Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Sitarz, Kamil"'
Autor:
Sitarz, Kamil Sebastian
OPA1 and MFN2 are two critical mitochondrial membrane proteins required for mitochondrial fusion. OPA1 mutations account for approximately 60% of cases of autosomal-dominant optic atrophy (DOA) and up to 20% of mutational carriers develop a more seve
Externí odkaz:
http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.574568
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Liao, Chunyan, Ashley, Neil, Diot, Alan, Morten, Karl, Phadwal, Kanchan, Williams, Andrew, Fearnley, Ian, Rosser, Lyndon, Lowndes, Jo, Fratter, Carl, Ferguson, David J.P., Vay, Laura, Quaghebeur, Gerardine, Moroni, Isabella, Bianchi, Stefania, Lamperti, Costanza, Downes, Susan M., Sitarz, Kamil S., Flannery, Padraig J., Carver, Janet, Dombi, Eszter, East, Daniel, Laura, Matilde, Reilly, Mary M., Mortiboys, Heather, Prevo, Remko, Campanella, Michelangelo, Daniels, Matthew J., Zeviani, Massimo, Yu-Wai-Man, Patrick, Simon, Anna Katharina, Votruba, Marcela, Poulton, Joanna
Publikováno v:
Neurology
Liao, C, Ashley, N, Diot, A, Morten, K, Phadwal, K, Williams, A, Fearnley, I, Rosser, L, Lowndes, J, Fratter, C, Ferguson, D J P, Vay, L, Quaghebeur, G, Moroni, I, Bianchi, S, Lamperti, C, Downes, S M, Sitarz, K S, Flannery, P J, Carver, J, Dombi, E, East, D, Laura, M, Reilly, M M, Mortiboys, H, Prevo, R, Campanella, M, Daniels, M J, Zeviani, M, Yu-Wai-Man, P, Simon, A K, Votruba, M & Poulton, J 2017, ' Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations ', Neurology, vol. 88, no. 2, pp. 131-142 . https://doi.org/10.1212/WNL.0000000000003491
Digital.CSIC. Repositorio Institucional del CSIC
instname
Liao, C, Ashley, N, Diot, A, Morten, K, Phadwal, K, Williams, A, Fearnley, I, Rosser, L, Lowndes, J, Fratter, C, Ferguson, D J P, Vay, L, Quaghebeur, G, Moroni, I, Bianchi, S, Lamperti, C, Downes, S M, Sitarz, K S, Flannery, P J, Carver, J, Dombi, E, East, D, Laura, M, Reilly, M M, Mortiboys, H, Prevo, R, Campanella, M, Daniels, M J, Zeviani, M, Yu-Wai-Man, P, Simon, A K, Votruba, M & Poulton, J 2017, ' Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations ', Neurology, vol. 88, no. 2, pp. 131-142 . https://doi.org/10.1212/WNL.0000000000003491
Digital.CSIC. Repositorio Institucional del CSIC
instname
© 2016 The Author(s).
[Objective]: To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a protein that is essential for mitochondrial fusion), compared with healthy controls.
[Objective]: To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a protein that is essential for mitochondrial fusion), compared with healthy controls.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::405f90410b7c65c0cc88235b04994e56
Autor:
Sitarz, Kamil S., Elliott, Hannah R., Karaman, Betül S., Relton, Caroline, Chinnery, Patrick F., Horvath, Rita
Publikováno v:
Molecular Genetics and Metabolism. 112(1):57-63
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=base_oa_____::b73f286e3a18855af94cb888f57ceb51
Autor:
Pfeffer, Gerald, Gorman, Gráinne S, Griffin, Helen, Kurzawa-Akanbi, Marzena, Blakely, Emma L, Wilson, Ian, Sitarz, Kamil, Moore, David, Murphy, Julie L, Alston, Charlotte L, Pyle, Angela, Coxhead, Jon, Payne, Brendan, Gorrie, George H, Longman, Cheryl, Hadjivassiliou, Marios, McConville, John, Dick, David, Imam, Ibrahim, Hilton, David, Norwood, Fiona, Baker, Mark R, Jaiser, Stephan R, Yu-Wai-Man, Patrick, Farrell, Michael, McCarthy, Allan, Lynch, Timothy, McFarland, Robert, Schaefer, Andrew M, Turnbull, Douglass M, Horvath, Rita, Taylor, Robert W, Chinnery, Patrick F
Publikováno v:
Brain
Progressive external ophthalmoplegia (PEO) is a canonical feature of mitochondrial disease, but in many patients its genetic basis is unknown. Using exome sequencing, Pfeffer et al. identify mutations in SPG7 as an important cause of PEO associated w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bf779e56f85901986b4970d66d0d324
https://pubmed.ncbi.nlm.nih.gov/24727571
https://pubmed.ncbi.nlm.nih.gov/24727571
Autor:
Yu-Wai-Man, Patrick, Sitarz, Kamil S, Samuels, David C, Griffiths, Philip G, Reeve, Amy K, Bindoff, Laurence A, Horvath, Rita, Chinnery, Patrick F
Pathogenic OPA1 mutations cause autosomal dominant optic atrophy (DOA), a condition characterized by the preferential loss of retinal ganglion cells and progressive optic nerve degeneration. Approximately 20% of affected patients will also develop mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81f898d3c734f13b8c5f8b2ecea61df7
https://www.repository.cam.ac.uk/handle/1810/290356
https://www.repository.cam.ac.uk/handle/1810/290356
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Chunyan Liao, Ashley, Neil, Diot, Alan, Morten, Karl, Phadwal, Kanchan, Williams, Andrew, Fearnley, Ian, Rosser, Lyndon, Lowndes, Jo, Fratter, Carl, Ferguson, David J.P., Vay, Laura, Quaghebeur, Gerardine, Moroni, Isabella, Bianchi, Stefania, Lamperti, Costanza, Downes, Susan M., Sitarz, Kamil S., Flannery, Padraig J., Carver, Janet
Publikováno v:
Neurology; 1/10/2017, Vol. 88 Issue 2, p131-142, 12p, 1 Chart, 4 Graphs
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.