MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Acta Neuropathologica
Donkervoort, S S; Sabouny, R R; Yun, P P; Gauquelin, L L; Chao, K R KR; Hu, Y Y; Al Khatib, I I; Töpf, A A; Mohassel, P P; Cummings, B B BB; Kaur, R R; Saade, D D; Moore, S A SA; Waddell, L B LB; Farrar, M A MA; Goodrich, J K JK; Uapinyoying, P P; Chan, S H S SHS; Javed, A A; Leach, M E ME; Karachunski, P P; Dalton, J J; Medne, L L; Harper, A A; Thompson, C C; Thiffault, I I; Specht, S S; Lamont, R E RE; Saunders, C C; Racher, H H; Bernier, F P FP; Mowat, D D; Witting, N N; Vissing, J J; Hanson, R R; Coffman, K A KA; Hainlen, M M; Parboosingh, J S JS; Carnevale, A A; Yoon, G G; Schnur, R E RE; , ; Boycott, K M KM; Mah, J K JK; Straub, V V; Foley, A Reghan AR; Innes, A M AM; Bönnemann, C G CG; Shutt, T E TE
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ