Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report

por Wakefield, Seth E, Dimberg, Elliot L, Moore, Steven A, Tseng, Brian S
Publicado 2009

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient

por Gass, Jennifer, Blackburn, Patrick, Jackson, Jessica, Harris, Kimberly, Selcen, Duygu, Dimberg, Elliot, Atwal, Paldeep
Publicado 2017

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)

por Swaika, Abhisek, Boczek, Nicole J., Sood, Neha, Guthrie, Kimberly, Klee, Eric W., Agrawal, Ankit, Dimberg, Elliot L., Ailawadhi, Sikander
Publicado 2016

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

por Blackburn, Patrick R., Selcen, Duygu, Gass, Jennifer M., Jackson, Jessica L., Macklin, Sarah, Cousin, Margot A., Boczek, Nicole J., Klee, Eric W., Dimberg, Elliot L., Kennelly, Kathleen D., Atwal, Paldeep S.
Publicado 2017

Diagnostic modelling and therapeutic monitoring of immune-mediated necrotizing myopathy: role of electrical myotonia

por Triplett, James D, Shelly, Shahar, Livne, Guy, Milone, Margherita, Kassardjian, Charles D, Liewluck, Teerin, Kelly, Cecilia, Naddaf, Elie, Laughlin, Ruple S, Lamb, Christopher J, Rubin, Devon, Dimberg, Elliot L, Dubey, Divanshu, Mills, John R, Mandrekar, Jay, Klein, Christopher J
Publicado 2020