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

著者: Czermin, Birgit, Schotta, Gunnar, Hülsmann, Bastian B., Brehm, Alexander, Becker, Peter B., Reuter, Gunter, Imhof, Axel
出版事項 2001

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

著者: 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
出版事項 2012

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

著者: 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
出版事項 2012

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

著者: 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.
出版事項 2010

Respiratory chain deficiency in nonmitochondrial disease

著者: 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
出版年 Neurol Genet (2015)

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

著者: 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
出版事項 2011

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

著者: 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.
出版年 JAMA (2014)

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

著者: 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
出版事項 2012