المؤلفون: Töpf, A, Cox, D, Zaharieva, IT, Di Leo, V, Sarparanta, J, Jonson, PH, Sealy, IM, Smolnikov, A, White, RJ, Vihola, A, Savarese, M, Merteroglu, M, Wali, N, Laricchia, KM, Venturini, C, Vroling, B, Stenton, SL, Cummings, BB, Harris, E, Marini-Bettolo, C, Diaz-Manera, J, Henderson, M, Barresi, R, Duff, J, England, EM, Patrick, J, Al-Husayni, S, Biancalana, V, Beggs, AH, Bodi, I, Bommireddipalli, S, Bönnemann, CG, Cairns, A, Chiew, M-T, Claeys, KG, Cooper, ST, Davis, MR, Donkervoort, S, Erasmus, CE, Fassad, MR, Genetti, CA, Grosmann, C, Jungbluth, H, Kamsteeg, E-J, Lornage, X, Löscher, WN, Malfatti, E, Manzur, A, Martí, P, Mongini, TE, Muelas, N, Nishikawa, A, O'Donnell-Luria, A, Ogonuki, N, O'Grady, GL, O'Heir, E, Paquay, S, Phadke, R, Pletcher, BA, Romero, NB, Schouten, M, Shah, S, Smuts, I, Sznajer, Y, Tasca, G, Taylor, RW, Tuite, A, Van den Bergh, P, VanNoy, G, Voermans, NC, Wanschitz, JV, Wraige, E, Yoshimura, K, Oates, EC, Nakagawa, O, Nishino, I, Laporte, J, Vilchez, JJ, MacArthur, DG, Sarkozy, A, Cordell, HJ, Udd, B, Busch-Nentwich, EM, Muntoni, F, Straub, V

مصطلحات موضوعية: Animals, Humans, Male, Connectin, Muscle, Skeletal, Muscular Diseases, Mutation, Zebrafish

وصف الملف: 395 - 407

العلاقة: Nat Genet; Töpf, A., Cox, D., Zaharieva, I.T. et al. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet 56, 395–407 (2024). https://doi.org/10.1038/s41588-023-01651-0Test; https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240Test

الإتاحة: https://doi.org/10.1038/s41588-023-01651-0Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240Test

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 - ?

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

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

المؤلفون: Maas, RR, Iwanicka-Pronicka, K, Kalkan Ucar, S, Alhaddad, B, AlSayed, M, Al-Owain, MA, Al-Zaidan, HI, Balasubramaniam, S, Barić, I, Bubshait, DK, Burlina, A, Christodoulou, J, Chung, WK, Colombo, R, Darin, N, Freisinger, P, Garcia Silva, MT, Grunewald, S, Haack, TB, van Hasselt, PM, Hikmat, O, Hörster, F, Isohanni, P, Ramzan, K, Kovacs-Nagy, R, Krumina, Z, Martin-Hernandez, E, Mayr, JA, McClean, P, De Meirleir, L, Naess, K, Ngu, LH, Pajdowska, M, Rahman, S, Riordan, G, Riley, L, Roeben, B, Rutsch, F, Santer, R, Schiff, M, Seders, M, Sequeira, S, Sperl, W, Staufner, C, Synofzik, M, Taylor, RW, Trubicka, J, Tsiakas, K, Unal, O, Wassmer, E, Wedatilake, Y, Wolff, T, Prokisch, H, Morava, E, Pronicka, E, Wevers, RA, de Brouwer, AP, Wortmann, SB

مصطلحات موضوعية: Adolescent, Adult, Amino Acid Sequence, Carboxylic Ester Hydrolases, Child, Preschool, Cohort Studies, Deaf-Blind Disorders, Dystonia, Female, Humans, Infant, Newborn, Intellectual Disability, Male, Mutation, Optic Atrophy, Young Adult, Disease Progression, HDE MTB

العلاقة: Ann Neurol. 2017 Dec;82(6):1004-1015; http://hdl.handle.net/10400.17/3195Test

الإتاحة: https://doi.org/10.1002/ana.25110Test
http://hdl.handle.net/10400.17/3195Test

المؤلفون: 100,000 Genomes Project Pilot Investigators, Smedley, D, Smith, KR, Martin, A, Thomas, EA, McDonagh, EM, Cipriani, V, Ellingford, JM, Arno, G, Tucci, A, Vandrovcova, J, Chan, G, Williams, HJ, Ratnaike, T, Wei, W, Stirrups, K, Ibanez, K, Moutsianas, L, Wielscher, M, Need, A, Barnes, MR, Vestito, L, Buchanan, J, Wordsworth, S, Ashford, S, Rehmström, K, Li, E, Fuller, G, Twiss, P, Spasic-Boskovic, O, Halsall, S, Floto, RA, Poole, K, Wagner, A, Mehta, SG, Gurnell, M, Burrows, N, James, R, Penkett, C, Dewhurst, E, Gräf, S, Mapeta, R, Kasanicki, M, Haworth, A, Savage, H, Babcock, M, Reese, MG, Bale, M, Baple, E, Boustred, C, Brittain, H, de Burca, A, Bleda, M, Devereau, A, Halai, D, Haraldsdottir, E, Hyder, Z, Kasperaviciute, D, Patch, C, Polychronopoulos, D, Matchan, A, Sultana, R, Ryten, M, Tavares, ALT, Tregidgo, C, Turnbull, C, Welland, M, Wood, S, Snow, C, Williams, E, Leigh, S, Foulger, RE, Daugherty, LC, Niblock, O, Leong, IUS, Wright, CF, Davies, J, Crichton, C, Welch, J, Woods, K, Abulhoul, L, Aurora, P, Bockenhauer, D, Broomfield, A, Cleary, MA, Lam, T, Dattani, M, Footitt, E, Ganesan, V, Grunewald, S, Compeyrot-Lacassagne, S, Muntoni, F, Pilkington, C, Quinlivan, R, Thapar, N, Wallis, C, Wedderburn, LR, Worth, A, Bueser, T, Compton, C, Deshpande, C, Fassihi, H, Haque, E, Izatt, L, Josifova, D, Mohammed, S, Robert, L, Rose, S, Ruddy, D, Sarkany, R, Say, G, Shaw, AC, Wolejko, A, Habib, B, Burns, G, Hunter, S, Grocock, RJ, Humphray, SJ, Robinson, PN, Haendel, M, Simpson, MA, Banka, S, Clayton-Smith, J, Douzgou, S, Hall, G, Thomas, HB, O'Keefe, RT, Michaelides, M, Moore, AT, Malka, S, Pontikos, N, Browning, AC, Straub, V, Gorman, GS, Horvath, R, Quinton, R, Schaefer, AM, Yu-Wai-Man, P, Turnbull, DM, McFarland, R, Taylor, RW, O'Connor, E, Yip, J, Newland, K, Morris, HR, Polke, J, Wood, NW, Campbell, C, Camps, C, Gibson, K, Koelling, N, Lester, T, Németh, AH, Palles, C, Patel, S, Roy, NBA, Sen, A, Taylor, J, Cacheiro, P, Jacobsen, JO, Seaby, EG, Davison, V, Chitty, L, Douglas, A, Naresh, K, McMullan, D, Ellard, S, Temple, IK, Mumford, AD, Wilson, G, Beales, P, Bitner-Glindzicz, M, Black, G, Bradley, JR, Brennan, P, Burn, J, Chinnery, PF, Elliott, P, Flinter, F, Houlden, H, Irving, M, Newman, W, Rahman, S, Sayer, JA, Taylor, JC, Webster, AR, Wilkie, AOM, Ouwehand, WH, Raymond, FL, Chisholm, J, Hill, S, Bentley, D, Scott, RH, Fowler, T, Rendon, A, Caulfield, M

المساهمون: Turnbull, Clare

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Family Characteristics, Female, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Pilot Projects, Polymerase Chain Reaction, Rare Diseases, Sensitivity and Specificity, State Medicine, United Kingdom, Whole Genome Sequencing, Young Adult

جغرافية الموضوع: United States

وصف الملف: Print; 1880; application/pdf

العلاقة: New England Journal of Medicine, 2021, 385 (20), pp. 1868 - 1880; https://repository.icr.ac.uk/handle/internal/5462Test

الإتاحة: https://doi.org/10.1056/NEJMoa2035790Test
https://repository.icr.ac.uk/handle/internal/5462Test

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: 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

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

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Mitochondrial Diseases, Adolescent, Genetic Variation, Middle Aged, Mitochondrial Proton-Translocating ATPases, Brief Communication, United Kingdom, Cohort Studies, Young Adult, Humans, Female, Brief Communications, Child, Aged, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5e406cb62705e9180f68b1e21123416eTest
http://ora.ox.ac.uk/objects/uuidTest:

المؤلفون: Alston, CL, Heidler, J, Dibley, MG, Kremer, LS, Taylor, LS, Fratter, C, French, CE, Glasgow, RIC, Feichtinger, RG, Delon, I, Pagnamenta, AT, Dolling, H, Lemonde, H, Aiton, N, Bjørnstad, A, Henneke, L, Gärtner, J, Thiele, H, Tauchmannova, K, Quaghebeur, G, Houstek, J, Sperl, W, Raymond, FL, Prokisch, H, Mayr, JA, McFarland, R, Poulton, J, Ryan, MT, Wittig, I, Henneke, M, Taylor, RW

المساهمون: French, Courtney [0000-0001-7620-1544], Dolling, Helen [0000-0001-6279-3622], Raymond, Lucy [0000-0003-2652-3355], Apollo - University of Cambridge Repository

المصدر: Am. J. Hum. Genet. 103, 592-601 (2018)
American Journal of Human Genetics

مصطلحات موضوعية: Male, Electron Transport Complex I, Mitochondrial Diseases, complex I, complexome profiling, Infant, Fibroblasts, Mitochondria, Mitochondrial Proteins, Complex I, Complexome Profiling, Mitochondrial Disease, Ndufa6, mitochondrial disease, Genetic Heterogeneity, NDUFA6, Phenotype, Report, Mutation, Humans, Female, ddc:610, Amino Acid Sequence, Sequence Alignment, Alleles

وصف الملف: application/pdf; application/octet-stream

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7d80d600246ac70ef8c2bf3a169d48Test
https://www.repository.cam.ac.uk/handle/1810/293025Test

المؤلفون: Alston, CL, Howard, C, Olahova, M, Hardy, SA, He, L, Murray, PG, O'Sullivan, S, Doherty, G, Shield, JPH, Hargreaves, IP, Monavari, AA, Knerr, I, McCarthy, P, Morris, AAM, Thorburn, DR, Prokisch, H, Clayton, PE, McFarland, R, Hughes, J, Crushell, E, Taylor, RW

المصدر: Alston, C L, Howard, C, Oláhová, M, Hardy, S A, He, L, Murray, P G, O'Sullivan, S, Doherty, G, Hamilton-Shield, J P, Hargreaves, I P, Monavari, A A, Knerr, I, McCarthy, P W, Morris, A A M, Thorburn, D R, Prokisch, H, Clayton, P, McFarland, R, Hughes, J, Crushell, E & Taylor, R W 2016, ' A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype ', Journal of Medical Genetics, vol. 53, no. 9, pp. 634-641 . https://doi.org/10.1136/jmedgenet-2015-103576Test
Alston, C L, Howard, C, Oláhová, M, Hardy, S A, He, L, Murray, P G, O'Sullivan, S, Doherty, G, Shield, J P H, Hargreaves, I P, Monavari, A A, Knerr, I, McCarthy, P, Morris, A A M, Thorburn, D R, Prokisch, H, Clayton, P E, McFarland, R, Hughes, J, Crushell, E & Taylor, R W 2016, ' A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2015-103576Test
Journal of Medical Genetics

مصطلحات موضوعية: Male, RM, Mitochondrial Diseases, Dwarfism, dysmorphic features, QH301, complex I deficiency, Humans, Exome, Child, QH426, Genetic Association Studies, Electron Transport Complex I, Genotype-Phenotype Correlations, Homozygote, Facies, Infant, Mitochondria, Pedigree, mitochondrial disease, Phenotype, Child, Preschool, Mutation, Female, prognosis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a073f4db3bc31a398af2407de1f617f0Test
https://hdl.handle.net/1983/e081c033-dea2-494f-a3cb-9337e2ceb7dfTest

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

المصدر: Campbell, G R, Reeve, A, Ziabreva, I, Polvikoski, T M, Taylor, R W, Reynolds, R, Turnbull, D M & Mahad, D J 2013, ' Mitochondrial DNA deletions and depletion within paraspinal muscles ', Neuropathology and Applied Neurobiology, vol. 39, no. 4, pp. 377-389 . https://doi.org/10.1111/j.1365-2990.2012.01290.xTest
Neuropathology and Applied Neurobiology

مصطلحات موضوعية: Adult, Male, Aging, Mitochondrial Diseases, Adolescent, Muscle Fibers, Skeletal, Posture, Gene Dosage, Intervertebral Disc Degeneration, Laser Capture Microdissection, DNA, Mitochondrial, Polymerase Chain Reaction, Young Adult, mitochondrial DNA deletion, Humans, Aged, Aged, 80 and over, Original Articles, Neuromuscular Diseases, Sequence Analysis, DNA, Middle Aged, Immunohistochemistry, Respiratory Muscles, Scoliosis, ageing, paraspinal muscle, Cyclooxygenase 1, Female, Autopsy, Gene Deletion

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::50727cab8da35c0950ef18f211cf03d8Test
https://www.pure.ed.ac.uk/ws/files/14689492/nan1290.pdfTest