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Maarel, S.M. van der
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Lemmers, R.J.L.F.
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Tapscott, S.J.
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Tawil, R.
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Autoantibody subclass predominance is not driven by aberrant class switching or impaired B cell development
Optical genome mapping for the molecular diagnosis of facioscapulohumeral muscular dystrophy
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy
DUX4 expression in cancer induces a metastable early embryonic totipotent program
Neuromuscular disease genetics in under-represented populations
SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action
Development and characterization of agonistic antibodies targeting the Ig-like 1 domain of MuSK
Enrichment of serum IgG4 in MuSK myasthenia gravis patients
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy
Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers
Elevated plasma complement components in facioscapulohumeral dystrophy
SATB1, genomic instability and Gleason grading constitute a novel risk score for prostate cancer
A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression
Systemic delivery of a DUX4-targeting antisense oligonucleotide to treat facioscapulohumeral muscular dystrophy
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect
Identical twins carry a persistent epigenetic signature of early genome programming
Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models
Functional monovalency amplifies the pathogenicity of anti-MuSK IgG4 in myasthenia gravis
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene
Profiling serum antibodies against muscle antigens in facioscapulohumeral muscular dystrophy finds no disease-specific autoantibodies
Meeting report: the 2020 FSHD international research congress
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