List of works by Silvère M van der Maarel

171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy

scientific article published on 01 July 2010

A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy

scientific article published on 03 May 2018

A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes

scientific article

A community standard format for the representation of protein affinity reagents

scientific article

A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging

scientific article published on June 2013

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

scientific article published on 11 July 2018

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

scientific article

A focal domain of extreme demethylation within D4Z4 in FSHD2.

scientific article published on 2 January 2013

A functional assay to classify ZBTB24 missense variants of unknown significance

scientific article published on 18 June 2019

A genome-wide signature of glucocorticoid receptor binding in neuronal PC12 cells.

scientific article

A novel feed-forward loop between ARIH2 E3-ligase and PABPN1 regulates aging-associated muscle degeneration

scientific article published on 30 January 2014

A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression

scientific article published on 08 December 2021

A unifying genetic model for facioscapulohumeral muscular dystrophy

scientific article

AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration

scientific article

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

scientific article published on 13 October 2017

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.

scientific article published on February 2016

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.

scientific article

Antibodies to active zone protein ERC1 in Lambert-Eaton myasthenic syndrome

scientific article published on 10 April 2013

Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.

scientific article

Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation

scientific article published in Nature Communications

BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.

scientific article published on 4 September 2017

Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: workshop 9th June 2010, LUMC, Leiden, The Netherlands

scientific article published on 16 December 2011

Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle

scientific article

Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling

scientific article

Camelid heavy chain only antibody fragment domain against β-site of amyloid precursor protein cleaving enzyme 1 inhibits β-secretase activity in vitro and in vivo

scientific article published on 6 July 2015

Chromatin remodeling of human subtelomeres and TERRA promoters upon cellular senescence: commonalities and differences between chromosomes

scientific article published on 17 April 2013

Chromosome 10q-linked FSHD identifies <i>DUX4</i> as principal disease gene

scientific article published in 2021

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

scientific article published on 01 October 2018

Clinical Dutch-English Lambert-Eaton Myasthenic Syndrome (LEMS) Tumor Association Prediction Score Accurately Predicts Small-Cell Lung Cancer in the LEMS

scientific article published on 18 January 2011

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York

scientific article

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

scientific article

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

scientific article

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

scientific article

Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy

scientific article published on 21 February 2020

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

scientific article

Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals

scientific article published on 27 July 2016

Correction: Interspecies Translation of Disease Networks Increases Robustness and Predictive Accuracy

scientific article published on 8 November 2011

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

scientific article

Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

scientific article published on February 2016

Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

scientific article

DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.

scientific article published on 3 June 2015

DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix

scientific article

DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis

scientific article

DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis

scientific article published on October 2016

DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy

scientific article

DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression

scientific article published on 01 November 2019

DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double stranded RNA foci in human cell models of FSHD

scientific article published on 19 October 2019

DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy

scientific article

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

scientific article

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

scientific article published on 21 November 2017

Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients

scientific article published on 4 April 2011

Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol

scientific article

Differential myofiber-type transduction preference of adeno-associated virus serotypes 6 and 9.

scientific article

Differential recognition of vascular and parenchymal beta amyloid deposition

scientific article

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

scientific article (publication date: 11 November 2012)

Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.

scientific article

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

scientific article published on 18 March 2015

Dysferlin regulates cell adhesion in human monocytes.

scientific article

Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy

scientific article published on 19 December 2018

Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features

scientific article published on 09 April 2014

Efgartigimod improves muscle weakness in a mouse model for muscle-specific kinase myasthenia gravis

scientific article published on 06 March 2019

Enhanced glutathione PEGylated liposomal brain delivery of an anti-amyloid single domain antibody fragment in a mouse model for Alzheimer's disease

scientific article published on 7 February 2015

Epigenetic mechanisms of facioscapulohumeral muscular dystrophy

scientific article published on 03 August 2008

Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.

scientific article published on 3 August 2011

Erratum: Therapeutic exon skipping for dysferlinopathies?

scholarly article published in European Journal of Human Genetics

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.

scientific article

FRG1P-mediated aggregation of proteins involved in pre-mRNA processing

scientific article published on 14 November 2006

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

scientific article published on 06 July 2018

FSHD1 and FSHD2 form a disease continuum

scientific article published on 12 April 2019

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

scientific article published on 16 October 2018

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).

scientific article

Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers

scientific article published on 26 January 2022

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

scientific article

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

scientific article

Facioscapulohumeral muscular dystrophy

scientific article published on 01 July 2006

Facioscapulohumeral muscular dystrophy

scientific article published on 06 June 2006

Facioscapulohumeral muscular dystrophy

scientific article published on 01 August 2003

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

scientific article

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

scientific article

Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein

scientific article

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3 ⬇️

scientific article published on August 1, 1995

Fusion of hIgG1-Fc to 111In-anti-amyloid single domain antibody fragment VHH-pa2H prolongs blood residential time in APP/PS1 mice but does not increase brain uptake

scientific article published on 18 March 2015

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients

scientific article published on 28 August 2019

Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD

scientific article

Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs

scientific article published on 24 June 2014

Genetic and epigenetic contributors to FSHD.

scientific article

Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments

scientific article published on 12 January 2005

Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study

scientific article published on 18 September 2020

Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions

scientific article

Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation

scientific article published on 19 June 2015

Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin

scientific article published in February 2002

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

scientific article published on 20 May 2015

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

scientific article published on 13 March 2013

High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms

scientific article

Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

scientific article published on 28 May 2020

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

scientific article (publication date: 23 November 2003)

IgG4 autoantibodies against muscle-specific kinase undergo Fab-arm exchange in myasthenia gravis patients

scientific article published on 10 December 2016

IgG4-mediated autoimmune diseases: a niche of antibody-mediated disorders.

scientific article published on 28 January 2018

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies

scientific article

In vivo detection of amyloid-β deposits using heavy chain antibody fragments in a transgenic mouse model for Alzheimer's disease

scientific article

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

scientific article published on 17 November 2015

Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy

scientific article published on 6 July 2016

Integrating gene delivery and gene-editing technologies by adenoviral vector transfer of optimized CRISPR-Cas9 components

scientific article published on 03 January 2020

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. ⬇️

scientific article

Interspecies translation of disease networks increases robustness and predictive accuracy.

scientific article

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD

scientific article

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing

scientific article published on 01 November 2019

Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity.

scientific article published on 5 January 2016

Magnetic resonance imaging correlates with electrical impedance myography in facioscapulohumeral muscular dystrophy

scientific article published on 29 December 2019

Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy

scientific article

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats

scientific article

Minimum information about a protein affinity reagent (MIAPAR)

scientific article published on 01 July 2010

Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells

scientific article

Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein

scientific article published on 18 August 2011

Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres

scientific article

Molecular diagnosis and next generation gene sequencing in neuromuscular clinical practice.

scientific article published on 29 May 2013

MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4.

scientific article published on 02 December 2013

MuSK myasthenia gravis monoclonal antibodies: Valency dictates pathogenicity

scientific article published on 21 February 2019

Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy

scientific article

Multiscale 3D-printing of microfluidic AFM cantilevers

scientific article published on 06 December 2019

Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies

scientific article

Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice

scientific article published on 6 March 2012

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

scientific article published on 28 July 2015

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

scientific article published on May 2016

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

scientific article

Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis

scientific article

Novel protein-protein interactions inferred from literature context

scientific article (publication date: 18 November 2009)

Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy

scientific article

Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint

scientific article published in November 2003

Passive transfer models of myasthenia gravis with muscle-specific kinase antibodies.

scientific article published on 21 January 2018

Pathogenic IgG4 subclass autoantibodies in MuSK myasthenia gravis

scientific article published on December 2012

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

scientific article published on 7 October 2011

Perturbations of chromatin structure in human genetic disease: recent advances.

scientific article

Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1

scientific article published on 08 October 2018

Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation

scientific article

Population-based incidence and prevalence of facioscapulohumeral dystrophy

scientific article (publication date: 16 September 2014)

Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy

scientific article published on 21 January 2020

Prevention of oculopharyngeal muscular dystrophy by muscular expression of Llama single-chain intrabodies in vivo.

scientific article published on 3 March 2009

Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear poly(A)-binding protein with a single-domain intracellular antibody

scientific article published on 30 November 2005

Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display

scientific article

ProteomeBinders: planning a European resource of affinity reagents for analysis of the human proteome

article

Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity

scientific article

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

scientific article (publication date: 9 April 2009)

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy

scientific article published on 01 July 2005

Reliable and controllable antibody fragment selections from Camelid non-immune libraries for target validation

scientific article

Reply to Lévy et al.

scientific article published on 2 June 2010

Reversible aggregation of PABPN1 pre-inclusion structures

scientific article

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

scientific article published on 26 June 2019

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

scientific article published on 6 June 2017

SOX Antibodies in Small-Cell Lung Cancer and Lambert-Eaton Myasthenic Syndrome: Frequency and Relation With Survival

scientific article published on 10 August 2009

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

scientific article

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations

scientific article published on 31 August 2019

Selection and characterization of llama single domain antibodies against N-terminal huntingtin

scientific article

Selection of VHH antibody fragments that recognize different Aβ depositions using complex immune libraries

scientific article

Self-regulated alternative splicing at the AHNAK locus

scientific article

Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development

scientific article published on 01 April 2019

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model

scientific article

Somatic mosaicism in FSHD often goes undetected

scientific article published on 01 June 2004

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

scientific article

Structural basis for a PABPN1 aggregation-preventing antibody fragment in OPMD.

scientific article published on 10 March 2010

Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q ⬇️

scientific article published on September 23, 2003

The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy

scientific article

The Effect of Corticosteroids on Human Choroidal Endothelial Cells: A Model to Study Central Serous Chorioretinopathy

scientific article published on 01 November 2018

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

scientific article (publication date: October 2013)

Therapeutic exon skipping for dysferlinopathies?

scientific article

VH genes in tandem array comprise a repeated germline motif ⬇️

scientific article published on August 15, 1992

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

scientific article published on 01 October 2005

Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution

scientific article published on 4 March 2010

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