lynn M Hartweck; Lindsey J Anderson; Joline C Dalton; Abhijit Dandapat; John W Day; Richard J Lemmers; Rabi Tawil; Erik A Toso; Silvère M van der Maarel; Michael Kyba
A focal domain of extreme demethylation within D4Z4 in FSHD2.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Silvère van der Maarel (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Yvonne D Krom; Lisa Maves; George W Padberg; Tonnie Rijkers; Lauren Snider; Stephen J Tapscott; Rabi Tawil; Peter E Thijssen; Judit Balog; Bianca den Hamer; Rune R Frants; Paul Knopp; Baziel G M van Engelen; Zizhen Yao; Janet M Young; Peter S Zammit; Silvère M van der Maarel
Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD.
PLoS genetics 2013;9(4):e1003415.
2013: Saskia Lassche; Henk Granzier; Tom C Irving; George W Padberg; Ger J M Stienen; Silvère M van der Maarel; Baziel G M van Engelen; Nicol C Voermans; Coen A C Ottenheijm
Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy.
Neurology 2013;80(8):733-7.
2013: Lynn M Hartweck; Lindsey J Anderson; Joline C Dalton; Abhijit Dandapat; John W Day; Richard J Lemmers; Rabi Tawil; Erik A Toso; Silvère M van der Maarel; Michael Kyba
A focal domain of extreme demethylation within D4Z4 in FSHD2.
Neurology 2013;80(4):392-9.
2013: Mirjam M Schaap; Patrick J van der Vliet; Herman K van Dijk; Nalan Baştürk; Peter de Knijff; Lennart F Hoogerheide; Richard J L F Lemmers; Roel Maassen; Silvère M van der Maarel
Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions.
BMC genomics 2013;14():143.
2012: Jaap J Plomp; Silvère M van der Maarel; Maartje G Huijbers; Jan J Verschuuren
Pathogenic IgG4 subclass autoantibodies in MuSK myasthenia gravis.
Annals of the New York Academy of Sciences 2012;1275():114-22.
2012: Richard J L F Lemmers; Daniel G Miller; George W Padberg; Lisa M Petek; Sabrina Sacconi; Gijs W E Santen; Kirsten R Straasheijm; Yu Sun; Stephen J Tapscott; Rabi Tawil; Patrick J van der Vliet; Baziel G M van Engelen; Annemieke M Aartsma-Rus; Rowida Almomani; Amanda M Amell; Bert Bakker; Judit Balog; Michael J Bamshad; Gregory J Block; JC de Greef; Marianne De Visser; Johan T den Dunnen; Claude Desnuelle; Colleen M Donlin-Smith; Galina N Filippova; Rune R Frants; Quinta Helmer; Rinse Klooster; Yvonne D Krom; Silvère M van der Maarel
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Nature genetics 2012;44(12):1370-4.
2012: Silvère M van der Maarel; Rabi Tawil; Galina N Filippova; Daniel G Miller; Stephen J Tapscott
Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.
Current opinion in neurology 2012;25(5):614-20.
2012: Yvonne D Krom; Kamel Mamchaoui; Virginie Mariot; Nicolas Martin; Vincent Mouly; E Negroni; Stephen J Tapscott; Rabi Tawil; Gillian Butler-Browne; Bianca den Hamer; Julie Dumonceaux; Linda N Geng; Baziel G M van Engelen; Silvère M van der Maarel
Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD.
The American journal of pathology 2012;181(4):1387-401.
2012: Eleonora de Klerk; Johan T den Dunnen; George Dickson; Jelle J Goeman; Ouhua Hu; Vered Raz; capucine Trollet; Silvère M van der Maarel; Andrea Venema; S Yahya Anvar; Peter A C 't Hoen
Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation.
Nucleic acids research 2012;40(18):9089-101.
2012: Manuela Cerbone; Antonio D'Agostino; Alessandra D'Amico; Alfonso Romano; Silvère M van der Maarel; Jun Wang; Nicola Brunetti-Pierri
Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst.
American journal of medical genetics. Part A 2012;158A(8):2043-6.
2012: Judit Balog; JC de Greef; Bharati Shah; Stephen J Tapscott; Rabi Tawil; Peter E Thijssen; Baziel G M van Engelen; Kyoko Yokomori; Silvère M van der Maarel
Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.
Epigenetics : official journal of the DNA Methylation Society 2012;7(6):579-84.
2012: Richard J L F Lemmers; Peter W Lunt; Suzanne O'Shea; George W Padberg; Silvère M van der Maarel
Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: workshop 9th June 2010, LUMC, Leiden, The Netherlands.
Neuromuscular disorders : NMD 2012;22(5):463-70.
2012: Rinse Klooster; Mario Losen; Pilar Martinez-Martinez; Erik H Niks; Jaap J Plomp; Kevin Sleijpen; Kirsten R Straasheijm; Silvère M van der Maarel; Aad Verrips; Marc H De Baets; Frank J Detmers; Pim W Hermans; Maartje G Huijbers; Jan J Verschuuren
Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice.
Brain : a journal of neurology 2012;135(Pt 4):1081-101.
2012: J Annelies E Polman; Silvère M van der Maarel; Jennifer E Welten; Judit Balog; Danny S Bosch; Robert T de Jonge; E Ronald de Kloet; Nicole A Datson
A genome-wide signature of glucocorticoid receptor binding in neuronal PC12 cells.
BMC neuroscience 2012;13():118.
2012: Rinse Klooster; Kim S Rutgers; Silvère M van der Maarel
Selection of VHH antibody fragments that recognize different Aβ depositions using complex immune libraries.
Methods in molecular biology (Clifton, N.J.) 2012;911():241-53.
2012: Rob J A Nabuurs; Maarten Rotman; Kim S Rutgers; Mark A Van Buchem; Silvère M van der Maarel; Brian J Bacskai; Maaike E de Backer; Athanasios Metaxas; Mick Welling; Louise van der Weerd
In vivo detection of amyloid-β deposits using heavy chain antibody fragments in a transgenic mouse model for Alzheimer's disease.
PloS one 2012;7(6):e38284.
2011: Seyed Yahya Anvar; Vered Raz; Allan Tucker; Silvère M van der Maarel; Gert-Jan B van Ommen; Andrea Venema; Veronica Vinciotti; Peter A C 't Hoen
Interspecies translation of disease networks increases robustness and predictive accuracy.
PLoS computational biology 2011;7(11):e1002258.
2011: Vered Raz; Samantha Routledge; Kirsten R Straasheijm; Michael Antoniou; Seyedyahya Anvar; Hellen Buijze; Rinse Klooster; Erik van der Wal; Andrea Venema; Silvère M van der Maarel
Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein.
The American journal of pathology 2011;179(4):1988-2000.
2011: Kim S Rutgers; Mark A Van Buchem; Sjoerd G van Duinen; Alexandra Van Remoortere; C Theo Verrips; Brian J Bacskai; Matthew P Frosch; Steven M Greenberg; Marion L C Maat-Schieman; Silvère M van der Maarel
Differential recognition of vascular and parenchymal beta amyloid deposition.
Neurobiology of aging 2011;32(10):1774-83.
2011: K S Rutgers; G J Schenk; Mark A Van Buchem; Sjoerd van den Berg; A G de Boer; Marion L C Maat-Schieman; R J A Nabuurs; M Rotman; Sjoerd G van Duinen; C Theo Verrips; Silvère M van der Maarel
Transmigration of beta amyloid specific heavy chain antibody fragments across the in vitro blood-brain barrier.
Neuroscience 2011;190():37-42.
2011: Chia-Yun Jessica Sun; Silvère M van der Maarel; Silvana van Koningsbruggen; Michel Bellini; William M Brieher; Takako I Jones; Rinse Klooster; Lyne Levesque; Steven W Long; Kirsten Straasheijm; Peter L Jones
Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein.
Journal of molecular biology 2011;411(2):397-416.
2011: Jessica C de Greef; Johan T den Dunnen; Laurence Duprez; Alina Ferster; Rune R Frants; Andrew R Gennery; Giorgio Gimelli; Arjan C Lankester; Ismail Reisli; Catharina Schuetz; Ansgar Schulz; Dominique F C M Smeets; Kirsten R Straasheijm; Yves Sznajer; Peter J van den Elsen; Mirjam van der Burg; Marja C J A van Eggermond; Monique M van Ostaijen-Ten Dam; Maarten J D van Tol; Jun Wang; Corry M Weemaes; Cisca Wijmenga; Caner Aytekin; Judit Balog; Silvère M van der Maarel
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
American journal of human genetics 2011;88(6):796-804.
2011: Vered Raz; Hans J Tanke; Tsion Abraham; Roeland W Dirks; Erik W van Zwet; Silvère M van der Maarel
Reversible aggregation of PABPN1 pre-inclusion structures.
Nucleus (Austin, Tex.) 2011;2(3):208-18.
2011: Silvère M van der Maarel; Rabi Tawil; Stephen J Tapscott
Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.
Trends in molecular medicine 2011;17(5):252-8.
2011: Maarten Titulaer; Paul Maddison; Jacob K Sont; Paul W Wirtz; David Hilton-Jones; Rinse Klooster; Nick Willcox; Marko Potman; Peter A E Sillevis Smitt; J B M Kuks; Bart O Roep; Angela Vincent; Silvère M van der Maarel; J Gert van Dijk; Bethan Lang; Jan J Verschuuren
Clinical Dutch-English Lambert-Eaton Myasthenic syndrome (LEMS) tumor association prediction score accurately predicts small-cell lung cancer in the LEMS.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2011;29(7):902-8.
2011: Seyed Yahya Anvar; Aymeric Chartier; George Dickson; Martine Simonelig; Marc Snoeck; Peter Ac 't Hoen; capucine Trollet; Silvère M van der Maarel; Barbara M van der Sluijs; Baziel van Engelen; Gert-Jan B van Ommen; Andrea Venema; John Vissing; Vered Raz
Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients.
Skeletal muscle 2011;1(1):15.
2010: JC de Greef; R J L F Lemmers; P Camaño; J W Day; Sabrina Sacconi; M Dunand; B G M van Engelen; S Kiuru-Enari; George W Padberg; A L Rosa; C Desnuelle; S Spuler; M Tarnopolsky; S L Venance; Rune R Frants; Silvère M van der Maarel; R Tawil
Clinical features of facioscapulohumeral muscular dystrophy 2.
Neurology 2010;75(17):1548-54.
2010: Lauren Snider; Linda N Geng; Richard J L F Lemmers; Michael Kyba; Carol B Ware; Angelique M Nelson; Rabi Tawil; Galina N Filippova; Silvère M van der Maarel; Stephen J Tapscott; Daniel G Miller
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.
PLoS genetics 2010;6(10):e1001181.
2010: Richard J L F Lemmers; Patrick J van der Vliet; Rinse Klooster; Sabrina Sacconi; Pilar Camaño; Johannes G Dauwerse; Lauren Snider; Kirsten R Straasheijm; Gert Jan van Ommen; George W Padberg; Daniel G Miller; Stephen J Tapscott; Rabi Tawil; Rune R Frants; Silvère M van der Maarel
A unifying genetic model for facioscapulohumeral muscular dystrophy.
Science (New York, N.Y.) 2010;329(5999):1650-3.
2010: Aartsma-Rus Annemieke; Kavita H K Singh; Ivo F A C Fokkema; Ieke B Ginjaar; Gert-Jan van Ommen; Johan T den Dunnen; Silvère M van der Maarel
Therapeutic exon skipping for dysferlinopathies?
European journal of human genetics : EJHG 2010;18(8):889-94.
2010: capucine Trollet; Seyed Yahya Anvar; Andrea Venema; Iain P Hargreaves; Keith Foster; Alban Vignaud; Arnaud Ferry; Elisa Negroni; Christophe Hourde; Martín Baraibar; Peter A C 't Hoen; Janet E Davies; David C Rubinsztein; Simon J Heales; Vincent Mouly; Silvère M van der Maarel; Gillian Butler-Browne; Vered Raz; George Dickson
Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres.
Human molecular genetics 2010;19(11):2191-207.
2010: Antonietta Impagliazzo; Armand W Tepper; Theo C Verrips; Marcellus Ubbink; Silvère M van der Maarel
Structural basis for a PABPN1 aggregation-preventing antibody fragment in OPMD.
FEBS letters 2010;584(8):1558-64.
2010: Richard Lemmers; Patrick J van der Vliet; Kristiaan J van der Gaag; Sofia Zuniga; Rune R Frants; Peter de Knijff; Silvère M van der Maarel
Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution.
American journal of human genetics 2010;86(3):364-77.
2010: Antoine de morree; 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
Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity.
PloS one 2010;5(11):e13854.
2010: Antoine de morree; 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
Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.
PloS one 2010;5(8):e11940.
2009: Rinse Klooster; Kirsten Straasheijm; Bharati Shah; Janet Sowden; Rune Frants; Charles Thornton; Rabi Tawil; Silvère M van der Maarel
Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.
European journal of human genetics : EJHG 2009;17(12):1615-24.
2009: JC de Greef; Richard Lemmers; B G M van Engelen; Sabrina Sacconi; Shannon L Venance; Rune R Frants; Rabi Tawil; Silvère M van der Maarel
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
Human mutation 2009;30(10):1449-59.
2009: Maarten Titulaer; Rinse Klooster; Marko Potman; Lidia Sabater; Francesc Graus; Ingrid M Hegeman; Peter E Thijssen; Paul W Wirtz; Albert Twijnstra; Peter A E Sillevis Smitt; Silvère M van der Maarel; Jan J Verschuuren
SOX antibodies in small-cell lung cancer and Lambert-Eaton myasthenic syndrome: frequency and relation with survival.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009;27(26):4260-7.
2009: Weihua Zeng; Jessica C de Greef; Yen-Yun Chen; Richard Chien; Xiangduo Kong; Heather 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
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).
PLoS genetics 2009;5(7):e1000559.
2009: Lauren Snider; Amy Asawachaicharn; Ashlee E Tyler; Linda N Geng; Lisa M Petek; Lisa Maves; Daniel G Miller; Richard Lemmers; Sara T Winokur; Rabi Tawil; Silvère M van der Maarel; Galina N Filippova; Stephen J Tapscott
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.
Human molecular genetics 2009;18(13):2414-30.
2009: Aymeric Chartier; Vered Raz; Ellen Sterrenburg; C Theo Verrips; Silvère M van der Maarel; Martine Simonelig
Prevention of oculopharyngeal muscular dystrophy by muscular expression of Llama single-chain intrabodies in vivo.
Human molecular genetics 2009;18(10):1849-59.
2009: Herman H H B M van Haagen; Peter A C 't Hoen; Alessandro Botelho Bovo; Antoine de morree; Erik van Mulligen; Christine Chichester; Jan A Kors; Johan T den Dunnen; Gert-Jan B van Ommen; Silvère M van der Maarel; Vinícius Medina Kern; Barend Mons; Martijn J Schuemie
Novel protein-protein interactions inferred from literature context.
PloS one 2009;4(11):e7894.
2008: JC de Greef; Rune R Frants; Silvère M van der Maarel
Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.
Mutation research 2008;647(1-2):94-102.
2008: Yanchao Huang; Antoine de morree; Alexandra Van Remoortere; Kate Bushby; Rune R Frants; Johan T den Dunnen; Silvère M van der Maarel
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.
Human molecular genetics 2008;17(12):1855-66.
2008: M M Hagleitner; A Lankester; Paola Maraschio; M Hultén; Jean-Pierre Fryns; C Schuetz; Giorgio Gimelli; E Graham Davies; A Gennery; B H Belohradsky; R de Groot; E J A Gerritsen; Teresa Mattina; P J Howard; A Fasth; I Reisli; D Furthner; Mary A Slatter; A J Cant; G Cazzola; P J van Dijken; Marcel van Deuren; JC de Greef; Silvère M van der Maarel; Corry M R Weemaes
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
Journal of medical genetics 2008;45(2):93-9.
2007: Richard Lemmers; Marielle Wohlgemuth; Kristiaan J van der Gaag; Patrick J van der Vliet; Corrie M M van Teijlingen; Peter de Knijff; George W Padberg; Rune R Frants; Silvère M van der Maarel
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.
American journal of human genetics 2007;81(5):884-94.
2007: JC de Greef; Marielle Wohlgemuth; O A Chan; K B Hansson; Dominique Smeets; Rune R Frants; Corry M R Weemaes; George W Padberg; Silvère M van der Maarel
Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
Neurology 2007;69(10):1018-26.
2007: Yanchao Huang; Steven H Laval; Alexandra Van Remoortere; jacques Baudier; Chriselle Benaud; Louise V B Anderson; Volker Straub; Andre Deelder; Rune R Frants; Johan T den Dunnen; Kate Bushby; Silvère M van der Maarel
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2007;21(3):732-42.
2007: Kristen L Deak; Richard Lemmers; Jeffrey M Stajich; R Klooster; R Tawil; Rune R Frants; Marcy C Speer; Silvère M van der Maarel; John Gilbert
Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.
Neurology 2007;68(8):578-82.
2007: Silvana van Koningsbruggen; Kirsten R Straasheijm; Ellen Sterrenburg; Natascha de Graaf; Hans Dauwerse; Rune R Frants; Silvère M van der Maarel
FRG1P-mediated aggregation of proteins involved in pre-mRNA processing.
Chromosoma 2007;116(1):53-64.
2007: Silvère M van der Maarel; Rune R Frants; George W Padberg
Facioscapulohumeral muscular dystrophy.
Biochimica et biophysica acta 2007;1772(2):186-94.
2006: EL van der Kooi; JC de Greef; Marielle Wohlgemuth; Rune R Frants; R J G P van Asseldonk; H J Blom; B G M van Engelen; Silvère M van der Maarel; George W Padberg
No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMD 2006;16(11):766-9.
2006: Richard Lemmers; Michiel J R van der Wielen; Egbert Bakker; Rune R Frants; Silvère M van der Maarel
Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMD 2006;16(9-10):615-7; author reply 617-8.
2006: Peter Verheesen; Andreas Roussis; Hans de Haard; Arjan J Groot; Jord Stam; Johan T den Dunnen; Rune R Frants; Arie J Verkleij; C Theo Verrips; Silvère M van der Maarel
Reliable and controllable antibody fragment selections from Camelid non-immune libraries for target validation.
Biochimica et biophysica acta 2006;1764(8):1307-19.
2006: Rabi Tawil; Silvère M van der Maarel
Facioscapulohumeral muscular dystrophy.
Muscle & nerve 2006;34(1):1-15.
2006: Maria Manuela O Tonini; Richard Lemmers; Rita C M Pavanello; Antonia M P Cerqueira; Rune R Frants; Silvère M van der Maarel; Mayana Zatz
Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy.
Human genetics 2006;119(1-2):23-8.
2006: Peter Verheesen; Anna de Kluijver; Silvana van Koningsbruggen; Marjolein de Brij; Hans de Haard; Gert-Jan B van Ommen; Silvère M van der Maarel; C Theo Verrips
Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody.
Human molecular genetics 2006;15(1):105-11.
2005: Petra G M van Overveld; Leo Enthoven; Enzo Ricci; Monica Rossi; Luciano Felicetti; Marc Jeanpierre; Sara T Winokur; Rune R Frants; George W Padberg; Silvère M van der Maarel
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.
Annals of neurology 2005;58(4):569-76.
2005: Borian T Buzhov; Richard Lemmers; Ivailo Tournev; Michiel J R van der Wielen; Boryana Ishpekova; Radoslav Petkov; Julia Petrova; Rune R Frants; George W Padberg; Silvère M van der Maarel
Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMD 2005;15(7):471-5.
2005: Yanchao Huang; Peter Verheesen; Andreas Roussis; Wendy S Frankhuizen; Ieke B Ginjaar; Faye Haldane; Steven H Laval; Louise V B Anderson; Theo Verrips; Rune R Frants; Hans de Haard; Kate Bushby; Johan T den Dunnen; Silvère M van der Maarel
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display.
European journal of human genetics : EJHG 2005;13(6):721-30.
2005: Silvère M van der Maarel; Rune R Frants
The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.
American journal of human genetics 2005;76(3):375-86.
2005: Borian T Buzhov; Richard Lemmers; Ivailo Tournev; Chayka Dikova; Ivo Kremensky; Julia Petrova; Rune R Frants; Silvère M van der Maarel
Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.
Human genetics 2005;116(4):262-6.
2005: B Ts Buzhkov; R Vŭzharova; Violeta Dimitrova; I Dimova; I Tŭrnev; Michiel J R van der Wielen; Silvère M van der Maarel; Bert Bakker
[First facioscapulohumeral muscular dystrophy prenatal diagnosis in a Bulgarian family].
Akusherstvo i ginekologii͡a 2005;44(2):30-3.
2004: Richard Lemmers; Marielle Wohlgemuth; Rune R Frants; George W Padberg; Eva Morava; Silvère M van der Maarel
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.
American journal of human genetics 2004;75(6):1124-30.
2004: Tonnie Rijkers; G Deidda; Silvana van Koningsbruggen; Michel van Geel; Richard Lemmers; Judith C T van Deutekom; D Figlewicz; Jane E Hewitt; George W Padberg; Rune R Frants; Silvère M van der Maarel
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.
Journal of medical genetics 2004;41(11):826-36.
2004: Barbara M van der Sluijs; Henk ter Laak; H Scheffer; Silvère M van der Maarel; B G M van Engelen
Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity.
Journal of neurology, neurosurgery, and psychiatry 2004;75(10):1499-501.
2004: Peter S Masny; Ulla Bengtsson; Seung-Ah Chung; Jorge H Martin; B G M van Engelen; Silvère M van der Maarel; Sara T Winokur
Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?
Human molecular genetics 2004;13(17):1857-71.
2004: EL van der Kooi; O J M Vogels; R J G P van Asseldonk; E Lindeman; Jan C M Hendriks; Marielle Wohlgemuth; Silvère M van der Maarel; George W Padberg
Strength training and albuterol in facioscapulohumeral muscular dystrophy.
Neurology 2004;63(4):702-8.
2004: Marielle Wohlgemuth; EL van der Kooi; R G van Kesteren; Silvère M van der Maarel; George W Padberg
Ventilatory support in facioscapulohumeral muscular dystrophy.
Neurology 2004;63(1):176-8.
2004: Richard Lemmers; Petra G M van Overveld; Lodewijk A Sandkuijl; Harry Vrieling; George W Padberg; Rune R Frants; Silvère M van der Maarel
Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.
American journal of human genetics 2004;75(1):44-53.
2004: Richard Lemmers; Michiel J R van der Wielen; Egbert Bakker; George W Padberg; Rune R Frants; Silvère M van der Maarel
Somatic mosaicism in FSHD often goes undetected.
Annals of neurology 2004;55(6):845-50.
2004: Silvana van Koningsbruggen; Roeland W Dirks; A Mieke Mommaas; Jos J M Onderwater; G Deidda; George W Padberg; Rune R Frants; Silvère M van der Maarel
FRG1P is localised in the nucleolus, Cajal bodies, and speckles.
Journal of medical genetics 2004;41(4):e46.
2004: Maria Manuela O Tonini; Rita C M Pavanello; Juliana Gurgel-Giannetti; Richard Lemmers; Silvère M van der Maarel; Rune R Frants; Mayana Zatz
Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype.
Journal of medical genetics 2004;41(2):e17.
2003: Petra G M van Overveld; Richard Lemmers; Lodewijk A Sandkuijl; Leo Enthoven; Sara T Winokur; Floor Bakels; George W Padberg; Gert-Jan B van Ommen; Rune R Frants; Silvère M van der Maarel
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
Nature genetics 2003;35(4):315-7.
2003: Sara T Winokur; Yi-Wen Chen; Peter S Masny; Jorge H Martin; Jeffrey T Ehmsen; Stephen J Tapscott; Silvère M van der Maarel; Yukiko Hayashi; Kevin M Flanigan
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.
Human molecular genetics 2003;12(22):2895-907.
2003: Guanchao Jiang; Fan Yang; Petra G M van Overveld; Vettaikorumakankav Vedanarayanan; Silvère M van der Maarel; Melanie Ehrlich
Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q.
Human molecular genetics 2003;12(22):2909-21.
2003: Barbara M van der Sluijs; Lies Hoefsloot; George W Padberg; Silvère M van der Maarel; B G M van Engelen
Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint.
Journal of neurology 2003;250(11):1307-12.
2003: Wendy A Bickmore; Silvère M van der Maarel
Perturbations of chromatin structure in human genetic disease: recent advances.
Human molecular genetics 2003;12 Spec No 2():R207-13.
2003: Marielle Wohlgemuth; Richard Lemmers; EL van der Kooi; M J van der Wielen; Petra G M van Overveld; Hans Dauwerse; Egbert Bakker; Rune R Frants; George W Padberg; Silvère M van der Maarel
Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles.
Neurology 2003;61(7):909-13.
2003: Silvana van Koningsbruggen; Hans de Haard; Peggy de Kievit; Roeland W Dirks; Alexandra Van Remoortere; Arjan J Groot; B G M van Engelen; Johan T den Dunnen; C Theo Verrips; Rune R Frants; Silvère M van der Maarel
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy.
Journal of immunological methods 2003;279(1-2):149-61.
2003: Miriam Butz; Manuela C Koch; Wolfgang Müller-Felber; Richard Lemmers; Silvère M van der Maarel; Herbert Schreiber
Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers.
Journal of neurology 2003;250(8):932-7.
2003: Richard Lemmers; M Osborn; T Haaf; M Rogers; Rune R Frants; George W Padberg; D N Cooper; Silvère M van der Maarel; M Upadhyaya
D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.
Neurology 2003;61(2):178-83.
2002: Richard Lemmers; Peggy de Kievit; Lodewijk A Sandkuijl; George W Padberg; Gert-Jan B van Ommen; Rune R Frants; Silvère M van der Maarel
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.
Nature genetics 2002;32(2):235-6.
2002: Michel van Geel; Morag C Dickson; Amy F Beck; Daniel J Bolland; Rune R Frants; Silvère M van der Maarel; Pieter J de Jong; Jane E Hewitt
Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin.
Genomics 2002;79(2):210-7.
2002: Michel van Geel; Evan E Eichler; Amy F Beck; Zhihong Shan; Thomas Haaf; Silvère M van der Maarel; Rune R Frants; Pieter J de Jong
A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes.
American journal of human genetics 2002;70(1):269-78.
2001: Peggy de Kievit; Michel van Geel; Michiel J R van der Wielen; Egbert Bakker; George W Padberg; Rune R Frants; Silvère M van der Maarel
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis.
Annals of neurology 2001;50(6):816-9.
2001: RW Tim; Silvère M van der Maarel; Kristi D Viles; Jeffrey M Stajich; R Tawil; E H Bossen; Rune R Frants; A H Friedman; John Gilbert; George W Padberg; Margaret Pericak-Vance; Evadnie Rampersaud; Marcy C Speer
Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy.
Journal of clinical neuromuscular disease 2001;3(1):1-7.
2001: MC Beckers; Jan Gabriels; Silvère M van der Maarel; Astrid De Vriese; R R Frants; Désiré Collen; A Belayew
Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements.
Gene 2001;264(1):51-7.
2000: Petra G M van Overveld; Richard Lemmers; G Deidda; Lodewijk A Sandkuijl; George W Padberg; Rune R Frants; Silvère M van der Maarel
Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity.
Human molecular genetics 2000;9(19):2879-84.
2000: Hans Gerd Nothwang; A Schröer; Silvère M van der Maarel; Sabine Kübart; S Schneider; L Riesselmann; Corinna Menzel; B Hinzmann; D Vogt; A Rosenthal; J Fryns; Niels Tommerup; Thomas Haaf; Hans-Hilger Ropers; Jutta Wirth
Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations.
Cytogenetics and cell genetics 2000;90(1-2):126-33.
2000: M P Scheer; Silvère M van der Maarel; Sabine Kübart; A Schulz; Jutta Wirth; S Schweiger; Hans-Hilger Ropers; Hans Gerd Nothwang
DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner.
Genomics 2000;63(1):123-32.
2000: Silvère M van der Maarel; G Deidda; Richard Lemmers; Petra G M van Overveld; Michiel J R van der Wielen; Jane E Hewitt; Lodewijk A Sandkuijl; Bert Bakker; Gert-Jan B van Ommen; George W Padberg; Rune R Frants
De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.
American journal of human genetics 2000;66(1):26-35.
1999: Silvère M van der Maarel; G Deidda; Richard Lemmers; Egbert Bakker; Michiel J R van der Wielen; Lodewijk A Sandkuijl; Jane E Hewitt; George W Padberg; Rune R Frants
A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD).
Journal of medical genetics 1999;36(11):823-8.
1999: Jan Gabriels; MC Beckers; H Ding; Astrid De Vriese; Stephane Plaisance; Silvère M van der Maarel; George W Padberg; R R Frants; Jane E Hewitt; Désiré Collen; A Belayew
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element.
Gene 1999;236(1):25-32.
1999: Jutta Wirth; Hans Gerd Nothwang; Silvère M van der Maarel; Corinna Menzel; G Borck; I Lopez-Pajares; Karen Brøndum-Nielsen; Niels Tommerup; Merete Bugge; Hans-Hilger Ropers; Thomas Haaf
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.
Journal of medical genetics 1999;36(4):271-8.
1999: Karen Stout; Silvère M van der Maarel; R R Frants; G W Padberg; Hans-Hilger Ropers; Thomas Haaf
Somatic pairing between subtelomeric chromosome regions: implications for human genetic disease?
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 1999;7(5):323-9.
1998: Prabhjit K Grewal; L C Todd; Silvère M van der Maarel; Rune R Frants; Jane E Hewitt
FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates.
Gene 1998;216(1):13-9.
1998: Richard Lemmers; Silvère M van der Maarel; Judith C T van Deutekom; Michiel J R van der Wielen; G Deidda; Hans Dauwerse; J Hewitt; M Hofker; Egbert Bakker; George W Padberg; Rune R Frants
Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.
Human molecular genetics 1998;7(8):1207-14.
1997: K Kingsley; Jutta Wirth; Silvère M van der Maarel; Susanne Freier; Hans-Hilger Ropers; Thomas Haaf
Complex FISH probes for the subtelomeric regions of all human chromosomes: comparative hybridization of CEPH YACs to chromosomes of the Old World monkey Presbytis cristata and great apes.
Cytogenetics and cell genetics 1997;78(1):12-9.