Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
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Facioscapulohumeral dystrophy: the path to consensus on pathophysiologyFacioscapulohumeral Dystrophy.Polycomb repressive complex 1 provides a molecular explanation for repeat copy number dependency in FSHD muscular dystrophy.Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophyIdentifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.Emerging preclinical animal models for FSHD.Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and diseaseMuscle pathology grade for facioscapulohumeral muscular dystrophy biopsies.Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry.New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients.ZNF555 protein binds to transcriptional activator site of 4qA allele and ANT1: potential implication in Facioscapulohumeral dystrophyMutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1)Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.Diagnosis of unilateral trapezius muscle palsy: 54 Cases.Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.A distal auxiliary element facilitates cleavage and polyadenylation of Dux4 mRNA in the pathogenic haplotype of FSHD.Facioscapulohumeral Muscular Dystrophy.A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1
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Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 11 September 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Large scale genotype-phenotype ...... pulohumeral muscular dystrophy
@en
Large scale genotype-phenotype ...... ulohumeral muscular dystrophy.
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type
label
Large scale genotype-phenotype ...... pulohumeral muscular dystrophy
@en
Large scale genotype-phenotype ...... ulohumeral muscular dystrophy.
@nl
prefLabel
Large scale genotype-phenotype ...... pulohumeral muscular dystrophy
@en
Large scale genotype-phenotype ...... ulohumeral muscular dystrophy.
@nl
P2093
P2860
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P356
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Large scale genotype-phenotype ...... pulohumeral muscular dystrophy
@en
P2093
Ana Nikolic
Antonio Di Muzio
Ebe Pastorello
Elisabetta Bucci
Elisabetta Iannaccone
Fabiano Mele
Giovanni Antonini
Giuliana Galluzzi
Giuliano Tomelleri
Ilaria Frambolli
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P304
P356
10.1093/BRAIN/AWT226
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P50
P577
2013-09-11T00:00:00Z