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171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy

artículo científico publicado en 2010

A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy

artículo científico publicado en 2018

A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes

artículo científico publicado en 2001

A community standard format for the representation of protein affinity reagents

artículo científico publicado en 2009

A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging

artículo científico publicado en 2013

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

artículo científico publicado en 2018

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2015

A focal domain of extreme demethylation within D4Z4 in FSHD2.

artículo científico publicado en 2013

A functional assay to classify ZBTB24 missense variants of unknown significance

scientific article published on 18 June 2019

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

artículo científico publicado en 2012

A novel feed-forward loop between ARIH2 E3-ligase and PABPN1 regulates aging-associated muscle degeneration

artículo científico

A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression

artículo científico publicado en 2021

A unifying genetic model for facioscapulohumeral muscular dystrophy

artículo científico publicado en 2010

AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration

artículo científico publicado en 2007

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

artículo científico publicado en 2017

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Antibodies to active zone protein ERC1 in Lambert-Eaton myasthenic syndrome

artículo científico publicado en 2013

Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.

artículo científico publicado en 2012

Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation

scientific article published in Nature Communications

BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.

artículo científico publicado en 2017

Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: workshop 9th June 2010, LUMC, Leiden, The Netherlands

artículo científico

Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle

artículo científico publicado en 2008

Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling

artículo científico publicado en 2010

Camelid heavy chain only antibody fragment domain against β-site of amyloid precursor protein cleaving enzyme 1 inhibits β-secretase activity in vitro and in vivo

artículo científico publicado en 2015

Chromatin remodeling of human subtelomeres and TERRA promoters upon cellular senescence: commonalities and differences between chromosomes

artículo científico publicado en 2013

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

Clinical Dutch-English Lambert-Eaton Myasthenic Syndrome (LEMS) Tumor Association Prediction Score Accurately Predicts Small-Cell Lung Cancer in the LEMS

artículo científico publicado en 2011

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York

artículo científico publicado en 2015

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

artículo científico publicado en 2009

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

artículo científico publicado en 2011

Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis ⬇️

artículo científico publicado el 1 de diciembre de 2001

Complex FISH probes for the subtelomeric regions of all human chromosomes: comparative hybridization of CEPH YACs to chromosomes of the Old World monkey &lt;i&gt;Presbytis cristat&lt;/i&gt;&lt;i&gt;a&lt;/i&gt; and great apes ⬇️

artículo científico publicado el 1 de enero de 1997

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

artículo científico publicado en 2009

Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy

scientific article published on 21 February 2020

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

artículo científico publicado en 2004

Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals

artículo científico publicado en 2016

Correction: Interspecies Translation of Disease Networks Increases Robustness and Predictive Accuracy

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.

artículo científico publicado en 2015

DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix

artículo científico publicado en 2014

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

artículo científico publicado en 2013

DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis

artículo científico publicado en 2016

DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2014

DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression

artículo científico publicado en 2019

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

scientific article published on 19 October 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients

artículo científico publicado en 2011

Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol

artículo científico publicado en 2013

Differential myofiber-type transduction preference of adeno-associated virus serotypes 6 and 9.

artículo científico publicado en 2015

Differential recognition of vascular and parenchymal beta amyloid deposition

artículo científico publicado en 2009

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

artículo científico publicado en 2012

Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.

artículo científico publicado en 2010

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

Dysferlin regulates cell adhesion in human monocytes.

artículo científico publicado en 2013

Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy

scientific article published on 19 December 2018

Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features

scientific article published on 09 April 2014

Efgartigimod improves muscle weakness in a mouse model for muscle-specific kinase myasthenia gravis

artículo científico publicado en 2019

Enhanced glutathione PEGylated liposomal brain delivery of an anti-amyloid single domain antibody fragment in a mouse model for Alzheimer's disease

artículo científico publicado en 2015

Epigenetic mechanisms of facioscapulohumeral muscular dystrophy

artículo científico publicado en 2008

Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.

artículo científico publicado en 2011

Erratum: Therapeutic exon skipping for dysferlinopathies?

scholarly article published in European Journal of Human Genetics

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.

artículo científico publicado en 2003

FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates ⬇️

artículo científico publicado el 17 de agosto de 1998

FRG1P-mediated aggregation of proteins involved in pre-mRNA processing

artículo científico publicado en 2006

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

artículo científico publicado en 2018

FSHD1 and FSHD2 form a disease continuum

artículo científico publicado en 2019

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

artículo científico publicado en 2018

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).

artículo científico publicado en 2016

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

artículo científico publicado en 2022

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

artículo científico publicado en 2010

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

artículo científico publicado en 2014

Facioscapulohumeral muscular dystrophy

artículo científico publicado en 2006

Facioscapulohumeral muscular dystrophy

artículo científico publicado en 2006

Facioscapulohumeral muscular dystrophy

artículo científico publicado en 2003

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

artículo científico publicado en 2011

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

artículo científico publicado en 2002

Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein

artículo científico publicado en 2011

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3 ⬇️

artículo científico publicado el 1 de agosto de 1995

Fusion of hIgG1-Fc to 111In-anti-amyloid single domain antibody fragment VHH-pa2H prolongs blood residential time in APP/PS1 mice but does not increase brain uptake

artículo científico publicado en 2015

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

scientific article published on 28 August 2019

Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD

artículo científico publicado en 2012

Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs

artículo científico publicado en 2014

Genetic and epigenetic contributors to FSHD.

artículo científico publicado en 2015

Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments

artículo científico publicado en 2005

Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study

scientific article published on 18 September 2020

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

Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation

artículo científico publicado en 2015

Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin

artículo científico publicado en 2002

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

artículo científico publicado en 2015

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

artículo científico publicado en 2013

High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms

artículo científico publicado en 2014

Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

artículo científico publicado en 2020

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

artículo científico publicado en 2003

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

artículo científico publicado en 2016

IgG4-mediated autoimmune diseases: a niche of antibody-mediated disorders.

artículo científico publicado en 2018

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies

artículo científico publicado en 2015

In vivo detection of amyloid-β deposits using heavy chain antibody fragments in a transgenic mouse model for Alzheimer's disease

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2016

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

artículo científico publicado en 2020

Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis ⬇️

artículo científico publicado el 1 de agosto de 1998

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

artículo científico publicado en 2014

Interspecies translation of disease networks increases robustness and predictive accuracy.

artículo científico publicado en 2011

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD

artículo científico publicado en 2013

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

scientific article published on 01 November 2019

Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity.

artículo científico publicado en 2016

Magnetic resonance imaging correlates with electrical impedance myography in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2019

Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2004

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

artículo científico publicado en 2015

Minimum information about a protein affinity reagent (MIAPAR)

artículo científico publicado en 2010

Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells

artículo científico publicado en 2016

Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein

artículo científico

Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres

artículo científico publicado en 2010

Molecular diagnosis and next generation gene sequencing in neuromuscular clinical practice.

artículo científico publicado en 2013

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

scientific article published on 02 December 2013

MuSK myasthenia gravis monoclonal antibodies: Valency dictates pathogenicity

artículo científico publicado en 2019

Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy

artículo científico publicado en 2014

Multiscale 3D-printing of microfluidic AFM cantilevers

scientific article published on 06 December 2019

Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis

artículo científico publicado en 2016

Novel protein-protein interactions inferred from literature context

artículo científico publicado en 2009

Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy

artículo científico publicado en 2013

Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint

artículo científico publicado en 2003

Passive transfer models of myasthenia gravis with muscle-specific kinase antibodies.

artículo científico publicado en 2018

Pathogenic IgG4 subclass autoantibodies in MuSK myasthenia gravis

artículo científico

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

artículo científico publicado en 2011

Perturbations of chromatin structure in human genetic disease: recent advances.

artículo científico publicado en 2003

Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1

scientific article published on 08 October 2018

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

artículo científico publicado en 2012

Population-based incidence and prevalence of facioscapulohumeral dystrophy

artículo científico publicado en 2014

Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy

scientific article published on 21 January 2020

Prevention of oculopharyngeal muscular dystrophy by muscular expression of Llama single-chain intrabodies in vivo

artículo científico publicado en 2009

Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear poly(A)-binding protein with a single-domain intracellular antibody

artículo científico publicado en 2005

Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display

artículo científico publicado en 2005

ProteomeBinders: planning a European resource of affinity reagents for analysis of the human proteome

article

Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity

artículo científico publicado en 2010

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

artículo científico publicado en 2009

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy

artículo científico publicado en 2005

Reliable and controllable antibody fragment selections from Camelid non-immune libraries for target validation

artículo científico publicado en 2006

Reply to Lévy et al.

artículo científico publicado en 2010

Reversible aggregation of PABPN1 pre-inclusion structures

artículo científico publicado en 2011

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

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

artículo científico publicado en 2017

SOX Antibodies in Small-Cell Lung Cancer and Lambert-Eaton Myasthenic Syndrome: Frequency and Relation With Survival

scientific article published on 10 August 2009

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2013

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations

scientific article published on 31 August 2019

Selection and characterization of llama single domain antibodies against N-terminal huntingtin

artículo científico publicado en 2014

Selection of VHH antibody fragments that recognize different Aβ depositions using complex immune libraries

artículo científico publicado en 2012

Self-regulated alternative splicing at the AHNAK locus

artículo científico publicado en 2012

Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development

scientific article published on 01 April 2019

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model

artículo científico publicado en 2017

Somatic mosaicism in FSHD often goes undetected

scientific article published on 01 June 2004

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

Structural basis for a PABPN1 aggregation-preventing antibody fragment in OPMD.

artículo científico publicado en 2010

Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q ⬇️

artículo científico publicado el 23 de septiembre de 2003

The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy

artículo científico publicado en 2005

The Effect of Corticosteroids on Human Choroidal Endothelial Cells: A Model to Study Central Serous Chorioretinopathy

scientific article published on 01 November 2018

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

artículo científico publicado en 2013

Therapeutic exon skipping for dysferlinopathies?

artículo científico publicado en 2010

VH genes in tandem array comprise a repeated germline motif ⬇️

artículo científico publicado el 15 de agosto de 1992

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2005

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

artículo científico publicado en 2010

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