FXN gene methylation determines carrier status in Friedreich ataxia

por Lam, Christina, Gilliam, Kaitlyn M, Rodden, Layne N, Schadt, Kimberly A, Lynch, David R, Bidichandani, Sanjay
Publicado 2023

Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis

por Yang, Yi, Zhang, Lei, Lynch, David R., Lukas, Thomas, Ahmeti, Kreshnik, Sleiman, Patrick M.A., Ryan, Eanna, Schadt, Kimberly A., Newman, Jordan H., Deng, Han-Xiang, Siddique, Nailah, Siddique, Teepu
Publicado 2016

Frataxin controls ketone body metabolism through regulation of OXCT1

por Dong, Yi NA, Mesaros, Clementina, Xu, Peining, Mercado-Ayón, Elizabeth, Halawani, Sarah, Ngaba, Lucie Vanessa, Warren, Nathan, Sleiman, Patrick, Rodden, Layne N, Schadt, Kimberly A, Blair, Ian A, Lynch, David R
Publicado 2022