Silencing of drpr Leads to Muscle and Brain Degeneration in Adult Drosophila

Por Draper, Isabelle, Mahoney, Lane J., Mitsuhashi, Satomi, Pacak, Christina A., Salomon, Robert N., Kang, Peter B.
Publicado em 2014

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

Por Boyden, Steven E, Duncan, Anna R, Estrella, Elicia A, Lidov, Hart GW, Mahoney, Lane J, Katz, Jonathan S, Kunkel, Louis M, Kang, Peter B
Publicado em 2011

A homozygous nonsense mutation in SGCA is a common cause of LGMD in Assiut, Egypt

Por Reddy, Hemakumar M., Hamed, Sherifa A., Lek, Monkol, Mitsuhashi, Satomi, Estrella, Elicia, Jones, Michael D., Mahoney, Lane J., Duncan, Anna R., Cho, Kyungah, MacArthur, Daniel G., Kunkel, Louis M., Kang, Peter B.
Publicado no Muscle Nerve (2016)

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

Por Boyden, Steven E., Mahoney, Lane J., Kawahara, Genri, Myers, Jennifer A., Mitsuhashi, Satomi, Estrella, Elicia A., Duncan, Anna R., Dey, Friederike, DeChene, Elizabeth T., Blasko-Goehringer, Jessica M., Bönnemann, Carsten G., Darras, Basil T., Mendell, Jerry R., Lidov, Hart G. W., Nishino, Ichizo, Beggs, Alan H., Kunkel, Louis M., Kang, Peter B.
Publicado em 2012

Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype–Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy

Por Böhm, Johann, Biancalana, Valérie, DeChene, Elizabeth T., Bitoun, Marc, Pierson, Christopher R., Schaefer, Elise, Karasoy, Hatice, Dempsey, Melissa A., Klein, Fabrice, Dondaine, Nicolas, Kretz, Christine, Haumesser, Nicolas, Poirson, Claire, Toussaint, Anne, Greenleaf, Rebecca S., Barger, Melissa A., Mahoney, Lane J., Kang, Peter B., Zanoteli, Edmar, Vissing, John, Witting, Nanna, Echaniz-Laguna, Andoni, Wallgren-Pettersson, Carina, Dowling, James, Merlini, Luciano, Oldfors, Anders, Ousager, Lilian Bomme, Melki, Judith, Krause, Amanda, Jern, Christina, Oliveira, Acary S. B., Petit, Florence, Jacquette, Aurélia, Chaussenot, Annabelle, Mowat, David, Leheup, Bruno, Cristofano, Michele, Aldea, Juan José Poza, Michel, Fabrice, Furby, Alain, Llona, Jose E. Barcena, Van Coster, Rudy, Bertini, Enrico, Urtizberea, Jon Andoni, Drouin-Garraud, Valérie, Béroud, Christophe, Prudhon, Bernard, Bedford, Melanie, Mathews, Katherine, Erby, Lori A. H., Smith, Stephen A., Roggenbuck, Jennifer, Crowe, Carol A., Spitale, Allison Brennan, Johal, Sheila C., Amato, Anthony A., Demmer, Laurie A., Jonas, Jessica, Darras, Basil T., Bird, Thomas D., Laurino, Mercy, Welt, Selman I., Trotter, Cynthia, Guicheney, Pascale, Das, Soma, Mandel, Jean-Louis, Beggs, Alan H., Laporte, Jocelyn
Publicado em 2012