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

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

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

af 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
Udgivet 2012

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

af 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
Udgivet 2012

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

af 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.
Udgivet 2010

Respiratory chain deficiency in nonmitochondrial disease

af 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
Udgivet i Neurol Genet (2015)

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

af 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
Udgivet 2011

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

af 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.
Udgivet i JAMA (2014)

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

af 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
Udgivet 2012