Identification of a novel missense mutation in Friedreich's ataxia –FXN(W) (168R)

por Clark, Elisia, Strawser, Cassandra, Schadt, Kimberly, Lynch, David R.
Publicado 2019

Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes

por Guo, Lili, Wang, Qingqing, Weng, Liwei, Hauser, Lauren A., Strawser, Cassandra J., Mesaros, Clementina, Lynch, David R., Blair, Ian A.
Publicado 2018

Low apolipoprotein A-I levels in Friedreich’s ataxia and in frataxin-deficient cells: Implications for therapy

por Wang, QingQing, Guo, Lili, Strawser, Cassandra J., Hauser, Lauren A., Hwang, Wei-Ting, Snyder, Nathaniel W., Lynch, David R., Mesaros, Clementina, Blair, Ian A.
Publicado 2018

Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich’s ataxia patients

por Nachun, Daniel, Gao, Fuying, Isaacs, Charles, Strawser, Cassandra, Yang, Zhongan, Dokuru, Deepika, Van Berlo, Victoria, Sears, Renee, Farmer, Jennifer, Perlman, Susan, Lynch, David R, Coppola, Giovanni
Publicado 2018

Progression of Friedreich ataxia: quantitative characterization over 5 years

por Patel, Maya, Isaacs, Charles J., Seyer, Lauren, Brigatti, Karlla, Gelbard, Sarah, Strawser, Cassandra, Foerster, Debbie, Shinnick, Julianna, Schadt, Kimberly, Yiu, Eppie M., Delatycki, Martin B., Perlman, Susan, Wilmot, George R., Zesiewicz, Theresa, Mathews, Katherine, Gomez, Christopher M., Yoon, Grace, Subramony, Sub H., Brocht, Alicia, Farmer, Jennifer, Lynch, David R.
Publicado 2016