Positive Attitudes and Therapeutic Misconception Around Hypothetical Clinical Trial Participation in the Huntington’s Disease Community

por Cotter, Kristina, Siskind, Carly E., Sha, Sharon J., Hanson-Kahn, Andrea K.
Publicado 2019

Charcot Marie Tooth disease type 4J with complex central nervous system features

por Orengo, James P., Khemani, Pravin, Day, John W., Li, Jun, Siskind, Carly E.
Publicado 2018

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy

por Sullivan, Jeremy M., Zimanyi, Christina M., Aisenberg, William, Bears, Breanne, Chen, Dong-Hui, Day, John W., Bird, Thomas D., Siskind, Carly E., Gaudet, Rachelle, Sumner, Charlotte J.
Publicado 2015

X inactivation in females with X-linked Charcot–Marie–Tooth disease

por Murphy, Sinéad M., Ovens, Richard, Polke, James, Siskind, Carly E., Laurà, Matilde, Bull, Karen, Ramdharry, Gita, Houlden, Henry, Murphy, Raymond P.J., Shy, Michael E., Reilly, Mary M.
Publicado 2012

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