| 26000322 |
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
Haack, TB,
Jackson, CB,
Murayama, K,
Kremer, LS,
Schaller, A,
Kotzaeridou, U,
de Vries, MC,
Schottmann, G,
Santra, S,
Büchner, B,
Wieland, T,
Graf, E,
Freisinger, P,
Eggimann, S,
Ohtake, A,
Okazaki, Y,
Kohda, M,
Kishita, Y,
Tokuzawa, Y,
Sauer, S,
Memari, Y,
Kolb-Kokocinski, A,
Durbin, R,
Hasselmann, O,
Cremer, K,
Albrecht, B,
Wieczorek, D,
Engels, H,
Hahn, D,
Zink, AM,
Alston, CL,
Taylor, RW,
Rodenburg, RJ,
Trollmann, R,
Sperl, W,
Strom, TM,
Hoffmann, GF,
Mayr, JA,
Meitinger, T,
Bolognini, R,
Schuelke, M,
Nuoffer, JM,
Kölker, S,
Prokisch, H,
Klopstock, T
|
Ann Clin Transl Neurol |
2015 |
| 26099313 |
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome
Tetreault, M,
Fahiminiya, S,
Antonicka, H,
Mitchell, GA,
Geraghty, MT,
Lines, M,
Boycott, KM,
Shoubridge, EA,
Mitchell, JJ,
Care4Rare Canada Consortium, -,
Michaud, JL,
Majewski, J
|
Hum Genet |
2015 |