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Frontiers in Bioscience - Landmark, ISSN 1093-9946, 01/2016, Volume 21, Issue 4, pp. 744 - 756
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 11/2015, Volume 125, Issue 11, pp. 4186 - 4195
Exon skipping uses antisense oligonucleotides as a treatment for genetic diseases. The antisense oligonucleotides used for exon skipping are designed to bypass... 
HEART | MEDICINE, RESEARCH & EXPERIMENTAL | MURINE SKELETAL-MUSCLE | GLYCOPROTEIN COMPLEX | GENE-EXPRESSION | BETA-SARCOGLYCAN | GAMMA-SARCOGLYCAN | MUTATIONS | DELTA-SARCOGLYCAN | SARCOGLYCAN COMPLEX | DROSOPHILA | Genetic Therapy | Muscular Dystrophy, Animal - genetics | Sequence Deletion | Diaphragm - pathology | Dystrophin-Associated Protein Complex - chemistry | Exons | Humans | Muscle, Skeletal - metabolism | Drosophila melanogaster - genetics | Muscular Dystrophy, Animal - pathology | Recombinant Fusion Proteins - metabolism | Muscular Dystrophies, Limb-Girdle - genetics | Myocardium - metabolism | Oligonucleotides, Antisense - therapeutic use | HEK293 Cells | Protein Engineering | Muscular Dystrophy, Animal - therapy | Diaphragm - metabolism | Sarcolemma - metabolism | Sarcoglycans - biosynthesis | Protein Structure, Tertiary | Oligonucleotides, Antisense - pharmacology | Muscular Dystrophies, Limb-Girdle - therapy | RNA, Messenger - genetics | Sarcoglycans - chemistry | Mice, Transgenic | Myocardium - pathology | Sarcoglycans - deficiency | Protein Interaction Mapping | Animals | Sarcoglycans - genetics | Drosophila Proteins - deficiency | Fibrosis | RNA, Messenger - chemistry | Mice | Drosophila Proteins - genetics | Muscle, Skeletal - pathology | Mutation | Codon, Nonsense - genetics | Care and treatment | Gene mutations | Genetic aspects | Genetic engineering | Health aspects | Muscular dystrophy | Methods | Membrane proteins | Gene therapy | Dystrophin | Utrophin | Genes | Rodents
Journal Article
MOVEMENT DISORDERS, ISSN 0885-3185, 11/2016, Volume 31, Issue 11, pp. 1694 - 1703
BackgroundMyoclonus-dystonia is a neurogenic movement disorder caused by mutations in the gene encoding -sarcoglycan. By contrast, mutations in the -, -, -,... 
NERVOUS-SYSTEM | GAMMA-SARCOGLYCAN | PLASMA-MEMBRANE | CLINICAL NEUROLOGY | ALPHA-SARCOGLYCAN | sarcoglycan | ZETA-SARCOGLYCAN | dystonia | GLYCOPROTEIN COMPLEX | DYT11 | MOLECULAR PATHOGENESIS | PSYCHIATRIC-DISORDERS | BETA-SARCOGLYCAN | DELTA-SARCOGLYCAN
Journal Article
Journal Article
Brain, ISSN 0006-8950, 2/2012, Volume 135, Issue 2, pp. 483 - 492
Journal Article
Diabetes, ISSN 0012-1797, 05/2013, Volume 62, Issue 5, pp. 1746 - 1755
We performed a genome-wide association study (GWAS) and a multistage meta-analysis of type 2 diabetes (T2D) in Punjabi Sikhs from India. Our discovery GWAS in... 
GENETIC-VARIATION | DISEASES | GENOTYPE IMPUTATION | GLUCOSE | CARDIOMYOPATHY | ENDOCRINOLOGY & METABOLISM | MUSCLE | BODY-MASS INDEX | HYPERINSULINEMIA | GAMMA-SARCOGLYCAN | EPIDEMIOLOGY | Type 2 diabetes | Physiological aspects | Genetic aspects | Research | Genetic variation | Risk factors | Original Research
Journal Article