26000322 |
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
Jackson, CB,
Murayama, K,
Wieczorek, D,
Bolognini, R,
Haack, TB,
Graf, E,
Freisinger, P,
Sperl, W,
Schottmann, G,
Kohda, M,
Hasselmann, O,
Ohtake, A,
Eggimann, S,
Wieland, T,
Memari, Y,
Schaller, A,
Rodenburg, RJ,
Trollmann, R,
Kölker, S,
Mayr, JA,
Nuoffer, JM,
Strom, TM,
Prokisch, H,
Kremer, LS,
Klopstock, T,
de Vries, MC,
Zink, AM,
Alston, CL,
Albrecht, B,
Tokuzawa, Y,
Cremer, K,
Hoffmann, GF,
Büchner, B,
Hahn, D,
Durbin, R,
Kotzaeridou, U,
Santra, S,
Sauer, S,
Engels, H,
Okazaki, Y,
Kishita, Y,
Schuelke, M,
Taylor, RW,
Meitinger, T,
Kolb-Kokocinski, A
|
Ann Clin Transl Neurol |
2015 |