المؤلفون: Tuppen, HAL, Naess, K, Kennaway, NG, Al-Dosary, M, Lesko, N, Yarham, JW, Bruhn, H, Wibom, R, Nennesmo, I, Weleber, RG, Blakely, EL, Taylor, RW, McFarland, R

المصدر: European journal of human genetics : EJHG. 20(8):897-904

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:124980413Test

المؤلفون: Alston, CL, Schaefer, AM, Raman, P, Solaroli, N, Krishnan, KJ, Blakely, EL, He, LP, Craig, K, Roberts, M, Vyas, A, Nixon, J, Horvath, R, Turnbull, DM, Karlsson, A, Gorman, GS, Taylor, RW

المصدر: Neurology. 81(23):2051-2053

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:128265295Test

المؤلفون: Ng, YS, Martikainen, M, Gorman, G, Blain, A, Bugiardini, E, Bunting, A, Schaefer, A, Alston, CL, Blakely, EL, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Chinnery, P, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, M, Pitceathly, R, Taylor, RW, Turnbull, D, McFarland, R

العلاقة: https://ora.ox.ac.uk/objects/uuid:65d43f24-a25e-4a5d-95d0-6b3be8e1104fTest; https://doi.org/10.1111/ene.14023Test

الإتاحة: https://doi.org/10.1111/ene.14023Test
https://ora.ox.ac.uk/objects/uuid:65d43f24-a25e-4a5d-95d0-6b3be8e1104fTest

المؤلفون: Baty, K, Farrugia, ME, Hopton, S, Falkous, G, Schaefer, AM, Stewart, W, Willison, HJ, Reilly, MM, Blakely, EL, Taylor, RW, Ng, YS

المصدر: Neuromuscular Disorders , 31 (11) pp. 1186-1193. (2021)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, Mitochondrial DNA, Muscle biopsy, Segregation study, MITOCHONDRIAL-DNA MUTATIONS, MYOPATHY, PATIENT

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10141624/1/1-s2.0-S0960896621001395-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10141624Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10141624/1/1-s2.0-S0960896621001395-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10141624Test/

المؤلفون: Ng, YS, Lax, NZ, Blain, AP, Erskine, D, Baker, MR, Polvikoski, T, Thomas, RH, Morris, CM, Lai, M, Whittaker, RG, Gebbels, A, Winder, A, Hall, J, Feeney, C, Farrugia, ME, Hirst, C, Roberts, M, Lawthom, C, Chrysostomou, A, Murphy, K, Baird, T, Maddison, P, Duncan, C, Poulton, J, Nesbitt, V, Hanna, MG, Pitceathly, RDS, Taylor, RW, Blakely, EL, Schaefer, AM, Turnbull, DM, McFarland, R, Gorman, GS

المصدر: Brain , Article awab353. (2021) (In press).

مصطلحات موضوعية: MELAS, mitochondrial DNA (mtDNA), neuropathology, prognostic modelling, seizures

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10141365/1/awab353.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10141365Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10141365/1/awab353.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10141365Test/

المؤلفون: Kipper, K, Hecht, M, Antunes, NJ, Fairbanks, LD, Levene, M, Kalkan Uçar, S, Schaefer, A, Blakely, EL, Bax, BE

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/111807/1/jcm-09-00788.pdfTest; Kipper, K; Hecht, M; Antunes, NJ; Fairbanks, LD; Levene, M; Kalkan Uçar, S; Schaefer, A; Blakely, EL; Bax, BE (2020) Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy. J Clin Med, 9 (3). p. 788. ISSN 2077-0383 https://doi.org/10.3390/jcm9030788Test SGUL Authors: Bax, Bridget Elizabeth

الإتاحة: https://doi.org/10.3390/jcm9030788Test
https://openaccess.sgul.ac.uk/id/eprint/111807Test/
https://openaccess.sgul.ac.uk/id/eprint/111807/1/jcm-09-00788.pdfTest

المؤلفون: Hellebrekers, D, Blakely, EL, Hendrickx, AT, Hardy, SA, Hopton, S, Falkous, G, Coo, IFM, Smeets, HJT, Beek, NAME, Taylor, RW

المصدر: Hellebrekers , D , Blakely , EL , Hendrickx , AT , Hardy , SA , Hopton , S , Falkous , G , Coo , IFM , Smeets , HJT , Beek , NAME & Taylor , RW 2019 , ' A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy ' , Neuromuscular Disorders , vol. 29 , no. 9 , pp. 693-697 . https://doi.org/10.1016/j.nmd.2019.08.005Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.nmd.2019.08.005Test
https://pure.eur.nl/en/publications/e16fe7d5-8950-4e67-88a3-534d99b442d3Test
https://pure.eur.nl/ws/files/48233211/Repub_120465_O-A.pdfTest
http://hdl.handle.net/1765/120465Test

المؤلفون: Ng, YS, Martikainen, MH, Gorman, GS, Blain, A, Bugiardini, E, Bunting, A, Schaefer, AM, Alston, CL, Blakely, EL, Sharma, S, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Roberts, M, Woodward, CE, Chinnery, PF, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, MG, Pitceathly, RDS, Taylor, RW, Turnbull, DM, McFarland, R

العلاقة: https://ora.ox.ac.uk/objects/uuid:746ec7b7-24fe-41d8-adf9-ab535744b1d1Test; https://doi.org/10.1002/ana.25525Test

الإتاحة: https://doi.org/10.1002/ana.25525Test
https://ora.ox.ac.uk/objects/uuid:746ec7b7-24fe-41d8-adf9-ab535744b1d1Test

المؤلفون: Ng, YS, Martikainen, MH, Gorman, GS, Blain, A, Bugiardini, E, Bunting, A, Schaefer, AM, Alston, CL, Blakely, EL, Sharma, S, Hughes, I, Lim, A, DeGoede, C, McEntagart, M, Spinty, S, Horrocks, I, Roberts, M, Woodward, CE, Chinnery, PF, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, MG, Pitceathly, RDS, Taylor, RW, Turnbull, DM, McFarland, R

المصدر: Annals of Neurology , 86 (2) pp. 310-315. (2019)

مصطلحات موضوعية: Leigh syndrome, ataxia, heteroplasmy, neuropathy, risk prediction

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10076270/1/Ng_et_al-2019-Annals_of_Neurology%20%282%29.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10076270Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10076270/1/Ng_et_al-2019-Annals_of_Neurology%20%282%29.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10076270Test/

المؤلفون: Ng, YS, Lax, NZ, Maddison, P, Alston, CL, Blakely, EL, Hepplewhite, PD, Riordan, G, Meldau, S, Chinnery, PF, Pierre, G, Chronopoulou, E, Du, A, Hughes, I, Morris, AA, Kamakari, S, Chrousos, G, Rodenburg, RJ, Saris, CGJ, Feeney, C, Hardy, SA, Sakakibara, T, Sudo, A, Okazaki, Y, Murayama, K, Mundy, H, Hanna, MG, Ohtake, A, Schaefer, AM, Champion, MP, Turnbull, DM, Taylor, RW, Pitceathly, RDS, McFarland, R, Gorman, GS

المصدر: EBioMedicine , 30 pp. 86-93. (2018)

مصطلحات موضوعية: Heteroplasmy, Lactic acidosis and stroke-like episodes (MELAS), Leigh syndrome (LS), Mitochondrial DNA, Mitochondrial encephalomyopathy, Neuropathology

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10045483/8/1-s2.0-S2352396418300641-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10045483Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10045483/8/1-s2.0-S2352396418300641-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10045483Test/