Giving Life To Muscles

Publications

One of the most important parts of science is telling people about your results. This is usually done in the form of a paper in a scientific journal (a publication).

Results from experiments that test theories and hypotheses are peer-reviewed for quality and thoroughness and then published. This way scientists, clinicians, and the community can see what works, what doesn’t, and it gives the researcher who did the work ownership of the project.

FSHD Global encourages researchers we fund to publish as much of their work as possible to help drive the discovery of treatments and cures.

Here are a number of articles written about studies that were made possible through FSHD Global funding. Many of these will also have summaries written about them in the news section of the website.

Read Previous Publications

  • Framing childhood-onset facioscapulohumeral dystrophy: from first symptoms to future trials by Katy de Valle 2026
  • DUX4 reduction and muscle function improvement by subcutaneous delivery of gapmer antisense oligonucleotides by Chen YW 2026
  • A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles by David Gabellini 2016
  • Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney by Silvere van der Maarel 2016b
  • Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2 by Silvere van der Maarel 2016
  • Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation by Marnie Blewitt 2015
  • DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD by Silvere van der Maarel 2015
  • Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4 by Silvere van der Maarel 2015b
  • Genetic and epigenetic contributors to FSHD by Silvere van der Maarel 2015
  • Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences by Scott Harper 2015
  • Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome by Silvere Van der Maarel
  • The Role of D4Z4-Encoded Proteins in the Osteogenic Differentiation of Mesenchymal Stromal Cells Isolated from Bone Marrow by Alexandra Belayew 2015
  • Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome by Christine Mitchell 2015
  • FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1) by Francoise Helmbacher 2015
  • Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy by Davide Gabellini 2014c
  • DNA methylation analysis of the macrosatellite repeat associated with FSHD muscular dystrophy at single nucleotide level by Davide Gabellini 2014b
  • Direct interplay between two candidate genes in FSHD muscular dystrophy by Davide Gabellini 2014
  • Long noncoding RNAs, emerging players in muscle differentiation and disease by Michael Kyba 2014
  • Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy by Francoise Helmbacher 2013
  • DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 cells by Yi-Wen Chen 2013
  • Overexpression of facioscapulohumeral muscular dystrophy region gene 1 causes primary defects in myogenic stem cells by Davide Gabellini 2013c
  • FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis by Davide Gabellini 2013b
  • Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD) by Davide Gabellini 2013
  • Deciphering transcription dysregulation in FSH muscular dystrophy by Melanie Ehrlich 2012

  • FSHD myotubes with different phenotypes exhibit distinct proteomes by Alexandra Belayew 2012

  • A novel molecular mechanism in human genetic disease: a DNA repeat-derived lncRNA by Davide Gabellini 2012c

  • A repetitive elements perspective in Polycomb epigenetics by Davide Gabellini 2012b

  • A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy by Davide Gabellini 2012

  • RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy by Scott Harper 2012

  • AAV6-mediated systemic shRNA delivery reverses disease in a mouse model of facioscapulohumeral muscular dystrophy by Davide Gabellini 2011
  • Replication timing of human telomeres is chromosome arm-specific, influenced by subtelomeric structures and connected to nuclear localization by Frederique Magdinier 2010
  • Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy by Christine Mitchell 2008
Scroll to Top