Published in Neurology on October 26, 2010
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. Am J Hum Genet (2012) 1.88
Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. Trends Mol Med (2011) 1.80
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. Hum Mol Genet (2012) 1.48
The FSHD atrophic myotube phenotype is caused by DUX4 expression. PLoS One (2011) 1.45
DNA methylation analysis of the macrosatellite repeat associated with FSHD muscular dystrophy at single nucleotide level. PLoS One (2014) 1.44
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Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. Hum Mol Genet (2014) 1.11
A focal domain of extreme demethylation within D4Z4 in FSHD2. Neurology (2013) 1.08
If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). Contemp Clin Trials (2011) 1.08
Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. PLoS Genet (2013) 1.08
DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy? J Cell Mol Med (2012) 1.06
Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells. Hum Mol Genet (2013) 1.06
Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD. Epigenetics (2012) 1.06
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? Hum Genet (2011) 1.04
Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD. Am J Pathol (2012) 1.00
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1. Eur J Hum Genet (2014) 1.00
Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns. PLoS One (2011) 0.99
Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies. Biochim Biophys Acta (2013) 0.97
Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation. Curr Opin Neurol (2012) 0.88
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscul Disord (2013) 0.88
Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy. Clin Epigenetics (2015) 0.88
Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy. Eur J Hum Genet (2014) 0.87
Genetic and epigenetic contributors to FSHD. Curr Opin Genet Dev (2015) 0.87
Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease. Antioxid Redox Signal (2014) 0.86
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. J Med Genet (2011) 0.85
Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs. Hum Mutat (2014) 0.84
Multiple protein domains contribute to nuclear import and cell toxicity of DUX4, a candidate pathogenic protein for facioscapulohumeral muscular dystrophy. PLoS One (2013) 0.83
Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing. Clin Epigenetics (2014) 0.83
Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases. Phys Med Rehabil Clin N Am (2012) 0.83
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. Am J Hum Genet (2016) 0.82
Restrictive lung involvement in facioscapulohumeral muscular dystrophy. Muscle Nerve (2014) 0.81
Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats. Neurology (2015) 0.80
Facioscapulohumeral muscular dystrophy. Neurol Clin (2014) 0.80
Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2. Eur J Hum Genet (2015) 0.79
Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome. Hum Mutat (2015) 0.79
Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears. Curr Mol Med (2014) 0.79
Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy. J Neuromuscul Dis (2015) 0.78
Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD). PLoS One (2016) 0.77
Evolutionary history of linked D4Z4 and Beta satellite clusters at the FSHD locus (4q35). Genomics (2012) 0.77
Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol. BMC Neurol (2013) 0.76
ZNF555 protein binds to transcriptional activator site of 4qA allele and ANT1: potential implication in Facioscapulohumeral dystrophy. Nucleic Acids Res (2015) 0.76
miRNA expression in control and FSHD fetal human muscle biopsies. PLoS One (2015) 0.76
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet (2017) 0.76
Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy. Elife (2016) 0.75
Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy. J Neurol (2016) 0.75
Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies. J Neuromuscul Dis (2015) 0.75
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Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies. Muscle Nerve (2015) 0.75
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet (1992) 5.12
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
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
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat (2009) 2.84
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet (2007) 2.54
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet (2002) 2.42
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