Lista de obras -

A unifying genetic model for facioscapulohumeral muscular dystrophy

artículo científico publicado en 2010

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

artículo científico publicado en 2017

Chromosome 10q-linked FSHD identifies <i>DUX4</i> as principal disease gene

artículo científico publicado en 2021

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

scientific article published on 01 October 2018

Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

artículo científico publicado en 2016

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

artículo científico publicado en 2017

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

artículo científico publicado en 2012

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

artículo científico publicado en 2015

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

artículo científico publicado en 2018

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

artículo científico publicado en 2018

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients

scientific article published on 28 August 2019

Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions

artículo científico publicado en 2013

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

artículo científico publicado en 2015

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing

scientific article published on 01 November 2019

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

artículo científico publicado en 2018

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

artículo científico publicado en 2016

Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1

scientific article published on 08 October 2018

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

artículo científico publicado en 2019

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

artículo científico publicado en 2007

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

artículo científico publicado en 2013

Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution

artículo científico publicado en 2010

Lista de obras de

A unifying genetic model for facioscapulohumeral muscular dystrophy

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

Chromosome 10q-linked FSHD identifies <i>DUX4</i> as principal disease gene

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients

Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

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

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

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

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution