Search

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.

Lawlor, Michael, Benjamin Read, Rachel Edelstein, Nicole Yang, Christopher Pierson, Matthew Stein, Ariana Wermer-Colan, et al. 2011. “Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice.”. Am J Pathol 178 (2): 784-93.

Markert, Meaney, Voelker, Grange, Dalley, Cann, Ahmed, et al. 2010. “Functional Muscle Analysis of the Tcap Knockout Mouse.”. Hum Mol Genet 19 (11): 2268-83.

Ottenheijm, Coen, Pleuni Hooijman, Elizabeth Dechene, Ger Stienen, Alan Beggs, and Henk Granzier. 2010. “Altered Myofilament Function Depresses Force Generation in Patients With Nebulin-Based Nemaline Myopathy (NEM2).”. J Struct Biol 170 (2): 334-43.