المؤلفون: Schober, FA, Tang, JX, Sergeant, K, Moedas, MF, Zierz, CM, Moore, D, Smith, C, Lewis, D, Guha, N, Hopton, S, Falkous, G, Lam, A, Pyle, A, Poulton, J, Gorman, GS, Taylor, RW, Freyer, C, Wredenberg, A

المصدر: Human molecular genetics. 31(12):2049-2062

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:149482986

المؤلفون: Erdinc D, Rodriguez-Luis A, Fassad MR, Mackenzie S, Watson CM, Valenzuela S, Xie X, Menger KE, Sergeant K, Craig K, Hopton S, Falkous G, Poulton J, Garcia-Moreno H, Giunti P, de Moura Aschoff CA, Morales Saute JA, Kirby AJ, Toro C, Wolfe L, Novacic D, Greenbaum L, Eliyahu A, Barel O, Anikster Y, McFarland R, Gorman GS, Schaefer AM, Gustafsson CM, Taylor RW, Falkenberg M, Nicholls TJ

المصدر: EMBO Molecular Medicine, 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/290840; https://eprints.ncl.ac.uk/fulltext.aspx?url=290840/B90E5251-827D-481E-807D-E0E7B34A3AC0.pdf&pub_id=290840

الاتاحة: https://eprints.ncl.ac.uk/290840

المؤلفون: Elwan M, Schaefer AM, Craig K, Hopton S, Falkous G, Blakely EL, Taylor RW, Warren N

المصدر: BMJ Neurology Open, 8 December 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/288420; https://eprints.ncl.ac.uk/fulltext.aspx?url=288420/3C9F2390-DAC8-4536-A6C7-ABED19C79AD1.pdf&pub_id=288420

الاتاحة: https://eprints.ncl.ac.uk/288420

المؤلفون: Abouhajar A, Alcock L, Bigirumurame T, Bradley P, Brown L, Campbell I, Del Din S, Faitg J, Falkous G, Gorman GS, Lakey R, McFarland R, Newman J, Rochester L, Ryan V, Smith H, Steel A, Stefanetti RJ, Su H, Taylor RW, Thomas NJP, Tuppen H, Vincent AE, Warren C, Watson G

المصدر: Trials, 20 September 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/286733; https://eprints.ncl.ac.uk/fulltext.aspx?url=286733/ABC85718-3AA8-4E5A-89CF-7C2CF227A6A5.pdf&pub_id=286733

الاتاحة: https://eprints.ncl.ac.uk/286733

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10141624/1/1-s2.0-S0960896621001395-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10141624/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10141624/1/1-s2.0-S0960896621001395-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10141624/

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: Joshi PR, Baty K, Hopton S, Cordts I, Falkous G, Schoser B, Blakely EL, Taylor RW, Deschauer M

المصدر: Neuromuscular Disorders, 2020

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/266100; https://eprints.ncl.ac.uk/fulltext.aspx?url=266100/708FD274-E505-4C10-A41A-A32F7F9AC595.pdf&pub_id=266100

الاتاحة: https://eprints.ncl.ac.uk/266100

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

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

الاتاحة: https://eprints.ncl.ac.uk/265674

المؤلفون: Sithamparanathan S, Rocha MC, Parikh JD, Rygiel KA, Falkous G, Grady JP, Hollingsworth KG, Trenell MI, Taylor RW, Turnbull DM, Gorman GS, Corris PA

المصدر: Pulmonary Circulation, 1 April 2018

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/250192; https://eprints.ncl.ac.uk/fulltext.aspx?url=250192/02BE96F6-94CD-4714-8284-D306EE76D5C3.pdf&pub_id=250192

الاتاحة: https://eprints.ncl.ac.uk/250192

المؤلفون: Sommerville EW, Dalla Rosa I, Rosenberg MM, Bruni F, Thompson K, Rocha M, Blakely EL, He L, Falkous G, Schaefer AM, Yu-Wai-Man P, Chinnery PF, Hedstrom L, Spinazzola A, Taylor RW, Gorman GS

المصدر: Clinical Genetics, 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/263275; https://eprints.ncl.ac.uk/fulltext.aspx?url=263275/EBD5AC35-8851-4057-A124-81AE61C6830E.pdf&pub_id=263275

الاتاحة: https://eprints.ncl.ac.uk/263275

المؤلفون: Hellebrekers DMEI, Blakely EL, Hendrickx ATM, Hardy SA, Hopton S, Falkous G, de Coo IFM, Smeets HJM, van der Beek NME, Taylor RW

المصدر: Neuromuscular Disorders, September 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/260131; https://eprints.ncl.ac.uk/fulltext.aspx?url=260131/3AB2BBBE-49F1-49A4-932D-C2F02867E313.pdf&pub_id=260131

الاتاحة: https://eprints.ncl.ac.uk/260131

المؤلفون: Lim AZ, Blakely EL, Baty K, He L, Hopton S, Falkous G, McWilliam K, Cozens A, McFarland R, Taylor RW

المصدر: Mitochondrion, July 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/257028; https://eprints.ncl.ac.uk/fulltext.aspx?url=257028/0A13F5C5-D513-49D7-895B-4A9BC2F91406.pdf&pub_id=257028

الاتاحة: https://eprints.ncl.ac.uk/257028

المؤلفون: Perli E, Pisano A, Glasgow RIC, Carbo M, Hardy SA, Falkous G, He L, Cerbelli B, Pignataro MG, Zacara E, Re F, Della Monica PL, Morea V, Bonnen PE, Taylor RW, d'Amati G, Giordano C

المصدر: Scientific Reports, 1 December 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/256455; https://eprints.ncl.ac.uk/fulltext.aspx?url=256455/6083EBC4-B147-4410-AC93-A9EB4CA1D568.pdf&pub_id=256455

الاتاحة: https://eprints.ncl.ac.uk/256455

المؤلفون: Hellebrekers, D., Blakely, E.L., Hendrickx, A.T., Hardy, S.A., Hopton, S., Falkous, G., de Coo, I.F., Smeets, H.J.T. (Hubert J.), van der Beek, N.M.E., Taylor, R.W. (Robert William)

المصدر: Neuromuscular Disorders vol. 29 no. 9, pp. 693-697

مصطلحات موضوعية: Mitochondrial disease, Chronic progressive external ophthalmoplegia, Myopathy, mtDNA variant, m.4414T>C, MTTM

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/120465; urn:hdl:1765/120465

الاتاحة: http://repub.eur.nl/pub/120465
https://doi.org/10.1016/j.nmd.2019.08.005

المؤلفون: Vincent, AE, White, K, Davey, T, Philips, J, Ogden, RT, Lawess, C, Warren, C, Hall, MG, Ng, YS, Falkous, G, Holden, T, Deehan, D, Taylor, RW, Turnbull, DM, Picard, M

المصدر: Cell Reports , 26 (4) 996-1009.e4. (2019)

مصطلحات موضوعية: serial block-face SEM, reconstruction, mitochondrial disease, skeletal muscle, 3D morphometry, machine learning, mitochondrion, nanotunnel, reticulum, imaging

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10069421/1/1-s2.0-S221112471930018X-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10069421/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10069421/1/1-s2.0-S221112471930018X-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10069421/

المؤلفون: Handley, MT, Reddy, K, Wills, J, Rosser, E, Kamath, A, Halachev, M, Falkous, G, Williams, D, Cox, P, Meynert, A, Raymond, ES, Morrison, H, Brown, S, Allan, E, Aligianis, I, Jackson, AP, Ramsahoye, BH, von Kriegsheim, A, Taylor, RW, Finch, AJ, FitzPatrick, DR

مصطلحات موضوعية: Animals, Base Sequence, Cardiomyopathy, Dilated, Cataract, Child, Preschool, DNA Mutational Analysis, DNA, Mitochondrial, Female, Homozygote, Humans, Hypogonadism, Inosine, Intellectual Disability, Male, Metabolism, Inborn Errors, Mice, Knockout, Mouse Embryonic Stem Cells, Mutation, Pedigree, Pyrophosphatases, RNA, Whole Exome Sequencing

وصف الملف: e1007605 - ?

Relation: PLoS Genet; https://qmro.qmul.ac.uk/xmlui/handle/123456789/70957

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/70957
https://doi.org/10.1371/journal.pgen.1007605

المؤلفون: Zierz, C.M., Baty, K., Blakely, E.L., Hopton, S., Falkous, G., Schaefer, A.M., Hadjivassiliou, M., Sarrigiannis, P.G., Ng, Y.S., Taylor, R.W.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/147500/1/jcm-08-00789.pdf; Zierz, C.M., Baty, K., Blakely, E.L. et al. (7 more authors) (2019) A novel pathogenic variant in MT-CO2 causes an isolated mitochondrial complex IV deficiency and late-onset cerebellar ataxia. Journal of Clinical Medicine, 8 (6). 789. ISSN 2077-0383

الاتاحة: https://eprints.whiterose.ac.uk/147500/
https://eprints.whiterose.ac.uk/147500/1/jcm-08-00789.pdf

المؤلفون: Ahmed ST, Alston CL, Hopton S, He L, Hargreaves IP, Falkous G, Olahova M, McFarland R, Turnbull DM, Rocha MC, Taylor RW

المصدر: Scientific Reports, 1 December 2017

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/243708; https://eprints.ncl.ac.uk/fulltext.aspx?url=243708/C49956EB-247E-44B0-9AE5-49AAF6A6359D.pdf&pub_id=243708

الاتاحة: https://eprints.ncl.ac.uk/243708

المؤلفون: Ahmed, ST, Alston, CL, Hopton, S, He, L, Hargreaves, IP, Falkous, G, Olahova, M, McFarland, R, Turnbull, DM, Rocha, MC, Taylor, RW

مصطلحات موضوعية: RM Therapeutics. Pharmacology

وصف الملف: text

Relation: https://researchonline.ljmu.ac.uk/id/eprint/9383/1/Using%20a%20quantitative%20quadruple%20immunofluorescent%20assay%20to%20diagnose%20isolated%20mitochondrial%20Complex%20I%20deficiency.pdf; Ahmed, ST, Alston, CL, Hopton, S, He, L, Hargreaves, IP, Falkous, G, Olahova, M, McFarland, R, Turnbull, DM, Rocha, MC and Taylor, RW (2017) Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. Scientific Reports, 7. ISSN 2045-2322

الاتاحة: http://researchonline.ljmu.ac.uk/id/eprint/9383/
https://researchonline.ljmu.ac.uk/id/eprint/9383/1/Using%20a%20quantitative%20quadruple%20immunofluorescent%20assay%20to%20diagnose%20isolated%20mitochondrial%20Complex%20I%20deficiency.pdf
https://doi.org/10.1038/s41598-017-14623-2

المؤلفون: Sommerville, E.W., Ng, Y.S., Alston, C.L., Dallabona, C., Gilberti, M., He, L., Knowles, C., Chin, S.L., Schaefer, A.M., Falkous, G., Murdoch, D., Longman, C., de Visser, M., Bindoff, L.A., Rawles, J.M., Dean, J.C., Petty, R.K., Farrugia, M.E., Haack, T.B., Prokisch, H., McFarland, R., Turnbull, D.M., Donnini, C., Taylor, R.W., Gorman, G.S.

المصدر: JAMA Neurol. 74, 686-694 (2017)

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/28395030; info:eu-repo/semantics/altIdentifier/wos/WOS:000403204100012; info:eu-repo/semantics/altIdentifier/isbn/2168-6149; info:eu-repo/semanti; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50913; urn:isbn:2168-6149; urn:issn:2168-6149; urn:issn:2168-6157

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50913
https://doi.org/10.1001/jamaneurol.2016.4357