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Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy

Clinical genetics, 2020-06, Vol.97 (6), p.799-814

2020

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Population-based incidence and prevalence of facioscapulohumeral dystrophy

Neurology, 2014-09, Vol.83 (12), p.1056-1059

2014

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p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models

Nature genetics, 2021-08, Vol.53 (8), p.1207-1220

2021

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MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4

Proceedings of the National Academy of Sciences - PNAS, 2013-12, Vol.110 (51), p.20783-20788

2013

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Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice

Brain (London, England : 1878), 2012-04, Vol.135 (Pt 4), p.1081-1101

2012

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Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Science (American Association for the Advancement of Science), 2010-09, Vol.329 (5999), p.1650-1653

2010

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Integrating gene delivery and gene-editing technologies by adenoviral vector transfer of optimized CRISPR-Cas9 components

Gene therapy, 2020-05, Vol.27 (5), p.209-225

2020

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Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

PLoS genetics, 2010-10, Vol.6 (10), p.e1001181-e1001181

2010

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DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

Human molecular genetics, 2014-10, Vol.23 (20), p.5342-5352

2014

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

American journal of human genetics, 2013-10, Vol.93 (4), p.744-751

2013

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DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis

PLoS genetics, 2013-11, Vol.9 (11), p.e1003947-e1003947

2013

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Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs

Human mutation, 2014-08, Vol.35 (8), p.998-1010

2014

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Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

Neurology, 2020-06, Vol.94 (23), p.e2441

2020

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DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy

PLoS genetics, 2017-03, Vol.13 (3), p.e1006658-e1006658

2017

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Multiscale 3D-printing of microfluidic AFM cantilevers

Lab on a chip, 2020-01, Vol.2 (2), p.311-319

2020

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Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation

Nucleic acids research, 2012-10, Vol.40 (18), p.9089-9101

2012

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Genetic and epigenetic contributors to FSHD

Current opinion in genetics & development, 2015-08, Vol.33, p.56-61

2015

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NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins

eLife, 2018-03, Vol.7

2018

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snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis

Human molecular genetics, 2024-01, Vol.33 (3), p.284-298

2024

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Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers

Scientific reports, 2022-01, Vol.12 (1), p.1426-18, Article 1426

2022

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Facioscapulohumeral muscular dystrophy

Muscle & nerve, 2006-07, Vol.34 (1), p.1-15

2006

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A genome-wide signature of glucocorticoid receptor binding in neuronal PC12 cells

BMC neuroscience, 2012-10, Vol.13 (1), p.118-118, Article 118

2012

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IgG4 autoantibodies against muscle-specific kinase undergo Fab-arm exchange in myasthenia gravis patients

Journal of autoimmunity, 2017-02, Vol.77, p.104-115

2017

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DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double-stranded RNA foci in human cell models of FSHD

Human molecular genetics, 2019-12, Vol.28 (23), p.3997-4011

2019

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Functional monovalency amplifies the pathogenicity of anti-MuSK IgG4 in myasthenia gravis

Proceedings of the National Academy of Sciences - PNAS, 2021-03, Vol.118 (13), p.1-11

2021

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Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy

Population-based incidence and prevalence of facioscapulohumeral dystrophy

p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models

MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4

Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice

Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Integrating gene delivery and gene-editing technologies by adenoviral vector transfer of optimized CRISPR-Cas9 components

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

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

DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis

Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs

Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy

Multiscale 3D-printing of microfluidic AFM cantilevers

Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation

Genetic and epigenetic contributors to FSHD

NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins

snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis

Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers

Facioscapulohumeral muscular dystrophy

A genome-wide signature of glucocorticoid receptor binding in neuronal PC12 cells

IgG4 autoantibodies against muscle-specific kinase undergo Fab-arm exchange in myasthenia gravis patients

DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double-stranded RNA foci in human cell models of FSHD

Functional monovalency amplifies the pathogenicity of anti-MuSK IgG4 in myasthenia gravis

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