Muscular dystrophy research: what have we learned and where do we go from here?
Boyce, AH Beggs, and Kunkel. 1991. “Muscular Dystrophy Research: What Have We Learned and Where Do We Go from Here?”. Res Publ Assoc Res Nerv Ment Dis 69: 121-7.
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Defective dystrophin in Duchenne and Becker dystrophy myotubes in cell culture.
Sklar, AH Beggs, Lev, Specht, Shapiro, and Brown. 1990. “Defective Dystrophin in Duchenne and Becker Dystrophy Myotubes in Cell Culture.”. Neurology 40 (12): 1854-8.
Extinction of JC virus tumor-antigen expression in glial cell--fibroblast hybrids.
Beggs, AH, Frisque, and Scangos. 1988. “Extinction of JC Virus Tumor-Antigen Expression in Glial Cell--Fibroblast Hybrids.”. Proc Natl Acad Sci U S A 85 (20): 7632-6.
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy.
Lamont, Phillipa, William Wallefeld, David Hilton-Jones, Bjarne Udd, Zohar Argov, Alexandru Barboi, Carsten Bonneman, et al. 2014. “Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy.”. Hum Mutat.
Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.
Childers, Martin, Romain Joubert, Karine Poulard, Christelle Moal, Robert Grange, Jonathan Doering, Michael Lawlor, et al. 2014. “Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy.”. Sci Transl Med 6 (220): 220ra10.
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
Zukosky, Kristen, Katherine Meilleur, Bryan Traynor, Jahannaz Dastgir, Livija Medne, Marcella Devoto, James Collins, et al. 2015. “Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.”. JAMA Neurol 72 (6): 689-98.
Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome.
Thaker, Vidhu, Kristyn Esteves, Meghan Towne, Catherine Brownstein, Philip James, Laura Crowley, Joel Hirschhorn, et al. 2015. “Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome.”. J Clin Endocrinol Metab 100 (5): 1723-30.
X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.
Shelton, Diane, Branden Rider, Georgina Child, Sophia Tzannes, Ling Guo, Behzad Moghadaszadeh, Emily Troiano, Bianca Haase, Claire Wade, and Alan Beggs. 2015. “X-Linked Myotubular Myopathy in Rottweiler Dogs Is Caused by a Missense Mutation in Exon 11 of the MTM1 Gene.”. Skelet Muscle 5 (1): 1.
Mutation update: the spectra of nebulin variants and associated myopathies.
Lehtokari, Vilma-Lotta, Kirsi Kiiski, Sarah Sandaradura, Jocelyn Laporte, Pauliina Repo, Jennifer Frey, Kati Donner, et al. 2014. “Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies.”. Hum Mutat 35 (12): 1418-26.
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Agrawal, Pankaj, Christopher Pierson, Mugdha Joshi, Xiaoli Liu, Gianina Ravenscroft, Behzad Moghadaszadeh, Tiffany Talabere, et al. 2014. “SPEG Interacts With Myotubularin, and Its Deficiency Causes Centronuclear Myopathy With Dilated Cardiomyopathy.”. Am J Hum Genet 95 (2): 218-26.