van der Maarel,Silvère M

Institution: Leiden University Medical Center, Netherlands

Top Collaborators: Frants RR, Tawil R, Tapscott SJ, Balog J, Straasheijm KR, De Morrée A, Lemmers RJ, Van Engelen BG, Klooster R, Van Der Vliet PJ, Impagliazzo A, De Greef JC, Thijssen PE, Sacconi S, Krom YD, Den Dunnen JT, Padberg GW, Wang J, Grand Moursel L, Van Ommen GJ

Research Interests: Muscular Dystrophy, Patients, Muscle, Disease, Gene, Chromosome, Epigenetic, Chromosomes, Facioscapulohumeral Muscular Dystrophy, Mutations, Human, Skeletal Muscle, Chromatin, Calcium, Therapeutic, Tissue, Mutation, Relaxation, Haplotype, Methylation

Publications
Grants

Information and abstracts for author publications
Published Date	Impact	Publication
11/11/2012	35.5	Nature genetics Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.	Abstract
08/19/2010	31.2	Science (New York, N.Y.) A unifying genetic model for facioscapulohumeral muscular dystrophy.	Abstract
09/26/2013	10.6	American journal of human genetics The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.	Abstract
03/04/2010	10.6	American journal of human genetics Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution.	Abstract
05/19/2011	10.6	American journal of human genetics Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.	Abstract
04/04/2013	8.7	PLoS genetics Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.	Abstract
12/16/2009	6.2	Neurobiology of aging Differential recognition of vascular and parenchymal beta amyloid deposition.	Abstract
09/22/2011	5.7	FASEB journal : official publication of the Federation of American Societies for Experimental Biology Self-regulated alternative splicing at the AHNAK locus.	Abstract
10/05/2009	5.7	Human mutation Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.	Abstract
08/18/2011	4.9	The American journal of pathology Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein.	Abstract
08/04/2012	4.9	The American journal of pathology Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD.	Abstract
04/04/2013	4.8	The Journal of biological chemistry Dysferlin regulates cell adhesion in human monocytes.	Abstract
02/10/2010	4.4	European journal of human genetics : EJHG Therapeutic exon skipping for dysferlinopathies?	Abstract
03/13/2013	4.4	European journal of human genetics : EJHG Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.	Abstract
04/17/2013	4.3	Epigenetics : official journal of the DNA Methylation Society Chromatin remodeling of human subtelomeres and TERRA promoters upon cellular senescence: commonalities and differences between chromosomes.	Abstract
06/01/2012	4.3	Epigenetics : official journal of the DNA Methylation Society Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.	Abstract
11/05/2010	4.1	PloS one Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity.	Abstract
08/04/2010	4.1	PloS one Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.	Abstract
03/10/2010	3.5	FEBS letters Structural basis for a PABPN1 aggregation-preventing antibody fragment in OPMD.	Abstract
06/13/2011	3.4	Neuroscience Transmigration of beta amyloid specific heavy chain antibody fragments across the in vitro blood-brain barrier.	Abstract

Grants Recieved by this author
Budget Start	Budget End	Grant Type	Project Cost	Project Title
4/15/2010	3/31/2014	NIH P01: Research Program Projects	$711,578	The Genetic and Epigenetic Basis for FSHD
9/15/2010	6/30/2013	NIH R21: Exploratory/Developmental Grants	$242,228	Clonal Isogenic and Immortalized FSHD Myoblasts with or without D4Z4 Contraction
6/03/2010	5/31/2013	NIH R21: Exploratory/Developmental Grants	$262,414	Identification of the gene defect underlying ICF2 syndrome
7/01/2008	6/30/2009	NIH R21: Exploratory/Developmental Grants	$136,534	FSHD as a Disorder of Impaired RNA Biogenesis