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

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

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

por 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
Publicado 2012

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

por 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
Publicado 2012

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

por 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.
Publicado 2010

Respiratory chain deficiency in nonmitochondrial disease

por 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
Publicado en Neurol Genet (2015)

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

por 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
Publicado 2011

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

por 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.
Publicado en JAMA (2014)

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

por 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
Publicado 2012