Clinical Monitoring in a Patient with Friedreich Ataxia and Osteogenic Sarcoma

por Deutsch, Eric C., Seyer, Lauren A., Perlman, Susan L., Yu, Jeanette, Lynch, David R.
Publicado 2012

Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases—Friedreich's Ataxia Example

por Li, Yanjie, Polak, Urszula, Clark, Amanda D., Bhalla, Angela D., Chen, Yu-Yun, Li, Jixue, Farmer, Jennifer, Seyer, Lauren, Lynch, David, Butler, Jill S., Napierala, Marek
Publicado en Biopreserv Biobank (2016)

Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus

por Li, Yanjie, Lu, Yue, Polak, Urszula, Lin, Kevin, Shen, Jianjun, Farmer, Jennifer, Seyer, Lauren, Bhalla, Angela D., Rozwadowska, Natalia, Lynch, David R., Butler, Jill Sergesketter, Napierala, Marek
Publicado en Hum Mol Genet (2015)

Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants

por Regner, Sean R., Wilcox, Nicholas, Friedman, Lisa S., Seyer, Lauren, Schadt, Kim, Brigatti, Karlla W., Perlman, Susan, Delatycki, Martin, Wilmot, George R., Gomez, Christopher M., Bushara, Khalaf O., Mathews, Katherine D., Subramony, S.H., Ashizawa, Tetsuo, Ravina, Bernard, Brocht, Alicia, Farmer, Jennifer M., Lynch, David R.
Publicado 2012

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 en Ann Clin Transl Neurol (2016)

Frataxin levels in peripheral tissue in Friedreich ataxia

por Lazaropoulos, Michael, Dong, Yina, Clark, Elisia, Greeley, Nathaniel R, Seyer, Lauren A, Brigatti, Karlla W, Christie, Carlton, Perlman, Susan L, Wilmot, George R, Gomez, Christoper M, Mathews, Katherine D, Yoon, Grace, Zesiewicz, Theresa, Hoyle, Chad, Subramony, Sub H, Brocht, Alicia F, Farmer, Jennifer M, Wilson, Robert B, Deutsch, Eric C, Lynch, David R
Publicado en Ann Clin Transl Neurol (2015)