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Gupta, Vandana, Gianina Ravenscroft, Ranad Shaheen, Emily Todd, Lindsay Swanson, Masaaki Shiina, Kazuhiro Ogata, et al. 2013. “Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination As an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.”. Am J Hum Genet 93 (6): 1108-17.

Gazda, Hanna, Milena Preti, Mee Rie Sheen, Marie-Françoise O’Donohue, Adrianna Vlachos, Stella Davies, Antonis Kattamis, et al. 2012. “Frameshift Mutation in P53 Regulator RPL26 Is Associated With Multiple Physical Abnormalities and a Specific Pre-Ribosomal RNA Processing Defect in Diamond-Blackfan Anemia.”. Hum Mutat 33 (7): 1037-44.

Payne, Elspeth, Niccolò Bolli, Jennifer Rhodes, Omar Abdel-Wahab, Ross Levine, Cyrus Hedvat, Richard Stone, et al. 2011. “Ddx18 Is Essential for Cell-Cycle Progression in Zebrafish Hematopoietic Cells and Is Mutated in Human AML.”. Blood 118 (4): 903-15.

Boria, Ilenia, Emanuela Garelli, Hanna Gazda, Anna Aspesi, Paola Quarello, Elisa Pavesi, Daniela Ferrante, et al. 2010. “The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update.”. Hum Mutat 31 (12): 1269-79.

Bennett, Richard, Hal Schneider, Elicia Estrella, Stephanie Burgess, Andrew Cheng, Caitlin Barrett, Va Lip, et al. 2009. “Automated DNA Mutation Detection Using Universal Conditions Direct Sequencing: Application to Ten Muscular Dystrophy Genes.”. BMC Genet 10: 66.

Laing, Nigel, Danielle Dye, Carina Wallgren-Pettersson, Gabriele Richard, Nicole Monnier, Suzanne Lillis, Thomas Winder, et al. 2009. “Mutations and Polymorphisms of the Skeletal Muscle Alpha-Actin Gene (ACTA1).”. Hum Mutat 30 (9): 1267-77.

Gazda, Hanna, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O’Donohue, Hal Schneider, Natasha Darras, et al. 2008. “Ribosomal Protein L5 and L11 Mutations Are Associated With Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients.”. Am J Hum Genet 83 (6): 769-80.

Buj-Bello, Anna, Françoise Fougerousse, Yannick Schwab, Nadia Messaddeq, Danièle Spehner, Christopher Pierson, Muriel Durand, et al. 2008. “AAV-Mediated Intramuscular Delivery of Myotubularin Corrects the Myotubular Myopathy Phenotype in Targeted Murine Muscle and Suggests a Function in Plasma Membrane Homeostasis.”. Hum Mol Genet 17 (14): 2132-43.

Eisenberg, Iris, Alal Eran, Ichizo Nishino, Maurizio Moggio, Costanza Lamperti, Anthony Amato, Hart Lidov, et al. 2007. “Distinctive Patterns of MicroRNA Expression in Primary Muscular Disorders.”. Proc Natl Acad Sci U S A 104 (43): 17016-21.

Agrawal, Pankaj, Rebecca Greenleaf, Kinga Tomczak, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, William Wallefeld, Nigel Laing, et al. 2007. “Nemaline Myopathy With Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin-Binding Protein, Cofilin-2.”. Am J Hum Genet 80 (1): 162-7.