Selenoproteins and Their Impact on Human Health Through Diverse Physiological Pathways

door Moghadaszadeh, Behzad, Beggs, Alan H.
Gepubliceerd in 2006

A polymorphic CACA repeat in the 3′ untranslated region of dystrophin

door Beggs, Alan H., Kunkel, Louis M.
Gepubliceerd in 1990

Kelch proteins: emerging roles in skeletal muscle development and diseases

door Gupta, Vandana A, Beggs, Alan H
Gepubliceerd in 2014

Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy

door Smith, Laura L., Gupta, Vandana A., Beggs, Alan H.
Gepubliceerd in 2014

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.
Gepubliceerd in 2013

Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs

door Childers, Martin K., Beggs, Alan H., Buj-Bello, Ana
Gepubliceerd in Ann Transl Med (2015)

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
Gepubliceerd in J Clin Neuromuscul Dis (2017)

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.
Gepubliceerd in 2007

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
Gepubliceerd in Cytoskeleton (Hoboken) (2018)

Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia

door Kazerounian, Shideh, Yuan, Daniel, Alexander, Matthew S., Beggs, Alan H., Gazda, Hanna T.
Gepubliceerd in Discoveries (Craiova) (2019)

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.
Gepubliceerd in 2008

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.
Gepubliceerd in 2012

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
Gepubliceerd in 2010

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.
Gepubliceerd in 2012

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.
Gepubliceerd in PLoS One (2015)

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.
Gepubliceerd in J Neuromuscul Dis (2019)

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
Gepubliceerd in Hum Mol Genet (2020)

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
Gepubliceerd in 2001

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
Gepubliceerd in 2010

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.
Gepubliceerd in PLoS One (2016)