Search results
- 1.0541626 - FGÚ 2022 RIV GB eng J - Journal Article
Oláhová, M. - Peter, B. - Szilagyi, Z. - Diaz-Maldonado, H. - Singh, M. - Sommerville, E. W. - Blakely, E. L. - Collier, J. J. - Hoberg, E. - Stránecký, V. - Hartmannová, H. - Bleyer, A. J. - McBride, K. L. - Bowden, S. A. - Korandová, Zuzana - Pecinová, Alena - Ropers, H.-H. - Kahrizi, K. - Najmabadi, H. - Tarnopolsky, M. A. - Brady, L. I. - Weaver, K. N. - Prada, C. E. - Ounap, K. - Wojcik, M. H. - Pajusalu, S. - Syeda, S. B. - Pais, L. - Estrella, E. A. - Bruels, Ch. C. - Kunkel, L. M. - Kang, P. B. - Bonnen, P. E. - Mráček, Tomáš - Kmoch, S. - Gorman, G. S. - Falkenberg, M. - Gustafsson, C. M. - Taylor, R. W.
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Nature Communications. Roč. 12, č. 1 (2021), č. článku 1135. E-ISSN 2041-1723
R&D Projects: GA MZd(CZ) NV19-07-00149; GA MŠMT(CZ) LQ1604
Research Infrastructure: NCMG II - 90132
Institutional support: RVO:67985823
Keywords : POLRMT * mitochondrial RNA polymerase * mitochondrial transcription * neurological disease
OECD category: Biochemistry and molecular biology
Impact factor: 17.694, year: 2021
Method of publishing: Open access
https://www.nature.com/articles/s41467-021-21279-0
Permanent Link: http://hdl.handle.net/11104/0319159 - 2.0500260 - FGÚ 2019 RIV US eng J - Journal Article
Alston, Ch. L. - Heidler, J. - Dibley, M. G. - Kremer, L. S. - Taylor, L. S. - Fratter, C. - French, C. E. - Glasgow, R. I. C. - Feichtinger, R. G. - Delon, I. - Pagnamenta, A. T. - Dolling, H. - Lemonde, H. - Aiton, N. - Bjornstad, A. - Henneke, L. - Gärtner, J. - Thiele, H. - Tauchmannová, Kateřina - Quaghebeur, G. - Houštěk, Josef - Sperl, W. - Raymond, F. L. - Prokisch, H. - Mayr, J. A. - McFarland, R. - Poulton, J. - Ryan, M. T. - Wittig, I. - Henneke, M. - Taylor, R. W.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
American Journal of Human Genetics. Roč. 103, č. 4 (2018), s. 592-601. ISSN 0002-9297. E-ISSN 1537-6605
R&D Projects: GA ČR(CZ) GB14-36804G
Institutional support: RVO:67985823
Keywords : complex I * NDUFA6 * mitochondrial disease * complexome profiling
OECD category: Biochemistry and molecular biology
Impact factor: 9.924, year: 2018
Permanent Link: http://hdl.handle.net/11104/0292372 - 3.0469609 - ÚFE 2017 RIV GB eng J - Journal Article
Spindler, S. - Ehrig, J. - König, K. - Nowak, T. - Piliarik, Marek - Stein, H.E. - Taylor, R. W. - Garanger, E. - Lecommandoux, S. - Alves, I. D. - Sandoghdar, V.
Visualization of lipids and proteins at high spatial and temporal resolution via interferometric scattering (iSCAT) microscopy.
Journal of Physics D-Applied Physics. Roč. 49, č. 27 (2016), č. článku 274002. ISSN 0022-3727. E-ISSN 1361-6463
Institutional support: RVO:67985882
Keywords : lipid diffusion * protein detection * single molecule detection
Subject RIV: JA - Electronics ; Optoelectronics, Electrical Engineering
Impact factor: 2.588, year: 2016
Permanent Link: http://hdl.handle.net/11104/0267440 - 4.0469548 - FGÚ 2017 RIV GB eng J - Journal Article
Ng, Y. S. - Alston, Ch. L. - Diodato, D. - Morris, A. A. - Ulrick, N. - Kmoch, S. - Houštěk, Josef - Martinelli, D. - Haghighi, A. - Atiq, M. - Gamero, M. A. - Garcia-Martinez, E. - Kratochvílová, H. - Santra, S. - Brown, R. M. - Brown, G. K. - Ragge, N. - Monavari, A. - Pysden, K. - Ravn, K. - Casey, J. P. - Khan, A. - Chakrapani, A. - Vassallo, G. - Simons, C. - McKeever, K. - O´Sullivan, S. - Childs, A.-M. - Ostergaard, E. - Vanderver, A. - Goldstein, A. - Vogt, J. - Taylor, R. W. - McFarland, R.
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
Journal of Medical Genetics. Roč. 53, č. 11 (2016), s. 768-775. ISSN 0022-2593. E-ISSN 1468-6244
R&D Projects: GA ČR(CZ) GB14-36804G
Institutional support: RVO:67985823
Keywords : congenital sensorineural deafness * lactic acidosis * mitochondrial respiratory chain deficiencies * prognosis * renal disease
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 5.451, year: 2016
Permanent Link: http://hdl.handle.net/11104/0267352