Published in Skelet Muscle on February 01, 2014
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Skelet Muscle (2014) 1.16
Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease. Antioxid Redox Signal (2014) 0.86
Expression of FSHD-related DUX4-FL alters proteostasis and induces TDP-43 aggregation. Ann Clin Transl Neurol (2015) 0.79
vSDC: a method to improve early recognition in virtual screening when limited experimental resources are available. J Cheminform (2016) 0.77
Nuclear bodies reorganize during myogenesis in vitro and are differentially disrupted by expression of FSHD-associated DUX4. Skelet Muscle (2016) 0.76
PARP1 Differentially Interacts with Promoter region of DUX4 Gene in FSHD Myoblasts. J Genet Syndr Gene Ther (2016) 0.75
Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD). Genes (Basel) (2017) 0.75
DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy. PLoS Genet (2017) 0.75
Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy. Intractable Rare Dis Res (2016) 0.75
Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy. Elife (2016) 0.75
ABT-263: a potent and orally bioavailable Bcl-2 family inhibitor. Cancer Res (2008) 9.65
New substructure filters for removal of pan assay interference compounds (PAINS) from screening libraries and for their exclusion in bioassays. J Med Chem (2010) 6.54
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet (1992) 5.12
A unifying genetic model for facioscapulohumeral muscular dystrophy. Science (2010) 4.87
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet (1993) 4.21
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet (2003) 3.60
Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell (2002) 3.56
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A (2007) 3.32
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) 3.00
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet (2009) 2.90
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord (2007) 2.85
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat (2009) 2.84
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J (2008) 2.74
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet (2007) 2.54
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet (2003) 2.50
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain (2009) 2.38
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet (2004) 1.72
Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscul Disord (2003) 1.56
DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation. Exp Neurol (2008) 1.48
Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats. PLoS One (2009) 1.25
Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction. Free Radic Biol Med (2012) 0.99