Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

por Pyle, Angela, Hudson, Gavin, Wilson, Ian J., Coxhead, Jonathan, Smertenko, Tania, Herbert, Mary, Santibanez-Koref, Mauro, Chinnery, Patrick F.
Publicado 2015

Exome sequencing in undiagnosed inherited and sporadic ataxias

por Pyle, Angela, Smertenko, Tania, Bargiela, David, Griffin, Helen, Duff, Jennifer, Appleton, Marie, Douroudis, Konstantinos, Pfeffer, Gerald, Santibanez-Koref, Mauro, Eglon, Gail, Yu-Wai-Man, Patrick, Ramesh, Venkateswaran, Horvath, Rita, Chinnery, Patrick F.
Publicado 2015

Behr’s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

por Pyle, Angela, Ramesh, Venkateswaran, Bartsakoulia, Marina, Boczonadi, Veronika, Gomez-Duran, Aurora, Herczegfalvi, Agnes, Blakely, Emma L., Smertenko, Tania, Duff, Jennifer, Eglon, Gail, Moore, David, Yu-Wai-Man, Patrick, Douroudis, Konstantinos, Santibanez-Koref, Mauro, Griffin, Helen, Lochmüller, Hanns, Karcagi, Veronika, Taylor, Robert W., Chinnery, Patrick F., Horvath, Rita
Publicado 2014