Clinical features of facioscapulohumeral muscular dystrophy 2.
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Facioscapulohumeral dystrophy: the path to consensus on pathophysiologyMechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathiesFacioscapulohumeral muscular dystrophy: consequences of chromatin relaxationTransgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD)Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophyFacioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesisClinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseasesThe FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2DUX4 and DUX4 downstream target genes are expressed in fetal FSHD musclesDe novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.Facioscapulohumeral Dystrophy.Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patternsThe FSHD atrophic myotube phenotype is caused by DUX4 expression.Restrictive lung involvement in facioscapulohumeral muscular dystrophyA unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function.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).Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophyEvolutionary history of linked D4Z4 and Beta satellite clusters at the FSHD locus (4q35).Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.Multiple protein domains contribute to nuclear import and cell toxicity of DUX4, a candidate pathogenic protein for facioscapulohumeral muscular dystrophyDetermining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol.Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular DystrophymiRNA expression in control and FSHD fetal human muscle biopsiesIndividual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.DNA methylation analysis of the macrosatellite repeat associated with FSHD muscular dystrophy at single nucleotide level.Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and diseaseHemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologsMuscle pathology grade for facioscapulohumeral muscular dystrophy biopsies.Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle BiopsiesCorrelation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy.Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHDGenetic and epigenetic contributors to FSHD.
P2860
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P2860
Clinical features of facioscapulohumeral muscular dystrophy 2.
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Clinical features of facioscapulohumeral muscular dystrophy 2.
@ast
Clinical features of facioscapulohumeral muscular dystrophy 2.
@en
Clinical features of facioscapulohumeral muscular dystrophy 2.
@nl
type
label
Clinical features of facioscapulohumeral muscular dystrophy 2.
@ast
Clinical features of facioscapulohumeral muscular dystrophy 2.
@en
Clinical features of facioscapulohumeral muscular dystrophy 2.
@nl
prefLabel
Clinical features of facioscapulohumeral muscular dystrophy 2.
@ast
Clinical features of facioscapulohumeral muscular dystrophy 2.
@en
Clinical features of facioscapulohumeral muscular dystrophy 2.
@nl
P2093
P2860
P1433
P1476
Clinical features of facioscapulohumeral muscular dystrophy 2
@en
P2093
B G M van Engelen
C Desnuelle
G W Padberg
J C de Greef
M Tarnopolsky
R J L F Lemmers
R R Frants
P2860
P304
P356
10.1212/WNL.0B013E3181F96175
P407
P50
P577
2010-10-01T00:00:00Z