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

بواسطة Czermin, Birgit, Schotta, Gunnar, Hülsmann, Bastian B., Brehm, Alexander, Becker, Peter B., Reuter, Gunter, Imhof, Axel
منشور في 2001

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

بواسطة 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
منشور في 2012

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

بواسطة 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
منشور في 2012

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

بواسطة 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.
منشور في 2010

Respiratory chain deficiency in nonmitochondrial disease

بواسطة 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
الحاوية / القاعدة Neurol Genet (2015)

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

بواسطة 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
منشور في 2011

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

بواسطة 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.
الحاوية / القاعدة JAMA (2014)

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

بواسطة 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
منشور في 2012