المؤلفون: Ng YS, Thompson K, Loher D, Hopton S, Falkous G, Hardy SA, Schaefer AM, Shaunak S, Roberts ME, Lilleker JB, Taylor RW

المصدر: Frontiers in Genetics, 25 February 2020

وصف الملف: application/pdf

الإتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=265674/6228738C-C16B-4D61-8E70-1D38B37C87CC.pdf&pub_id=265674Test

المؤلفون: Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW

المصدر: American Journal of Human Genetics, 2 January 2020

وصف الملف: application/pdf

الإتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=262659/73FED7AC-8A11-49C1-AF01-40D5E0F2CE44.pdf&pub_id=262659Test

المؤلفون: Smith, AL, Whitehall, JC, Bradshaw, C, Gay, D, Robertson, F, Blain, AP, Hudson, G, Pyle, A, Houghton, D, Hunt, M, Sampson, JN, Stamp, C, Mallett, G, Amarnath, S, Leslie, J, Oakley, F, Wilson, L, Baker, A, Russell, OM, Johnson, R, Richardson, CA, Gupta, B, McCallum, I, McDonald, SA, Kelly, S, Mathers, JC, Heer, R, Taylor, RW, Perkins, ND, Turnbull, DM, Sansom, OJ, Greaves, LC

وصف الملف: 976 - 989

العلاقة: Nat Cancer; https://qmro.qmul.ac.uk/xmlui/handle/123456789/67511Test

الإتاحة: https://doi.org/10.1038/s43018-020-00112-5Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/67511Test

المؤلفون: Elson, JL, Cadogan, M, Apabhai, S, Whittaker, RG, Phillips, A, Trennell, MI, Horvath, R, Taylor, RW, McFarland, R, McColl, E, Turnbull, DM, Gorman, GS

مصطلحات موضوعية: Adult, Factor Analysis, Statistical, Female, Health Status, Humans, Male, Middle Aged, Mitochondrial Diseases, Psychometrics, Quality of Life, Reproducibility of Results, Surveys and Questionnaires, Young Adult

وصف الملف: Print-Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/309897Test

الإتاحة: https://doi.org/10.17863/CAM.56997Test
https://www.repository.cam.ac.uk/handle/1810/309897Test

المؤلفون: Wedatilake, Y, Brown, RM, McFarland, R, Yaplito-Lee, J, Morris, AAM, Champion, M, Jardine, PE, Clarke, A, Thorburn, DR, Taylor, RW, Land, JM, Forrest, K, Dobbie, A, Simmons, L, Aasheim, ET, Ketteridge, D, Hanrahan, D, Chakrapani, A, Brown, GK, Rahman, S

العلاقة: pii: 1750-1172-8-96; Wedatilake, Y., Brown, R. M., McFarland, R., Yaplito-Lee, J., Morris, A. A. M., Champion, M., Jardine, P. E., Clarke, A., Thorburn, D. R., Taylor, R. W., Land, J. M., Forrest, K., Dobbie, A., Simmons, L., Aasheim, E. T., Ketteridge, D., Hanrahan, D., Chakrapani, A., Brown, G. K. & Rahman, S. (2013). SURF1 deficiency: a multi-centre natural history study. ORPHANET JOURNAL OF RARE DISEASES, 8 (1), https://doi.org/10.1186/1750-1172-8-96Test.; http://hdl.handle.net/11343/265402Test

الإتاحة: https://doi.org/10.1186/1750-1172-8-96Test
http://hdl.handle.net/11343/265402Test

المؤلفون: Uusimaa, J, Evans, J, Smith, C, Butterworth, A, Craig, K, Ashley, N, Liao, C, Carver, J, Diot, A, Macleod, L, Hargreaves, IP, Al-Hussaini, A, Faqeih, E, Asery, A, Al Balwi, M, Eyaid, W, Al-Sunaid, A, Kelly, D, van Mourik, I, Ball, S, Jarvis, J, Mulay, A, Hadzic, N, Samyn, M, Baker, A, Rahman, S, Stewart, H, Morris, AAM, Seller, A, Fratter, C, Taylor, RW, Poulton, J

مصطلحات موضوعية: QH301 Biology, QH426 Genetics, RM Therapeutics. Pharmacology

وصف الملف: text

العلاقة: https://researchonline.ljmu.ac.uk/id/eprint/13683/1/Clinical,%20biochemical,%20cellular%20and%20molecular%20characterization%20of%20mitochondrial%20DNA%20depletion%20syndrome%20due%20to%20novel%20mutation.pdfTest; Uusimaa, J, Evans, J, Smith, C, Butterworth, A, Craig, K, Ashley, N, Liao, C, Carver, J, Diot, A, Macleod, L, Hargreaves, IP, Al-Hussaini, A, Faqeih, E, Asery, A, Al Balwi, M, Eyaid, W, Al-Sunaid, A, Kelly, D, van Mourik, I, Ball, S, Jarvis, J, Mulay, A, Hadzic, N, Samyn, M, Baker, A, Rahman, S, Stewart, H, Morris, AAM, Seller, A, Fratter, C, Taylor, RW and Poulton, J (2013) Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. European Journal of Human Genetics, 22 (2). pp. 184-191. ISSN 1018-4813

الإتاحة: https://doi.org/10.1038/ejhg.2013.112Test
http://researchonline.ljmu.ac.uk/id/eprint/13683Test/
https://researchonline.ljmu.ac.uk/id/eprint/13683/1/Clinical,%20biochemical,%20cellular%20and%20molecular%20characterization%20of%20mitochondrial%20DNA%20depletion%20syndrome%20due%20to%20novel%20mutation.pdfTest

المؤلفون: Campbell, GR, Reeve, A, Ziabreva, I, Polvikoski, TM, Taylor, RW, Reynolds, R, Turnbull, DM, Mahad, DJ

المصدر: 389 ; 377

العلاقة: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY; http://hdl.handle.net/10044/1/21210Test; http://dx.doi.org/10.1111/j.1365-2990.2012.01290.xTest

الإتاحة: https://doi.org/10.1111/j.1365-2990.2012.01290.xTest
http://hdl.handle.net/10044/1/21210Test

المؤلفون: Pitceathly, RD, Smith, C, Fratter, C, Alston, CL, He, L, Craig, K, Blakely, EL, Evans, JC, Taylor, J, Shabbir, Z, Deschauer, M, Pohl, U, Roberts, ME, Jackson, MC, Halfpenny, CA, Turnpenny, PD, Lunt, PW, Hanna, MG, Schaefer, AM, McFarland, R, Horvath, R, Chinnery, PF, Turnbull, DM, Poulton, J, Taylor, RW, Gorman, GS

المصدر: Brain , 135 (11) 3392 -3403. (2012)

مصطلحات موضوعية: Adult, Aged, 80 and over, Brain diseases, Cell cycle proteins, Cohort studies, Gene deletion, Heterozygote, Humans, Middle aged, Mitochondrial myopathies, Models, Genetic, Muscle, Skeletal, Mutation, Missense, Neuromuscular Diseases, Phenotype, Ribonucleotide reductases

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1380635/1/Brain-2012-Pitceathly-3392-403.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1380635Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1380635/1/Brain-2012-Pitceathly-3392-403.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1380635Test/

المؤلفون: Alston, CL, Davison, JE, Meloni, F, van der Westhuizen, FH, He, L, Hornig-Do, H-T, Peet, AC, Gissen, P, Goffrini, P, Ferrero, I, Wassmer, E, McFarland, R, Taylor, RW

المصدر: Journal of Medical Genetics , 49 (9) 569 -577. (2012)

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1368873/1/Gissen_569.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1368873Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1368873/1/Gissen_569.full.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1368873Test/

المؤلفون: Yu-Wai-Man, P, Griffiths, PG, Gorman, GS, Lourenco, CM, Wright, AF, Auer-Grumbach, M, Toscano, A, Musumeci, O, Valentino, ML, Caporali, L, Lamperti, C, Tallaksen, CM, Duffey, P, Miller, J, Whittaker, RG, Baker, MR, Jackson, MJ, Clarke, MP, Dhillon, B, Czermin, B, Stewart, JD, Hudson, G, Reynier, P, Bonneau, D, Marques, W, Lenaers, G, McFarland, R, Taylor, RW, Turnbull, DM, Votruba, M, Zeviani, M, Carelli, V, Bindoff, LA, Horvath, R, Amati-Bonneau, P, Chinnery, PF

مصطلحات موضوعية: Adolescent, Adult, Aged, Central Nervous System Diseases, Child, Cohort Studies, DNA, Mitochondrial, Family, Female, GTP Phosphohydrolases, Heterozygote, Humans, Male, Middle Aged, Muscle, Skeletal, Mutation, Optic Atrophy, Autosomal Dominant, Phenotype, Young Adult

وصف الملف: Print-Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/290368Test

الإتاحة: https://doi.org/10.17863/CAM.37598Test
https://www.repository.cam.ac.uk/handle/1810/290368Test