23393310 |
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter
Elpeleg, O,
Kellner, Y,
Schechter, A,
Palmieri, L,
Shaag, A,
Saada, A,
Fraenkel, ND,
Edvardson, S,
Scarcia, P,
Frumkin, A,
Korman, SH,
Segel, R,
Pierri, CL,
Soiferman, D,
Pines, O,
Jalas, C,
Porcelli, V
|
J. Med. Genet. |
2013 |
26870663 |
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission
Cossins, J,
Müller, JS,
Palmieri, L,
Abicht, A,
Bushby, K,
Chaouch, A,
Evangelista, T,
Beeson, D,
Töpf, A,
Edvardson, S,
Horvath, R,
Elpeleg, O,
Porcelli, V,
von der Hagen, M,
Lochmüller, H,
Griffin, H,
Pierri, CL,
Huebner, A,
Cox, D,
Laval, SH,
De Grassi, A,
Scarcia, P,
Senderek, J,
Palace, J,
Straub, V
|
J Neuromuscul Dis |
2014 |