Physical and functional association of SU(VAR)3-9 and HDAC1 in Drosophila

by Czermin, Birgit, Schotta, Gunnar, Hülsmann, Bastian B., Brehm, Alexander, Becker, Peter B., Reuter, Gunter, Imhof, Axel
Published 2001

OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

by Sitarz, Kamil S., Almind, Gitte J., Horvath, Rita, Czermin, Birgit, Grønskov, Karen, Pyle, Angela, Taylor, Robert W., Larsen, Michael, Chinnery, Patrick F., Yu-Wai-Man, Patrick
Published 2012

NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome

by Marina, Adela Della, Schara, Ulrike, Pyle, Angela, Möller-Hartmann, Claudia, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Lochmüller, Hanns, Griffin, Helen, Santibanez-Koref, Mauro, Chinnery, Patrick F., Horvath, Rita
Published 2012

The Prevalence and Natural History of Dominant Optic Atrophy due to OPA1 Mutations

by Yu-Wai-Man, Patrick, Griffiths, Philip G., Burke, Ailbhe, Sellar, Peter W., Clarke, Michael P., Gnanaraj, Lawrence, Ah-Kine, Desiree, Hudson, Gavin, Czermin, Birgit, Taylor, Robert W., Horvath, Rita, Chinnery, Patrick F.
Published 2010

Respiratory chain deficiency in nonmitochondrial disease

by Pyle, Angela, Nightingale, Helen J., Griffin, Helen, Abicht, Angela, Kirschner, Janbernd, Baric, Ivo, Cuk, Mario, Douroudis, Konstantinos, Feder, Lea, Kratz, Markus, Czermin, Birgit, Kleinle, Stephanie, Santibanez-Koref, Mauro, Karcagi, Veronika, Holinski-Feder, Elke, Chinnery, Patrick F., Horvath, Rita
Published in Neurol Genet (2015)

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

by Kemp, John P., Smith, Paul M., Pyle, Angela, Neeve, Vivienne C. M., Tuppen, Helen A. L., Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Lochmüller, Hanns, McFarland, Robert, Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M.A., Lightowlers, Robert N., Taylor, Robert W., Horvath, Rita
Published 2011

Use of whole exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiency

by Taylor, Robert W., Pyle, Angela, Griffin, Helen, Blakely, Emma L., Duff, Jennifer, He, Langping, Smertenko, Tania, Alston, Charlotte L., Neeve, Vivienne C., Best, Andrew, Yarham, John W., Kirschner, Janbernd, Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Baric, Ivo, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Kleinle, Stephanie, Morris, Andrew A.M., Vassallo, Grace, Gorman, Grainne S., Ramesh, Venkateswaran, Turnbull, Douglass M., Santibanez-Koref, Mauro, McFarland, Robert, Horvath, Rita, Chinnery, Patrick F.
Published in JAMA (2014)

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

by Neeve, Vivienne C. M., Samuels, David C., Bindoff, Laurence A., van den Bosch, Bianca, Van Goethem, Gert, Smeets, Hubert, Lombès, Anne, Jardel, Claude, Hirano, Michio, DiMauro, Salvatore, De Vries, Maaike, Smeitink, Jan, Smits, Bart W., de Coo, Ireneus F. M., Saft, Carsten, Klopstock, Thomas, Keiling, Bianca-Cortina, Czermin, Birgit, Abicht, Angela, Lochmüller, Hanns, Hudson, Gavin, Gorman, Grainne G., Turnbull, Doug M., Taylor, Robert W., Holinski-Feder, Elke, Chinnery, Patrick F., Horvath, Rita
Published 2012