Zoekresultaten - Beggs, Alan H

Selenoproteins and Their Impact on Human Health Through Diverse Physiological Pathways door Moghadaszadeh, Behzad, Beggs, Alan H.

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A polymorphic CACA repeat in the 3′ untranslated region of dystrophin door Beggs, Alan H., Kunkel, Louis M.

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Kelch proteins: emerging roles in skeletal muscle development and diseases door Gupta, Vandana A, Beggs, Alan H

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Analysis of Skeletal Muscle Defects in Larval Zebrafish by Birefringence and Touch-evoke Escape Response Assays door Smith, Laura L., Beggs, Alan H., Gupta, Vandana A.

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Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy door Smith, Laura L., Gupta, Vandana A., Beggs, Alan H.

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A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop door Karakaya, Mert, Ceyhan-Birsoy, Ozge, Beggs, Alan H., Topaloglu, Haluk

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Myofiber Size Correlates with MTM1 Mutation Type and Outcome in X-linked Myotubular Myopathy door Pierson, Christopher R., Agrawal, Pankaj B., Blasko, Jessica, Beggs, Alan H.

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Sarcomeric and non-muscle α-actinin isoforms exhibit differential dynamics at skeletal muscle Z-lines door Hsu, Cynthia P, Moghadaszadeh, Behzad, Hartwig, John H, Beggs, Alan H

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Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia door Kazerounian, Shideh, Yuan, Daniel, Alexander, Matthew S., Beggs, Alan H., Gazda, Hanna T.

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Dynamic regulation of endothelial NOS mediated by competitive interaction with α-actinin-4 and calmodulin door Hiroi, Yukio, Guo, Zhongmin, Li, Yuxin, Beggs, Alan H., Liao, James K.

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Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle mai... door Agrawal, Pankaj B., Joshi, Mugdha, Savic, Talia, Chen, Zoe, Beggs, Alan H.

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Cell Membrane Expression of Cardiac Sodium Channel Na(v)1.5 Is Modulated by α-Actinin-2 Interaction door Ziane, Rahima, Huang, Hai, Moghadaszadeh, Behzad, Beggs, Alan H., Levesque, Georges, Chahine, Mohamed

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α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms door Gupta, Vandana, Discenza, Marie, Guyon, Jeffrey R., Kunkel, Louis M., Beggs, Alan H.

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Skeletal Muscle MicroRNA and Messenger RNA Profiling in Cofilin-2 Deficient Mice Reveals Cell Cycle Dysregulation Hindering Muscle Regeneration door Morton, Sarah U., Joshi, Mugdha, Savic, Talia, Beggs, Alan H., Agrawal, Pankaj B.

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Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens door Widrick, Jeffrey J., Kawahara, Genri, Alexander, Matthew S., Beggs, Alan H., Kunkel, Louis M.

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Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype door Rosen, Samantha M, Joshi, Mugdha, Hitt, Talia, Beggs, Alan H, Agrawal, Pankaj B

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Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion door Lawlor, Michael W., DeChene, Elizabeth T., Roumm, Emily, Geggel, Amelia S., Moghadaszadeh, Behzad, Beggs, Alan H

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Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3 door Mizuno, Yuji, Puca, Annibale A, O'Brien, Kristine F, Beggs, Alan H, Kunkel, Louis M

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Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative In... door Cacioppo, Cara N., Chandler, Ariel E., Towne, Meghan C., Beggs, Alan H., Holm, Ingrid A.

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Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy door Lloyd, Andrew, Aggio, Daniel, Slocomb, Ted L., Lee, Jun, Beggs, Alan H., Bilder, Deborah A.

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