المؤلفون: Olahova, Monika

مصطلحات موضوعية: 571.1

الاتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.515017

المؤلفون: Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Berges M, Glasgow RIC, Thompson K, Olahova M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H, Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG

المصدر: American Journal of Human Genetics, 2 January 2025

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/303503; https://eprints.ncl.ac.uk/fulltext.aspx?url=303503/922AD009-FB94-4872-A518-4DC14C02B1D6.pdf&pub_id=303503

الاتاحة: https://eprints.ncl.ac.uk/303503

المؤلفون: Van Haute L, Palenikova P, Tang JX, Nash PA, Simon MT, Pyle A, Olahova M, Powell CA, Rebelo-Guiomar P, Stover A, Champion M, Deshpande C, Baple EL, Stals KL, Ellard S, Anselem O, Molac C, Petrilli G, Loeuillet L, Grotto S, Attie-Bitach T, Abdenur JE, Taylor RW, Minczuk M

المصدر: EMBO Molecular Medicine, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/302757; https://eprints.ncl.ac.uk/fulltext.aspx?url=302757/75CC4A37-2848-4B84-9207-BAD31BDC4443.pdf&pub_id=302757

الاتاحة: https://eprints.ncl.ac.uk/302757

المؤلفون: Smith TB, Rea A, Thomas HB, Thompson K, Olahova M, Maroofian R, Zamani M, He L, Sadeghian S, Galehdari H, Lotan NS, Gilboa T, Herman KC, McCorvie TJ, Yue WW, Houlden H, Taylor RW, Newman WG, O'Keefe RT

المصدر: European Journal of Human Genetics, 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/293043; https://eprints.ncl.ac.uk/fulltext.aspx?url=293043/302F43BD-A4D3-43AF-9AF0-747F18349588.pdf&pub_id=293043

الاتاحة: https://eprints.ncl.ac.uk/293043

المؤلفون: Aldosary M, Alsagob M, AlQudairy H, Gonzalez-Alvarez AC, Arold ST, Dababo MA, Alharbi OA, Almass R, AlBakheet A, AlSarar D, Qari A, Al-Ansari MM, Olahova M, Al-Shahrani SA, AlSayed M, Colak D, Taylor RW, AlOwain M, Kaya N

المصدر: Cells, October 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/287345; https://eprints.ncl.ac.uk/fulltext.aspx?url=287345/D1655427-6410-497A-A494-0A30979A3386.pdf&pub_id=287345

الاتاحة: https://eprints.ncl.ac.uk/287345

المؤلفون: Nolden KA, Egner JM, Collier JJ, Russell OM, Alston CL, Harwig MC, Widlansky ME, Sasorith S, Barbosa IA, Douglas AG, Baptista J, Walker M, Donnelly DE, Morris AA, Tan HJ, Kurian MA, Gorman K, Mordekar S, Deshpande C, Samanta R, McFarland R, Hill RB, Taylor RW, Olahova M

المصدر: Life Science Alliance, 1 December 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/284574; https://eprints.ncl.ac.uk/fulltext.aspx?url=284574/B3962751-8261-4719-BE4C-A3F67E579665.pdf&pub_id=284574

الاتاحة: https://eprints.ncl.ac.uk/284574

المؤلفون: Nolden, K.A., Egner, J.M., Collier, J.J., Russell, O.M., Alston, C.L., Harwig, M.C., Widlansky, M.E., Sasorith, S., Barbosa, I.A., Douglas, A.G.L., Baptista, J., Walker, M., Donnelly, D.E., Morris, A.A., Tan, H.J., Kurian, M.A., Gorman, K., Mordekar, S., Deshpande, C., Samanta, R., McFarland, R., Hill, R.B., Taylor, R.W., Oláhová, M.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/191428/1/e202101284.full.pdf; Nolden, K.A., Egner, J.M., Collier, J.J. et al. (21 more authors) (2022) Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms. Life Science Alliance, 5 (12). ARTN e202101284.

الاتاحة: https://eprints.whiterose.ac.uk/191428/
https://eprints.whiterose.ac.uk/191428/1/e202101284.full.pdf

المؤلفون: Cooles, F., Vidal-Pedrola, G., Naamane, N., Pratt, A., Barron-Millar, B., Anderson, A., Hilkens, C., Casement, J., Bondet, V., Duffy, D., Zhang, F., Shukla, R., Isaacs, J., Little, M., Payne, M., Coupe, N., Fairfax, B., Taylor, C. A., Mackay, S., Milotay, G., Bos, S., Hunter, B., McDonald, D., Merces, G., Sheldon, G., Pradère, P., Majo, J., Pulle, J., Vanstapel, A., Vanaudenaerde, B. M., Vos, R., Filby, A. J., Fisher, A. J., Collier, J., Lambton, J., Suomi, F., Prigent, M., Guissart, C., Erskine, D., Rozanska, A., McCorvie, T., Trimouille, A., Imam, A., Hobson, E., McCullagh, H., Frengen, E., Misceo, D., Bjerre, A., Smeland, M., Klingenberg, C., Alkuraya, F., McFarland, R., Alston, C., Yue, W., Legouis, R., Koenig, M., Lako, M., McWilliams, T., Oláhová, M., Taylor, R., Newman, W., Harkness, R., McDermott, J., Metcalfe, K., Khan, N., Macken, W., Pitceathly, R., Record, C., Maroofian, R., Sabir, A., Santra, S., Urquhart, J., Demain, L., Byers, H., Beaman, G., Durmusalioglu, E., Atik, T., Isik, E., Cogulu, O., Reunert, J., Marquardt, T., Ryba, L., Buchert-Lo, R., Haack, T., Lassuthova, P., Polavarapu, K., Lochmuller, H., Horvath, R., Jamieson, P., Reilly, M., O'Keefe, R., Boggan, R., Ng, Y. S., Franklin, I., Blakely, E., Büchner, B., Bugiardini, E., Colclough, K., Feeney, C., Hanna, M., Hattersley, A., Klopstock, T., Kornblum, C., Mancuso, M., Patel, K., Pizzamiglio, C., Prokisch, H., Schäfer, J., Schaefer, A., Shepherd, M., Thaele, A., Thomas, R., Turnbull, D., Gorman, G., Woodward, C., Cordell, H., Pickett, S., Tsilifis, C., Pearce, M., Gennery, A., Daly, A., Darlay, R., Zatorska, M., Worthington, S., Anstee, Q., Reeves, H., Nizami, S., Mauricio-Muir, J., McCain, M., Singh, R., Wordsworth, J., Kadharusman, M., Watson, R., Masson, S., McPherson, S., Burt, A., Tiniakos, D., Littler, P., Nsengimana, J., Zhang, S., Mann, D., Jamieson, D., Leslie, J., Wilson, C., Betts, J., Croall, I., Hoggard, N., Bennett, J., Hollingsworth, K. G., Pratt, A. G., Egail, M., Di Leo, V., Taylor, R. W., Dodds, R., Anderson, A. E., Sayer, A. A., Isaacs, J. D., McCracken, C., Condurache, D. G., Szabo, L., Elghazaly, H., Walter, F., Meade, A., Chakraverty, R., Harvey, N., Manisty, C., Petersen, S., Neubauer, S., Raisi-Estabragh, Z., Allen, L., Taylor, P., Carlsson, A., Hagopian, W., Hedlund, E., Hill, A., Jones, A., Ludvigsson, J., Onengut-Gumuscu, S., Redondo, M., Rich, S., Gillespie, K., Dayan, C., Oram, R., Resteu, A., Wonders, K., Schattenberg, J., Straub, B., Ekstedt, M., Berzigotti, A., Geier, A., Francque, S., Driessen, A., Boursier, J., Yki-Jarvinen, H., Arola, J., Aithal, G., Holleboom, A., Verheij, J., Yunis, C., Trylesinski, A., Papatheodoridis, G., Petta, S., Romero-Gomez, M., Bugianesi, E., Paradis, V., Ratziu, V., Burton, J., Ciminata, G., Geue, C., Quinn, T., Glover, E., Morais, M., Reynolds, G., Denby, L., Ali, S., Lennon, R., Sheerin, N., Yang, F., Zounemat-Kermani, N., Dixey, P., Adcock, I. M., Bloom, C. I., Chung, K. F., Govaere, O., Hasoon, M., Alexander, L., Cockell, S., Schattenberg, J. M., Daly, A. K., Anstee, Q. M.

المساهمون: Exeter Genomics Laboratory, Colclough, Kevin, Hill, Anita, Jones, Angus, Oram, Richard

Relation: QJM : monthly journal of the Association of Physicians; https://hdl.handle.net/11287/623377

الاتاحة: https://hdl.handle.net/11287/623377
https://doi.org/10.1093/qjmed/hcae157

المؤلفون: Olahova M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stranecky V, Hartmannova H, Bleyer AJ, McBride KL, Bowden SA, Korandova Z, Pecinova A, Ropers H-H, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Ounap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mracek T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW

المصدر: Nature Communications, December 2021

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/273635; https://eprints.ncl.ac.uk/fulltext.aspx?url=273635/F8EC0CA8-CCAB-420B-BE86-43629CF61A76.pdf&pub_id=273635

الاتاحة: https://eprints.ncl.ac.uk/273635

المؤلفون: Collier, JJ, Guissart, C, Oláhová, M, Sasorith, S, Piron-Prunier, F, Suomi, F, Zhang, D, Martinez-Lopez, N, Leboucq, N, Bahr, A, Azzarello-Burri, S, Reich, S, Schöls, L, Polvikoski, TM, Meyer, P, Larrieu, L, Schaefer, AM, Alsaif, HS, Alyamani, S, Zuchner, S, Barbosa, IA, Deshpande, C, Pyle, A, Rauch, A, Synofzik, M, Alkuraya, FS, Rivier, F, Ryten, M, McFarland, R, Delahodde, A, McWilliams, TG, Koenig, M, Taylor, RW

المصدر: New England Journal of Medicine , 384 (25) pp. 2406-2417. (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10130931/1/nejmoa1915722.pdf; https://discovery.ucl.ac.uk/id/eprint/10130931/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10130931/1/nejmoa1915722.pdf
https://discovery.ucl.ac.uk/id/eprint/10130931/

المؤلفون: Alahmad A, Nasca A, Heidler J, Thompson K, Olahova M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardissone A, Alston CL, McFarland R, Wittig I, Ghezzi D, Taylor RW

المصدر: EMBO Molecular Medicine, 6 November 2020

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/271167; https://eprints.ncl.ac.uk/fulltext.aspx?url=271167/9EB56214-95A4-43B1-8CF5-D38DC4F4AC39.pdf&pub_id=271167

الاتاحة: https://eprints.ncl.ac.uk/271167

المؤلفون: Lim AZ, McMacken G, Rastelli F, Olahova M, Baty K, Hopton S, Falkous G, Topf A, Lochmuller H, Marini-Bettolo C, McFarland R, Taylor RW

المصدر: Neuromuscular Disorders, 2020

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/268271; https://eprints.ncl.ac.uk/fulltext.aspx?url=268271/E61A9B1F-F027-4AB0-838B-C334D3EFA68F.pdf&pub_id=268271

الاتاحة: https://eprints.ncl.ac.uk/268271

المؤلفون: Alahmad A., Nasca A., Heidler J., Thompson K., Olahova M., Legati A., Lamantea E., Meisterknecht J., Spagnolo M., He L., Alameer S., Hakami F., Almehdar A., Ardissone A., Alston C. L., McFarland R., Wittig I., Ghezzi D., Taylor R. W.

المساهمون: A. Alahmad, A. Nasca, J. Heidler, K. Thompson, M. Olahova, A. Legati, E. Lamantea, J. Meisterknecht, M. Spagnolo, L. He, S. Alameer, F. Hakami, A. Almehdar, A. Ardissone, C.L. Alston, R. Mcfarland, I. Wittig, D. Ghezzi, R.W. Taylor

مصطلحات موضوعية: complex I, Leigh syndrome, mitochondrial disease, NDUFC2, OXPHOS, Allele, Child, Electron Transport Complex I, Human, Mitochondrial Protein, Mutation, Leigh Disease, Mitochondrial Diseases, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/32969598; info:eu-repo/semantics/altIdentifier/wos/WOS:000572144600001; volume:12; issue:11; firstpage:1; lastpage:14; numberofpages:14; journal:EMBO MOLECULAR MEDICINE; http://hdl.handle.net/2434/902732; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85091370813

الاتاحة: http://hdl.handle.net/2434/902732
https://doi.org/10.15252/emmm.202012619

المؤلفون: Olahova M, Berti CC, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, Goffrini P, Taylor RW, Sayer JA

المصدر: Human Molecular Genetics, 15 November 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/262901; https://eprints.ncl.ac.uk/fulltext.aspx?url=262901/965C1A02-778B-4BAB-89F7-6AA8539402E5.pdf&pub_id=262901

الاتاحة: https://eprints.ncl.ac.uk/262901

المؤلفون: Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmuller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R

المصدر: Genetics in Medicine, 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/257310; https://eprints.ncl.ac.uk/fulltext.aspx?url=257310/416F2F2F-414A-4946-9042-E8D8630E0902.pdf&pub_id=257310

الاتاحة: https://eprints.ncl.ac.uk/257310

المؤلفون: Sommerville EW, Zhou X-L, Olahova M, Jenkins J, Euro L, Konovalova S, Hilander T, Pyle A, He L, Habeebu S, Saunders C, Kelsey A, Morris AAM, McFarland R, Suomalainen A, Gorman GS, Wang E-D, Thiffault I, Tyynismaa H, Taylor RW

المصدر: Human Molecular Genetics, 15 January 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/254163; https://eprints.ncl.ac.uk/fulltext.aspx?url=254163/09FDA830-FFB4-4728-8533-544DE4996A23.pdf&pub_id=254163

الاتاحة: https://eprints.ncl.ac.uk/254163

المؤلفون: Sommerville, EW, Zhou, X-L, Oláhová, M, Jenkins, J, Euro, L, Konovalova, S, Hilander, T, Pyle, A, He, L, Habeebu, S, Saunders, C, Kelsey, A, Morris, AAM, McFarland, R, Suomalainen, A, Gorman, GS, Wang, E-D, Thiffault, I, Tyynismaa, H, Taylor, RW

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/110264/15/ddy294.pdf; https://openaccess.sgul.ac.uk/id/eprint/110264/10/Instability%20of%20the%20mitocondrial%20alanyl-tRNA%20synthetase.pdf; Sommerville, EW; Zhou, X-L; Oláhová, M; Jenkins, J; Euro, L; Konovalova, S; Hilander, T; Pyle, A; He, L; Habeebu, S; et al. Sommerville, EW; Zhou, X-L; Oláhová, M; Jenkins, J; Euro, L; Konovalova, S; Hilander, T; Pyle, A; He, L; Habeebu, S; Saunders, C; Kelsey, A; Morris, AAM; McFarland, R; Suomalainen, A; Gorman, GS; Wang, E-D; Thiffault, I; Tyynismaa, H; Taylor, RW (2019) Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy. Hum Mol Genet, 28 (2). pp. 258-268. ISSN 1460-2083 https://doi.org/10.1093/hmg/ddy294 SGUL Authors: Hilander, Taru

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/110264/
https://openaccess.sgul.ac.uk/id/eprint/110264/15/ddy294.pdf
https://openaccess.sgul.ac.uk/id/eprint/110264/10/Instability%20of%20the%20mitocondrial%20alanyl-tRNA%20synthetase.pdf

المؤلفون: Boczonadi, V., King, M.S., Smith, A.C., Olahova, M., Bansagi, B., Roos, A., Eyassu, F., Borchers, C., Ramesh, V., Lochmüller, H., Polvikoski, T., Whittaker, R.G., Pyle, A., Griffin, H., Taylor, R.W., Chinnery, P.F., Robinson, A.J., Kunji, E.R.S., Horvath, R.

المصدر: Genetics in Medicine ; volume 21, issue 9, page 2163-2164 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1038/s41436-019-0506-1
http://www.nature.com/articles/s41436-019-0506-1.pdf
http://www.nature.com/articles/s41436-019-0506-1
https://api.elsevier.com/content/article/PII:S1098360021050176?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021050176?httpAccept=text/plain

المؤلفون: Xu Z, Lo W-S, Beck DB, Schuch L, Olahova M, Kopajtich R, Chong YE, Alston CL, Seidl E, Zhai L, Lau C-F, Timchak D, LeDuc CA, Borczuk AC, Teich AF, Juusola J, Sofeso C, Muller C, Pierre G, Hilliard T, Turnpenny PD, Wagner M, Kappler M, Brasch F, Bouffard JP, Nangle LA, Yang X-L, Zhang M, Taylor RW, Prokisch H, Griese M, Chung WK, Schimmel P

المصدر: American Journal of Human Genetics, 2018

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/249654; https://eprints.ncl.ac.uk/fulltext.aspx?url=249654/88D3D780-7130-4C35-A9F4-661B04A57D9F.pdf&pub_id=249654

الاتاحة: https://eprints.ncl.ac.uk/249654

المؤلفون: Thompson, K, Mai, N, Olahova, M, Scialo, F, Formosa, LE, Stroud, DA, Garrett, M, Lax, NZ, Robertson, FM, Jou, C, Nascimento, A, Ortez, C, Jimenez-Mallebrera, C, Hardy, SA, He, L, Brown, GK, Marttinen, P, McFarland, R, Sanz, A, Battersby, BJ, Bonnen, PE, Ryan, MT, Chrzanowska-Lightowlers, ZMA, Lightowlers, RN, Taylor, RW

Relation: NHMRC/1140851; NHMRC/1140906; pii: emmm.201809060; Thompson, K., Mai, N., Olahova, M., Scialo, F., Formosa, L. E., Stroud, D. A., Garrett, M., Lax, N. Z., Robertson, F. M., Jou, C., Nascimento, A., Ortez, C., Jimenez-Mallebrera, C., Hardy, S. A., He, L., Brown, G. K., Marttinen, P., McFarland, R., Sanz, A. ,. Taylor, R. W. (2018). OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. EMBO MOLECULAR MEDICINE, 10 (11), https://doi.org/10.15252/emmm.201809060.; http://hdl.handle.net/11343/248264

الاتاحة: http://hdl.handle.net/11343/248264