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 |
26741492 |
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies
Suzuki, T,
Borna, NN,
Okazaki, Y,
Ohnuma, K,
Kishita, Y,
Nyuzuki, H,
Nakachi, Y,
Harashima, H,
Tokuzawa, Y,
Sato-Miyata, Y,
Matsuda, F,
Aigaki, T,
Okuda, A,
Nagao, A,
Moriyama, Y,
Kaiho-Ichimoto, K,
Yamazaki, T,
Yatsuka, Y,
Fushimi, T,
Mori, M,
Higasa, K,
Yasuda, J,
Nagasaki, M,
Ohtake, A,
Mizuno, Y,
Kohda, M,
Yamamoto, M,
Maehata, H,
Yamashita-Sugahara, Y,
Kato, H,
Hirata, T,
Murayama, K,
Shimura, M,
Banshoya, K,
Tamaru, S
|
PLoS Genet |
2016 |