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Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 5, p. 801, doi. 10.3233/JND-210653
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- Article
Self-regulated alternative splicing at the AHNAK locus.
- Published in:
- FASEB Journal, 2012, v. 26, n. 1, p. 93, doi. 10.1096/fj.11-187971
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- Publication type:
- Article
Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).
- Published in:
- 2016
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- Publication type:
- journal article
Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions.
- Published in:
- BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-143
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- Publication type:
- Article
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5342, doi. 10.1093/hmg/ddu251
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- Publication type:
- Article
Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2191, doi. 10.1093/hmg/ddq098
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- Publication type:
- Article
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 13, p. 2414, doi. 10.1093/hmg/ddp180
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- Publication type:
- Article
Prevention of oculopharyngeal muscular dystrophy by muscular expression of Llama single-chain intrabodies in vivo.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 10, p. 1849, doi. 10.1093/hmg/ddp101
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- Publication type:
- Article
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1855, doi. 10.1093/hmg/ddn081
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- Publication type:
- Article
Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear poly(A)-binding protein with a single-domain intracellular antibody.
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- Human Molecular Genetics, 2006, v. 15, n. 1, p. 105, doi. 10.1093/hmg/ddi432
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- Publication type:
- Article
DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix.
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- European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1117, doi. 10.1038/ejhg.2013.306
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- Publication type:
- Article
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.
- Published in:
- 2018
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- Publication type:
- journal article
Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 185, doi. 10.1038/ejhg.2011.150
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- Publication type:
- Article
Therapeutic exon skipping for dysferlinopathies?
- Published in:
- 2010
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- Publication type:
- Correction notice
Therapeutic exon skipping for dysferlinopathies?
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 889, doi. 10.1038/ejhg.2010.4
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- Publication type:
- Article
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
- Published in:
- Nature Genetics, 2003, v. 35, n. 4, p. 315, doi. 10.1038/ng1262
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- Publication type:
- Article
DUX4 Binding to Retroelements Creates Promoters That Are Active in FSHD Muscle and Testis.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 11, p. 1, doi. 10.1371/journal.pgen.1003947
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- Publication type:
- Article
Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 4, p. 1, doi. 10.1371/journal.pgen.1003415
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- Publication type:
- Article
Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD).
- Published in:
- PLoS Genetics, 2009, v. 5, n. 7, p. 1, doi. 10.1371/journal.pgen.1000559
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- Publication type:
- Article
A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.04996.001
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- Publication type:
- Article
Meeting report: the 2020 FSHD International Research Congress.
- Published in:
- Skeletal Muscle, 2020, v. 10, n. 1, p. 1, doi. 10.1186/s13395-020-00253-2
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- Publication type:
- Article
Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice.
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- Skeletal Muscle, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13395-020-00247-0
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- Publication type:
- Article
Phenotype‐genotype relations in facioscapulohumeral muscular dystrophy type 1.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 521, doi. 10.1111/cge.13446
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- Publication type:
- Article
IgG4‐mediated autoimmune diseases: a niche of antibody‐mediated disorders.
- Published in:
- Annals of the New York Academy of Sciences, 2018, v. 1413, n. 1, p. 92, doi. 10.1111/nyas.13561
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- Publication type:
- Article
Passive transfer models of myasthenia gravis with muscle‐specific kinase antibodies.
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- Annals of the New York Academy of Sciences, 2018, v. 1413, n. 1, p. 111, doi. 10.1111/nyas.13543
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- Publication type:
- Article
Pathogenic IgG4 subclass autoantibodies in MuSK myasthenia gravis.
- Published in:
- Annals of the New York Academy of Sciences, 2012, v. 1275, n. 1, p. 114, doi. 10.1111/j.1749-6632.2012.06808.x
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- Publication type:
- Article
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1302, doi. 10.1002/acn3.51612
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- Publication type:
- Article
Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type.
- Published in:
- Frontiers in Aging Neuroscience, 2018, p. 1, doi. 10.3389/fnagi.2018.00102
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- Publication type:
- Article
In Vivo Detection of Amyloid-b Deposits Using Heavy Chain Antibody Fragments in a Transgenic Mouse Model for Alzheimer's Disease.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038284
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- Publication type:
- Article
Proteomic Analysis of the Dysferlin Protein Complex Unveils Its Importance for Sarcolemmal Maintenance and Integrity.
- Published in:
- PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0013854
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- Publication type:
- Article
Calpain 3 Is a Rapid-Action, Unidirectional Proteolytic Switch Central to Muscle Remodeling.
- Published in:
- PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0011940
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- Publication type:
- Article
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.
- Published in:
- Nature Genetics, 2002, v. 32, n. 2, p. 235, doi. 10.1038/ng999
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- Publication type:
- Article
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 11, p. 1567, doi. 10.3390/biom13111567
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- Publication type:
- Article
BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.
- Published in:
- Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0134-x
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- Publication type:
- Article
SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.
- Published in:
- Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0129-7
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- Publication type:
- Article
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.
- Published in:
- Skeletal Muscle, 2014, v. 4, n. 1, p. 1, doi. 10.1186/2044-5040-4-12
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- Publication type:
- Article
Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study.
- Published in:
- PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0239329
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- Publication type:
- Article
Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol.
- Published in:
- BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-144
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- Publication type:
- Article
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy.
- Published in:
- BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-70
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- Publication type:
- Article
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation.
- Published in:
- Nucleic Acids Research, 2012, v. 40, n. 18, p. 9089, doi. 10.1093/nar/gks655
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- Publication type:
- Article
Change of voltage‐gated sodium channel repertoire in skeletal muscle of a MuSK myasthenia gravis mouse model.
- Published in:
- European Journal of Neuroscience, 2024, v. 59, n. 12, p. 3292, doi. 10.1111/ejn.16347
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- Publication type:
- Article
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1449, doi. 10.1002/humu.21091
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- Publication type:
- Article
Development and characterization of agonistic antibodies targeting the Ig-like 1 domain of MuSK.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-32641-1
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- Publication type:
- Article
Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 4, p. 1081, doi. 10.1093/brain/aws025
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- Publication type:
- Article
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration.
- Published in:
- FASEB Journal, 2007, v. 21, n. 3, p. 732, doi. 10.1096/fj.06-6628com
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- Publication type:
- Article
Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 11, p. 1307, doi. 10.1007/s00415-003-0201-6
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- Publication type:
- Article
Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-04817-8
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- Publication type:
- Article
SATB1, genomic instability and Gleason grading constitute a novel risk score for prostate cancer.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-03702-0
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- Publication type:
- Article