Search

Search results

19 results found

Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration.

Publication: Journal Article

Morton, Sarah, Mugdha Joshi, Talia Savic, Alan Beggs, and Pankaj Agrawal. 2015. “Skeletal Muscle MicroRNA and Messenger RNA Profiling in Cofilin-2 Deficient Mice Reveals Cell Cycle Dysregulation Hindering Muscle Regeneration.”. PLoS One 10 (4): e0123829.

Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.

Publication: Journal Article

Ceyhan-Birsoy, Ozge, Beril Talim, Lindsay Swanson, Mert Karakaya, Michelle Graff, Alan Beggs, and Haluk Topaloglu. 2015. “Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.”. J Neuromuscul Dis 2 (1): 87-92.

Gait characteristics in a canine model of X-linked myotubular myopathy.

Publication: Journal Article

Goddard, Melissa, Emily Burlingame, Alan Beggs, Anna Buj-Bello, Martin Childers, Anthony Marsh, and Valerie Kelly. 2014. “Gait Characteristics in a Canine Model of X-Linked Myotubular Myopathy.”. J Neurol Sci 346 (1-2): 221-6.

Alan H. Beggs

Page

Curriculum Vitae Alan Beggs is director of The Manton Center for Orphan Disease Research at Boston Children’s Hospital and the Sir Edwin and Lady Manton Professor of Pediatrics at Harvard Medical School. He received his A.B. degree in biology at Cornell University and his Ph.D. degree in human...

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

Publication: Journal Article

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.

Publication: Journal Article

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.

Publication: Journal Article

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.

Publication: Journal Article

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.

Publication: Journal Article

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.

Kelch proteins: emerging roles in skeletal muscle development and diseases.

Publication: Journal Article

Gupta, Vandana, and Alan Beggs. 2014. “Kelch Proteins: Emerging Roles in Skeletal Muscle Development and Diseases.”. Skelet Muscle 4: 11.