Exome sequencing in undiagnosed inherited and sporadic ataxias

Por Pyle, Angela, Smertenko, Tania, Bargiela, David, Griffin, Helen, Duff, Jennifer, Appleton, Marie, Douroudis, Konstantinos, Pfeffer, Gerald, Santibanez-Koref, Mauro, Eglon, Gail, Yu-Wai-Man, Patrick, Ramesh, Venkateswaran, Horvath, Rita, Chinnery, Patrick F.
Publicado no Brain (2015)

ANO10 mutations cause ataxia and coenzyme Q(10) deficiency

Por Balreira, Andrea, Boczonadi, Veronika, Barca, Emanuele, Pyle, Angela, Bansagi, Boglarka, Appleton, Marie, Graham, Claire, Hargreaves, Iain P., Rasic, Vedrana Milic, Lochmüller, Hanns, Griffin, Helen, Taylor, Robert W., Naini, Ali, Chinnery, Patrick F., Hirano, Michio, Quinzii, Catarina M., Horvath, Rita
Publicado no J Neurol (2014)

Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion

Por Cotta, Ana, Alston, Charlotte L., Baptista‐Junior, Sidney, Paim, Julia F., Carvalho, Elmano, Navarro, Monica M., Appleton, Marie, Ng, Yi Shiau, Valicek, Jaquelin, da‐Cunha‐Junior, Antonio L., Lima, Maria I., de la Rocque Ferreira, Alessandra, Takata, Reinaldo I., Hargreaves, Iain P., Gorman, Gráinne S., McFarland, Robert, Pierre, Germaine, Taylor, Robert W.
Publicado no JIMD Rep (2020)