المؤلفون: Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A deMoura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls

المصدر: EMBO Molecular Medicine, Vol 15, Iss 5, Pp n/a-n/a (2023)

مصطلحات موضوعية: Bloom syndrome, mitochondrial disease, mtDNA, TOP3A, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test

الوصول الحر: https://doaj.org/article/c9e7e4ced0784d4394725c67d2a116f4Test

المؤلفون: Naomi Warren, Andrew M Schaefer, Robert W Taylor, Emma L Blakely, Sila Hopton, Menatalla Elwan, Kate Craig, Gavin Falkous

المصدر: BMJ Neurology Open, Vol 4, Iss 2 (2022)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://neurologyopen.bmj.com/content/4/2/e000352.fullTest; https://doaj.org/toc/2632-6140Test

الوصول الحر: https://doaj.org/article/34f9d3512f6e4f2d80f53aa2bcfd5e5bTest

المؤلفون: Hannah Steele, Aurora Gomez‐Duran, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlo Viscomi, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo, Rita Horvath, Patrick F Chinnery

المصدر: EMBO Molecular Medicine, Vol 12, Iss 3, Pp n/a-n/a (2020)

مصطلحات موضوعية: bezafibrate, metabolomics, mitochondrial disorder, mitochondrial DNA, mitochondrial encephalomyopathy, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test

الوصول الحر: https://doaj.org/article/2afb00dd500c48f4976c29a1434a3730Test

المؤلفون: Yi Shiau Ng, Kyle Thompson, Daniela Loher, Sila Hopton, Gavin Falkous, Steven A. Hardy, Andrew M. Schaefer, Sandip Shaunak, Mark E. Roberts, James B. Lilleker, Robert W. Taylor

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: mitochondrial DNA, muscle biopsy, myopathy, deafness, tissue segregation, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2020.00024/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/8915da29156e45bda3e021d246a36389Test

المؤلفون: Frances Smith, Sila Hopton, Cristina Dallabona, Micol Gilberti, Gavin Falkous, Fiona Norwood, Claudia Donnini, Gráinne S. Gorman, Barnaby Clark, Robert W. Taylor, Austin G. Kulasekararaj

المصدر: Haematologica, Vol 103, Iss 12 (2018)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

العلاقة: https://haematologica.org/article/view/8709Test; https://doaj.org/toc/0390-6078Test; https://doaj.org/toc/1592-8721Test

الوصول الحر: https://doaj.org/article/26144a92529c4710a30e2fa8d222489dTest

المؤلفون: Charlotte M. Zierz, Karen Baty, Emma L. Blakely, Sila Hopton, Gavin Falkous, Andrew M. Schaefer, Marios Hadjivassiliou, Ptolemaios G. Sarrigiannis, Yi Shiau Ng, Robert W. Taylor

المصدر: Journal of Clinical Medicine, Vol 8, Iss 6, p 789 (2019)

مصطلحات موضوعية: isolated COX deficiency, cerebellar ataxia, mitochondrial DNA, single fibre segregation studies, heteroplasmy, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/8/6/789Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/5108607b68c84a8d96119266f3434286Test

المؤلفون: Menatalla, Elwan, Andrew M, Schaefer, Kate, Craig, Sila, Hopton, Gavin, Falkous, Emma L, Blakely, Robert W, Taylor, Naomi, Warren

المصدر: BMJ neurology open. 4(2)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f0644be283137809def66f8ed40df3f4Test
https://pubmed.ncbi.nlm.nih.gov/36518302Test

المؤلفون: Mary M. Reilly, William Stewart, Gavin Falkous, Y.S. Ng, Robert W. Taylor, Emma L. Blakely, Sila Hopton, Andrew M. Schaefer, Maria Elena Farrugia, Hugh J. Willison, Karen Baty

المصدر: Neuromuscular Disorders

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Mitochondrial DNA, Mitochondrial disease, Exercise intolerance, Article, 03 medical and health sciences, 0302 clinical medicine, Biopsy, medicine, Exome, Genetics (clinical), Muscle biopsy, medicine.diagnostic_test, Cerebellar ataxia, business.industry, Segregation study, medicine.disease, Heteroplasmy, 030104 developmental biology, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::791a69f8bebd6e9029a4dc9d697863eaTest
http://europepmc.org/articles/PMC8708152Test

المؤلفون: Debby M.E.I. Hellebrekers, Robert W. Taylor, Alexandra T.M. Hendrickx, Emma L. Blakely, Nadine A. M. E. van der Beek, Hubert J.M. Smeets, Irenaeus F.M. de Coo, Sila Hopton, Steven A. Hardy, Gavin Falkous

المساهمون: Neurology, MUMC+: DA KG Lab Centraal Lab (9), RS: MHeNs - R3 - Neuroscience, RS: FHML MaCSBio, Klinische Genetica

المصدر: Neuromuscular Disorders, 29(9), 693-697. Elsevier Ltd.
Neuromuscular Disorders, 29(9), 693-697. Elsevier Science

مصطلحات موضوعية: 0301 basic medicine, Ophthalmoplegia, Chronic Progressive External, RNA, Transfer, Met, Myopathy, Mitochondrial disease, DNA, Mitochondrial, Severity of Illness Index, Electron Transport Complex IV, 03 medical and health sciences, 0302 clinical medicine, Mitochondrial myopathy, Chronic progressive external ophthalmoplegia, medicine, Humans, Cytochrome c oxidase, ASSAY, Muscle, Skeletal, MUTATION, Genetics (clinical), Aged, MTTM, Muscle biopsy, biology, medicine.diagnostic_test, External ophthalmoplegia, mtDNA variant, Skeletal muscle, medicine.disease, Molecular biology, 030104 developmental biology, medicine.anatomical_structure, Neurology, m.4414T>C, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d2c41ec99cbbf17160e591d748a6ccTest
https://doi.org/10.1016/j.nmd.2019.08.005Test

المؤلفون: Florian A Rosenberger, Jia Xin Tang, Kate Sergeant, Marco F Moedas, Charlotte M Zierz, David Moore, Conrad Smith, David Lewis, Nishan Guha, Sila Hopton, Gavin Falkous, Amanda Lam, Angela Pyle, Joanna Poulton, Gráinne S Gorman, Robert W Taylor, Christoph Freyer, Anna Wredenberg

المصدر: Human Molecular Genetics

مصطلحات موضوعية: Mice, S-Adenosylmethionine, Mitochondrial Diseases, Genetics, Animals, General Medicine, Molecular Biology, Methylation, S-Adenosylhomocysteine, Genetics (clinical), Mitochondria

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c34ac22914fcbdbb6c7b84c317630ae1Test
https://pubmed.ncbi.nlm.nih.gov/35024855Test