Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy - sprookjes - yvandenbroek - TriplyDB

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

http://www.wikidata.org/entity/Q34266481

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Facioscapulohumeral dystrophy: the path to consensus on pathophysiology Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy Upper girdle imaging in facioscapulohumeral muscular dystrophy.Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy Next-generation sequencing analysis of miRNA expression in control and FSHD myogenesis.Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.Expression of FSHD-related DUX4-FL alters proteostasis and induces TDP-43 aggregation Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.Emerging preclinical animal models for FSHD.Muscle Quantitative MR Imaging and Clustering Analysis in Patients with Facioscapulohumeral Muscular Dystrophy Type 1 Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs Genetic and epigenetic contributors to FSHD.Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry.ZNF555 protein binds to transcriptional activator site of 4qA allele and ANT1: potential implication in Facioscapulohumeral dystrophy A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy.Neuromuscular disorders: genes, genetic counseling and therapeutic trials Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1)Facioscapulohumeral muscular dystrophy: Are telomeres the end of the story?Needs and Requirements of Modern Biobanks on the Example of Dystonia Syndromes.Epidemiology of muscular dystrophies in the Mediterranean area.Vaccination in patients with disorders of the muscle and neuromuscular junction.Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Pract Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype.Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.A distal auxiliary element facilitates cleavage and polyadenylation of Dux4 mRNA in the pathogenic haplotype of FSHD.Facioscapulohumeral Muscular Dystrophy.Tissue-specific activities of the Fat1 cadherin cooperate to control neuromuscular morphogenesis.

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Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

http://www.wikidata.org/entity/Q34266481

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2012 nî lūn-bûn

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2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2012 թվականի ապրիլին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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Large-scale population analysi ...... pulohumeral muscular dystrophy

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Large-scale population analysi ...... pulohumeral muscular dystrophy

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Large-scale population analysi ...... pulohumeral muscular dystrophy

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Large-scale population analysi ...... pulohumeral muscular dystrophy

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J.AJHG.2012.02.019

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American Journal of Human Genetics

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Large-scale population analysi ...... pulohumeral muscular dystrophy

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Antonio Di Muzio

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Carlo Pietro Trevisan

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Francesca Greco

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Giovanni Antonini

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Giuliana Galluzzi

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Giuliano Tomelleri

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Isabella Scionti

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Liliana Vercelli

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Lucia Morandi

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Lucia Ruggiero

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P2860

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

Chromosome 4q;10q translocations; comparison with different ethnic populations and FSHD patients

A unifying genetic model for facioscapulohumeral muscular dystrophy

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Mechanisms of development of multiple endocrine neoplasia type 2 and Hirschsprung's disease by ret mutations.

Genetic counselling in facioscapulohumeral muscular dystrophy

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

The multidimensional nature of epigenetic information and its role in disease.

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628-635

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scholarly article

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10.1016/J.AJHG.2012.02.019

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4

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90

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Corrado Angelini

Gabriele Siciliano

Rossella Tupler

Carmelo Rodolico

Woodring E. Wright

Angela Berardinelli

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2012-04-01T00:00:00Z

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223964212

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22482803

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3322229

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