Lista de obras -

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.

artículo científico publicado en 2009

Collagen VI deficiency reduces muscle pathology, but does not improve muscle function, in the γ-sarcoglycan-null mouse

artículo científico publicado en 2016

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

artículo científico publicado en 2009

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

artículo científico publicado en 2012

Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

artículo científico publicado en 2016

Cytoskeletal disorganization underlies PABPN1-mediated myogenic disability

artículo científico publicado en 2020

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

artículo científico publicado en 2012

Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice

artículo científico publicado en 2020

Epigenetic mechanisms of facioscapulohumeral muscular dystrophy

artículo científico publicado en 2008

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

scientific article published on 28 August 2019

Mouse models for muscular dystrophies: an overview

artículo científico publicado en 2020

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

artículo científico publicado en 2015

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

artículo científico publicado en 2011

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

artículo científico publicado en 2011

Protective role for the N-terminal domain of α-dystroglycan in Influenza A virus proliferation.

artículo científico publicado en 2019

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model

artículo científico publicado en 2017

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

artículo científico publicado en 2009

The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy

scientific article published on 10 August 2020

Lista de obras de

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.

Collagen VI deficiency reduces muscle pathology, but does not improve muscle function, in the γ-sarcoglycan-null mouse

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

Cytoskeletal disorganization underlies PABPN1-mediated myogenic disability

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

Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice

Epigenetic mechanisms of facioscapulohumeral muscular dystrophy

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

Mouse models for muscular dystrophies: an overview

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

Protective role for the N-terminal domain of α-dystroglycan in Influenza A virus proliferation.

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy