المؤلفون: Taylor RW, Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Thorburn DR

المصدر: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference, 29-30 March 2011

Relation: https://eprints.ncl.ac.uk/175129

الاتاحة: https://eprints.ncl.ac.uk/175129

المؤلفون: McFarland R, Taylor RW, Turnbull DM, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Thorburn DR

المصدر: American Journal of Human Genetics: Annual Meeting of the American Society of Human Genetics, 4-8 November 2003

Relation: https://eprints.ncl.ac.uk/96696

الاتاحة: https://eprints.ncl.ac.uk/96696

المؤلفون: Dahl, HHM, Hutchison, WM, Dasvarma, A, Reed, K, Kirby, DM, Boneh, A, Christodoulou, J, Freckmann, ML, Wilcken, B, McGill, JJ, Fletcher, JL, Van Hove, Johan, Thorburn, DR

Relation: American Journal of Human Genetics vol:67 issue:4 pages:64-64; 0 date:0; https://lirias.kuleuven.be/handle/123456789/100033

الاتاحة: https://lirias.kuleuven.be/handle/123456789/100033

المؤلفون: Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke X, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR

المصدر: European Journal of Human Genetics, 01-07-2011

Relation: https://eprints.ncl.ac.uk/176616

الاتاحة: https://eprints.ncl.ac.uk/176616

المؤلفون: Abramov AY, Smulders-Srinivasan TK, Kirby DM, Acin-Perez R, Enriquez JA, Lightowlers RN, Duchen MR, Turnbull DM

المصدر: Brain, 01-03-2010

Relation: https://eprints.ncl.ac.uk/155261

الاتاحة: https://eprints.ncl.ac.uk/155261

المؤلفون: Trevelyan AJ, Kirby DM, Smulders-Srinivasan TK, Nooteboom M, Acin-Perez R, Enriquez JA, Whittington MA, Lightowlers RN, Turnbull DM

المصدر: Brain, 01-03-2010

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/155260; https://eprints.ncl.ac.uk/fulltext.aspx?url=155260/1AD9FE9F-B123-4B38-A958-E5F4595D3F2D.pdf&pub_id=155260

الاتاحة: https://eprints.ncl.ac.uk/155260

المؤلفون: Calvo, SE, Tucker, EJ, Compton, AG, Kirby, DM, Crawford, G, Burtt, NP, Rivas, M, Guiducci, C, Bruno, DL, Goldberger, OA, Redman, MC, Wiltshire, E, Wilson, CJ, Altshuler, D, Gabriel, SB, Daly, MJ, Thorburn, DR, Mootha, VK

Relation: pii: ng.659; Calvo, S. E., Tucker, E. J., Compton, A. G., Kirby, D. M., Crawford, G., Burtt, N. P., Rivas, M., Guiducci, C., Bruno, D. L., Goldberger, O. A., Redman, M. C., Wiltshire, E., Wilson, C. J., Altshuler, D., Gabriel, S. B., Daly, M. J., Thorburn, D. R. & Mootha, V. K. (2010). High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. NATURE GENETICS, 42 (10), pp.851-+. https://doi.org/10.1038/ng.659.; http://hdl.handle.net/11343/268557

الاتاحة: http://hdl.handle.net/11343/268557

المؤلفون: Kirby DM, Rennie KJ, Smulders-Srinivasan TK, Acin-Perez R, Whittington M, Enriquez JA, Trevelyan AJ, Turnbull DM, Lightowlers RN

المصدر: Cell Proliferation, 23-06-2009

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/149468; https://eprints.ncl.ac.uk/fulltext.aspx?url=149468/D5E8F4C6-E5CB-49CD-B51D-6DC1665BA614.pdf&pub_id=149468

الاتاحة: https://eprints.ncl.ac.uk/149468

المؤلفون: Wilcox, RA, Churchyard, A, Dahl, HH, Hutchison, WM, Kirby, DM, Thyagarajan, D

مصطلحات موضوعية: Clinical Neurology, mitochondrial disease, Parkinson's disease, parkinsonism, chronic progressive external ophthalmoplegia, neuropathy, Substantia-nigra Neurons, Disease, Features, Gene

الاتاحة: https://espace.library.uq.edu.au/view/UQ:128995

المؤلفون: Taylor RW, Swalwell H, Kirby DM, Boneh A, McFarland R, Salemi R, Sugiana C, Worgan L, Mitchell AL, Thorburn DR

المصدر: Journal of Inherited Metabolic Disease, 01-08-2006

Relation: https://eprints.ncl.ac.uk/87401

الاتاحة: https://eprints.ncl.ac.uk/87401

المؤلفون: Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl H-HM, Ryan MT, Thorburn DR

المصدر: Journal of Clinical Investigation, 15-09-2004

Relation: https://eprints.ncl.ac.uk/69653

الاتاحة: https://eprints.ncl.ac.uk/69653

المؤلفون: Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW

المصدر: Journal of Medical Genetics, 01-10-2004

Relation: https://eprints.ncl.ac.uk/69102

الاتاحة: https://eprints.ncl.ac.uk/69102

المؤلفون: Sugiana, C, Pagliarini, DJ, McKenzie, M, Kirby, DM, Salemi, R, Abu-Amero, KK, Dahl, HH, Hutchison, WM, Vascotto, KA, Newbold, RF

مصطلحات موضوعية: Computational Biology/methods, DNA Mutational Analysis, Electron Transport Complex I/metabolism, Female, Genetic Markers, Homozygote, Humans, Intracellular Membranes/metabolism, Male, Methyltransferases/*genetics/physiology, Mitochondrial Diseases/*genetics, Models, genetic, Mutation, Missense

وصف الملف: 842174 bytes; application/pdf

Relation: American Journal of Human Genetics. 83 (4) 468-478; http://bura.brunel.ac.uk/handle/2438/3131

الاتاحة: http://bura.brunel.ac.uk/handle/2438/3131

المؤلفون: Hui J (AUTHOR), Kirby DM (AUTHOR), Thorburn DR (AUTHOR), Boneh A (AUTHOR)

المصدر: Developmental Medicine & Child Neurology. Feb2006, Vol. 48 Issue 2, p132-136. 5p.

المؤلفون: Kirby DM, Crawford M, Cleary MA, Dahl HM, Dennett X, Thorburn DR, Kirby, D M, Crawford, M, Cleary, M A, Dahl, H H, Dennett, X, Thorburn, D R

المصدر: Neurology; 1999 Apr 12, Vol. 52 Issue 6, p1255-1264, 10p

المؤلفون: Kirby DM, Thorburn DR, Turnbull DM, Taylor RW

المصدر: Methods in Cell Biology, 2007

Relation: https://eprints.ncl.ac.uk/75998

الاتاحة: https://eprints.ncl.ac.uk/75998