Search

Majczenko, Karen, Ann Davidson, Sandra Camelo-Piragua, Pankaj Agrawal, Richard Manfready, Xingli Li, Sucheta Joshi, et al. 2012. “Dominant Mutation of CCDC78 in a Unique Congenital Myopathy With Prominent Internal Nuclei and Atypical Cores.”. Am J Hum Genet 91 (2): 365-71.

Winter, Josine, Barbara Joureau, Vasco Sequeira, Nigel Clarke, Jolanda Velden, Ger Stienen, Henk Granzier, Alan Beggs, and Coen Ottenheijm. 2015. “Effect of Levosimendan on the Contractility of Muscle Fibers from Nemaline Myopathy Patients With Mutations in the Nebulin Gene.”. Skelet Muscle 5: 12.

Sarwal, Aarti, Michael Cartwright, Francis Walker, Erin Mitchell, Anna Buj-Bello, Alan Beggs, and Martin Childers. 2014. “Ultrasound Assessment of the Diaphragm: Preliminary Study of a Canine Model of X-Linked Myotubular Myopathy.”. Muscle Nerve 50 (4): 607-9.

Ravenscroft, Gianina, Satoko Miyatake, Vilma-Lotta Lehtokari, Emily Todd, Pauliina Vornanen, Kyle Yau, Yukiko Hayashi, et al. 2013. “Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy.”. Am J Hum Genet 93 (1): 6-18.

North, Kathryn, Ching Wang, Nigel Clarke, Heinz Jungbluth, Mariz Vainzof, James Dowling, Kimberly Amburgey, et al. 2014. “Approach to the Diagnosis of Congenital Myopathies.”. Neuromuscul Disord 24 (2): 97-116.

Gupta, Vandana, Karim Hnia, Laura Smith, Stacey Gundry, Jessica McIntire, Junko Shimazu, Jessica Bass, et al. 2013. “Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-Related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish.”. PLoS Genet 9 (6): e1003583.

Dowling, James, Romain Joubert, Sean Low, Ashley Durban, Nadia Messaddeq, Xingli Li, Ashley Dulin-Smith, et al. 2012. “Myotubular Myopathy and the Neuromuscular Junction: A Novel Therapeutic Approach from Mouse Models.”. Dis Model Mech 5 (6): 852-9.

Böhm, Johann, Valérie Biancalana, Elizabeth Dechene, Marc Bitoun, Christopher Pierson, Elise Schaefer, Hatice Karasoy, et al. 2012. “Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy.”. Hum Mutat 33 (6): 949-59.

Boyden, Steven, Lane Mahoney, Genri Kawahara, Jennifer Myers, Satomi Mitsuhashi, Elicia Estrella, Anna Duncan, et al. 2012. “Mutations in the Satellite Cell Gene MEGF10 Cause a Recessive Congenital Myopathy With Minicores.”. Neurogenetics 13 (2): 115-24.

Gupta, Vandana, Marie Discenza, Jeffrey Guyon, Louis Kunkel, and Alan Beggs. 2012. “α-Actinin-2 Deficiency Results in Sarcomeric Defects in Zebrafish That Cannot Be Rescued by α-Actinin-3 Revealing Functional Differences Between Sarcomeric Isoforms.”. FASEB J 26 (5): 1892-908.