Improved diagnosis of Duchenne/Becker muscular dystrophy.
Beggs, AH, and Kunkel. 1990. “Improved Diagnosis of Duchenne/Becker Muscular Dystrophy.”. J Clin Invest 85 (3): 613-9.
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Cross-reactive protein in Duchenne muscle.
Hoffman, AH Beggs, Koenig, Kunkel, and Angelini. 1989. “Cross-Reactive Protein in Duchenne Muscle.”. Lancet 2 (8673): 1211-2.
Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis.
Kunkel, AH Beggs, and Hoffman. 1989. “Molecular Genetics of Duchenne and Becker Muscular Dystrophy: Emphasis on Improved Diagnosis.”. Clin Chem 35 (7 Suppl): B21-4.
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.
Ottenheijm, Coen, Danielle Buck, Josine Winter, Claudia Ferrara, Nicoletta Piroddi, Chiara Tesi, Jeffrey Jasper, et al. 2013. “Deleting Exon 55 from the Nebulin Gene Induces Severe Muscle Weakness in a Mouse Model for Nemaline Myopathy.”. Brain 136 (Pt 6): 1718-31.
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.
Winter, Josine Marieke, Danielle Buck, Carlos Hidalgo, Jeffrey Jasper, Fady Malik, Nigel Clarke, Ger Stienen, et al. 2013. “Troponin Activator Augments Muscle Force in Nemaline Myopathy Patients With Nebulin Mutations.”. J Med Genet 50 (6): 383-92.
Selenoprotein N deficiency in mice is associated with abnormal lung development.
Moghadaszadeh, Behzad, Branden Rider, Michael Lawlor, Martin Childers, Robert Grange, Kushagra Gupta, Steve Boukedes, Caroline Owen, and Alan Beggs. 2013. “Selenoprotein N Deficiency in Mice Is Associated With Abnormal Lung Development.”. FASEB J 27 (4): 1585-99.
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
Lawlor, Michael, Dustin Armstrong, Marissa Viola, Jeffrey Widrick, Hui Meng, Robert Grange, Martin Childers, et al. 2013. “Enzyme Replacement Therapy Rescues Weakness and Improves Muscle Pathology in Mice With X-Linked Myotubular Myopathy.”. Hum Mol Genet 22 (8): 1525-38.
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy, Ozge, Pankaj Agrawal, Carlos Hidalgo, Klaus Schmitz-Abe, Elizabeth Dechene, Lindsay Swanson, Rachel Soemedi, et al. 2013. “Recessive Truncating Titin Gene, TTN, Mutations Presenting As Centronuclear Myopathy.”. Neurology 81 (14): 1205-14.
A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.
Gupta, Vandana, Genri Kawahara, Jennifer Myers, Aye Chen, Thomas Hall, Chiara Manzini, Peter Currie, et al. 2012. “A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish.”. PLoS One 7 (8): e43794.
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.
Sankaran, Vijay, Roxanne Ghazvinian, Ron Do, Prathapan Thiru, Jo-Anne Vergilio, Alan Beggs, Colin Sieff, et al. 2012. “Exome Sequencing Identifies GATA1 Mutations Resulting in Diamond-Blackfan Anemia.”. J Clin Invest 122 (7): 2439-43.