Works matching DE "SARCOGLYCANS"
Results: 56
Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene.
- Published in:
- 2014
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- Publication type:
- Case Study
Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F.
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- Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0127-9
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- Publication type:
- Article
Absence of γ-sarcoglycan alters the response of p70S6 kinase to mechanical perturbation in murine skeletal muscle.
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- Skeletal Muscle, 2014, v. 4, n. 1, p. 1, doi. 10.1186/2044-5040-4-13
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- Publication type:
- Article
A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
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- Skeletal Muscle, 2013, v. 3, n. 1, p. 1, doi. 10.1186/2044-5040-3-3
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- Publication type:
- Article
Leaky ryanodine receptors in ß-sarcoglycan deficient mice: a potential common defect in muscular dystrophy.
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- Skeletal Muscle, 2012, v. 2, n. 1, p. 1, doi. 10.1186/2044-5040-2-9
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- Publication type:
- Article
Sarcoglycan subcomplex and Alpha-Dystroglycan in human digestive tract: immunofluorescence analysis.
- Published in:
- 2018
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- Publication type:
- Abstract
Sarcoglycan sub-complex in the adipose organ: a molecular and immunofluorescence study.
- Published in:
- 2017
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- Publication type:
- Abstract
GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Sarcoglycanopathies: Clinical, Molecular and Genetic Characteristics, Epidemiology, Diagnostics and Treatment Options.
- Published in:
- Russian Journal of Genetics, 2018, v. 54, n. 2, p. 129, doi. 10.1134/S1022795418020059
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- Publication type:
- Article
The Sarcoglycan complex is expressed in the cerebrovascular system and is specifically regulated by astroglial Cx30 channels.
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- Frontiers in Cellular Neuroscience, 2015, v. 8/9, p. 1, doi. 10.3389/fncel.2015.00009
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- Publication type:
- Article
Blockade of sarcolemmal TRPV2 accumulation inhibits progression of dilated cardiomyopathy.
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- Cardiovascular Research, 2013, v. 99, n. 4, p. 760, doi. 10.1093/cvr/cvt163
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- Publication type:
- Article
Characterization of the dystrophin-glycoprotein complex in airway smooth muscle: role of δ-sarcoglycan in airway responsiveness<sup>1</sup>.
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- Canadian Journal of Physiology & Pharmacology, 2015, v. 93, n. 3, p. 195, doi. 10.1139/cjpp-2014-0389
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- Publication type:
- Article
Letter to the editor regarding the article "A case of hypertrophic and dilated cardiomyopathic sudden cardiac death: de novo mutation in TTN and SGCD genes".
- Published in:
- 2017
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- Publication type:
- Letter to the Editor
A hypertrophic and dilated cardiomyopathic sudden cardiac death case; de novo mutations in TTN and SGCD genes.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
β-Sarcoglycan Deficiency Reduces Atherosclerotic Plaque Development in ApoE-Null Mice.
- Published in:
- Journal of Vascular Research, 2017, v. 54, n. 4, p. 235, doi. 10.1159/000478014
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- Publication type:
- Article
SGCD Homozygous Nonsense Mutation (p.Arg97<sup>∗</sup>) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00727
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- Publication type:
- Article
Distribution and coexistence of Myoclonus and Dystonia as clinical Predictors of SGCE Mutation status: a Pilot study.
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- Frontiers in Neurology, 2016, p. 13, doi. 10.3389/fneur.2016.00072
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- Publication type:
- Article
Significant Association Between Variant in SGCD and Age-Related Macular Degeneration.
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- Genes, 2018, v. 9, n. 10, p. 467, doi. 10.3390/genes9100467
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- Publication type:
- Article
Screening proteins that interact with mutant superoxide dismutase 1 from familial amyotrophic lateral sclerosis using a yeast two-hybrid system.
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- Neural Regeneration Research, 2011, v. 6, n. 26, p. 2013, doi. 10.3969/j.issn.1673-5374. 2011.26.002
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- Publication type:
- Article
N-Glycolylneuraminic acid deficiency worsens cardiac and skeletal muscle pathophysiology in α-sarcoglycan-deficient mice.
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- Glycobiology, 2013, v. 23, n. 7, p. 833, doi. 10.1093/glycob/cwt020
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- Publication type:
- Article
Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome.
- Published in:
- 2023
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- Publication type:
- Case Study
A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia.
- Published in:
- 2023
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- Publication type:
- Case Study
Gait Impairment in Myoclonus-Dystonia (DYT-SGCE).
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- Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/tohm.v0.656
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- Publication type:
- Article
A Haplotype of Two Novel Polymorphisms in δ-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid Population.
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- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0145602
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- Publication type:
- Article
Muscle Releases Alpha-Sarcoglycan Positive Extracellular Vesicles Carrying miRNAs in the Bloodstream.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0125094
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- Publication type:
- Article
The CC Genotype of the Delta-Sarcoglycan Gene Polymorphism rs13170573 Is Associated with Obstructive Sleep Apnea in the Chinese Population.
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- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114160
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- Publication type:
- Article
Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation.
- Published in:
- 2017
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- Publication type:
- journal article
Genetic variation at the delta-sarcoglycan ( SGCD) locus elevates heritable sympathetic nerve activity in human twin pairs.
- Published in:
- Journal of Neurochemistry, 2013, v. 127, n. 6, p. 750, doi. 10.1111/jnc.12346
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- Publication type:
- Article
Fibrosis and inflammation are greater in muscles of beta-sarcoglycan-null mouse than mdx mouse.
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- Cell & Tissue Research, 2014, v. 356, n. 2, p. 427, doi. 10.1007/s00441-014-1854-4
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- Publication type:
- Article
Expression of Sarcoglycans in the Human Cerebral Cortex: An Immunohistochemical and Molecular Study.
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- Cells Tissues Organs, 2012, v. 196, n. 5, p. 470, doi. 10.1159/000336842
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- Publication type:
- Article
Sarcoglycans in the Normal and Pathological Breast Tissue of Humans: An Immunohistochemical and Molecular Study.
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- Cells Tissues Organs, 2012, v. 195, n. 6, p. 550, doi. 10.1159/000329508
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- Publication type:
- Article
Angiotensin-dependent autonomic dysregulation precedes dilated cardiomyopathy in a mouse model of muscular dystrophy.
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- Experimental Physiology, 2015, v. 100, n. 7, p. 776, doi. 10.1113/EP085066
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- Publication type:
- Article
Autonomic, locomotor and cardiac abnormalities in a mouse model of muscular dystrophy: targeting the renin-angiotensin system.
- Published in:
- Experimental Physiology, 2014, v. 99, n. 4, p. 627, doi. 10.1113/expphysiol.2013.074336
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- Publication type:
- Article
Simultaneous Pathoproteomic Evaluation of the Dystrophin-Glycoprotein Complex and Secondary Changes in the mdx-4cv Mouse Model of Duchenne Muscular Dystrophy.
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- Biology (2079-7737), 2015, v. 4, n. 2, p. 397, doi. 10.3390/biology4020397
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- Publication type:
- Article
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.
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- Clinical Genetics, 2013, v. 84, n. 4, p. 368, doi. 10.1111/cge.12075
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- Publication type:
- Article
S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 119, doi. 10.1038/ejhg.2013.97
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- Publication type:
- Article
Analysis on sarcoglycans expression as markers of septic cardiomyopathy in sepsis-related death.
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- International Journal of Legal Medicine, 2018, v. 132, n. 6, p. 1685, doi. 10.1007/s00414-018-1840-6
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- Publication type:
- Article
Changes in vascular reactivity of the coronary artery and thoracic aorta in the delta sarcoglycan null mutant mice.
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- Physiology & Pharmacology, 2017, v. 21, n. 4, p. 322
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- Publication type:
- Article
Sarcoglycanopathy - A Rare Case Report and Literature Review.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Sarcoglycan Alpha Mitigates Neuromuscular Junction Decline in Aged Mice by Stabilizing LRP4.
- Published in:
- Journal of Neuroscience, 2018, v. 38, n. 41, p. 8860, doi. 10.1523/JNEUROSCI.0860-18.2018
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- Publication type:
- Article
Founder Mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian Cluster.
- Published in:
- Canadian Journal of Neurological Sciences, 2011, v. 38, n. 5, p. 747
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- Publication type:
- Article
A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D.
- Published in:
- Neurological Research, 2016, v. 38, n. 3, p. 220, doi. 10.1080/01616412.2015.1105625
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- Publication type:
- Article
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 2, p. 358, doi. 10.1007/s00415-013-7203-9
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- Publication type:
- Article
Histopathological and Genetic Features of Patients with Limb Girdle Muscular Dystrophy Type 2C.
- Published in:
- Turkish Journal of Pathology, 2014, v. 30, n. 2, p. 111, doi. 10.5146/tjpath.2014.01239
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- Publication type:
- Article
De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay.
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- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8166-7-25
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- Publication type:
- Article
Progression of neuropsychiatric and cognitive features due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene: a case report.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Myoclonus-dystonia: An under-recognized entity - Report of 5 cases.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies.
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- Journal of Dr. Behcet Uz Children's Hospital, 2017, v. 7, n. 3, p. 247, doi. 10.5222/buchd.2017.247
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- Publication type:
- Article
Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 2, p. 239, doi. 10.1007/s00431-013-2151-z
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- Publication type:
- Article