Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis

por Rich, Kelly A., Roggenbuck, Jennifer, Kolb, Stephen J.
Publicado 2021

Update on Biomarkers in Spinal Muscular Atrophy

por Pino, Megan G, Rich, Kelly A, Kolb, Stephen J
Publicado 2021

Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the Clinic

por Roggenbuck, Jennifer, Rich, Kelly A., Vicini, Leah, Palettas, Marilly, Schroeder, Joceyln, Zaleski, Christina, Lincoln, Tara, Drury, Luke, Glass, Jonathan D.
Publicado 2021

A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy

por Roggenbuck, Jennifer, Rich, Kelly, Morales, Ana, Tan, Christopher A., Eck, Douglas, King, Wendy, Vatta, Matteo, Winder, Thomas, Elsheikh, Bakri, Hershberger, Ray E., Kissel, John T.
Publicado 2019

Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

por Rich, Kelly A., Moscarello, Tia, Siskind, Carly, Brock, Guy, Tan, Christopher A., Vatta, Matteo, Winder, Thomas L., Elsheikh, Bakri, Vicini, Leah, Tucker, Brianna, Palettas, Marilly, Hershberger, Ray E., Kissel, John T., Morales, Ana, Roggenbuck, Jennifer
Publicado 2020