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Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

author

Farzad Fatehi

Guilhem Solé

1978 -

Thierry Kuntzer

Frederique Magdinier

1970 -

published in: International Journal of Molecular Sciences

date of publication: 2020-03-23

Cites articles 36

Date

Title

Authors

2019-04-01

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

Stéphane Roche, Camille Laberthonnière, Alexandra D Gurzau, Christopher T Gordon, Jérome Déjardin, Jérôme D Robin, Frederique Magdinier, Marnie Blewitt, Bernd Wollnik, James Murphy
2019-11-14

Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

Stéphane Roche, Camille Laberthonnière, Jérôme D Robin, Frederique Magdinier
2017-02-17

The Epigenetic Regulator SMCHD1 in Development and Disease

James Murphy, Marnie Blewitt
2016-01-05

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

Giulia Ricci, Francesco Sera, Giacomo Brisca, Chiara Fiorillo, Lorenzo Maggi, Gabriele Siciliano, Corrado Angelini, Carmelo Rodolico, Angela Berardinelli
2015-01-21

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Emmanuelle Salort-Campana, Julien Niederhauser, Frederique Magdinier, Elisabeth Jouve, Sabrina Sacconi, Marc Bartoli, Nicolas Levy, Christine Tranchant, Thierry Kuntzer, Marie-Christine Arné-Bes
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FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1).

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2015-07-01

New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients
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Genetic and epigenetic contributors to FSHD.

Lucia Daxinger, Silvère M van der Maarel
2015-11-11

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats

Silvère M van der Maarel
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Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

Stéphane Roche, Marc Bartoli, Frederique Magdinier
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Population-based incidence and prevalence of facioscapulohumeral dystrophy

Hisse Arnts, Silvère M van der Maarel, Jan J Verschuuren
2014-09-25

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

Pilar Camaño, Daniel G. Miller, Jan J Verschuuren, Adolfo López de Munain, Sabrina Sacconi, Silvère M van der Maarel
2014-10-17

Direct interplay between two candidate genes in FSHD muscular dystrophy

Davide Gabellini, Roberta Caccia
2013-01-02

A focal domain of extreme demethylation within D4Z4 in FSHD2.

Michael Kyba, Silvère M van der Maarel
2013-09-11

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

Roberto D'Amico, Giulia Ricci, Rossella Tupler, Angela Berardinelli, Lorenzo Maggi, Carmelo Rodolico, Massimiliano Filosto, Francesco Sera, Enzo Ricci, Lucio Santoro, Gabriele Siciliano, Corrado Angelini, Maurizio Moggio, Tiziana Mongini
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The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1

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2012-02-21

Mutation spectrum and phenotypic manifestation in FSHD Greek patients
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Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

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171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy

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Cisca Wijmenga

Article - wd:Q90632425

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