المؤلفون: Katrin A. Bangel, Albert Z. Lim, Alasdair Blain, Yi Shiau Ng, Amy Winder, Joseph Bulmer, Grainne Gorman, Mark Baker, Robert McFarland

المصدر: BMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Mitochondrial disease, Mitochondrial epilepsy, Pharmacoresistant epilepsy, Delayed-start study design, Refractory focal seizures, Transcranial direct current stimulation (tDCS), Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/75cefdcaf5114d3abac37f9dc9294184

المؤلفون: Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C. Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W. Taylor, Krutik Patel, Mahmoud R. Fassad, Jana Vandrovcova, The ICGNMD Consortium, Ronald J. A. Wanders, Francois H. van der Westhuizen

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Multiple acyl-CoA dehydrogenase deficiency, MADD, Glutaric aciduria type II, ETFDH, Riboflavin, South Africa, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/4f97c609fc144737ad690173a33bc63e

المؤلفون: Laura A Smith, Chun Chen, Nichola Z Lax, Robert W Taylor, Daniel Erskine, Robert McFarland

المصدر: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Alpers’ syndrome, POLG, Mitochondrial Epilepsy, Reactive astrogliosis, GFAP, Kir4.1, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/8e9d2f09c5784d55a2312be18ed13da1

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 de Moura 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 1-21 (2023)

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

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/c9e7e4ced0784d4394725c67d2a116f4

المؤلفون: Wui‐Kwan Wong, Shanti Balasubramaniam, Rachel S. H. Wong, Nicole Graf, David R. Thorburn, Robert McFarland, Christopher Troedson

المصدر: JIMD Reports, Vol 63, Iss 6, Pp 546-554 (2022)

مصطلحات موضوعية: CTBP1, neurodevelopmental disorder, secondary mitochondrial dysfunction, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/df0e1594280e47c0a558ea4c173944ec

المؤلفون: The AIMM Trial Group:, Alaa Abouhajar, Lisa Alcock, Theophile Bigirumurame, Penny Bradley, Laura Brown, Ian Campbell, Sylvia Del Din, Julie Faitg, Gavin Falkous, Gráinne S. Gorman, Rachel Lakey, Robert McFarland, Jane Newman, Lynn Rochester, Vicky Ryan, Hesther Smith, Alison Steel, Renae J. Stefanetti, Huizhong Su, Robert W. Taylor, Naomi J.P. Thomas, Helen Tuppen, Amy E. Vincent, Charlotte Warren, Gillian Watson

المصدر: Trials, Vol 23, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: Acipimox, Adenosine triphosphate, Mitochondrial disease, Mitochondria, Myopathy, Randomised controlled trial, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1745-6215

URL الوصول: https://doaj.org/article/0e77b4f741a34930bece1b228e941d9a

المؤلفون: David Houghton, Yi Shiau Ng, Matthew A. Jackson, Renae Stefanetti, Paula Hynd, Micheál Mac Aogáin, Christopher J. Stewart, Christopher A. Lamb, Alexandra Bright, Catherine Feeney, Jane Newman, Doug M. Turnbull, Robert McFarland, Alasdair P. Blain, Gráinne S. Gorman

المصدر: Gastro Hep Advances, Vol 1, Iss 4, Pp 666-677 (2022)

مصطلحات موضوعية: Gastrointestinal Dysmotility, Mitochondria, Diet, Residue, Gut Microbiome, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S277257232200053X; https://doaj.org/toc/2772-5723

URL الوصول: https://doaj.org/article/2ccd4656b73646229b46bc482079664a

المؤلفون: Boris Pantic, Daniel Ives, Mara Mennuni, Diego Perez-Rodriguez, Uxoa Fernandez-Pelayo, Amaia Lopez de Arbina, Mikel Muñoz-Oreja, Marina Villar-Fernandez, Thanh-mai Julie Dang, Lodovica Vergani, Iain G. Johnston, Robert D. S. Pitceathly, Robert McFarland, Michael G. Hanna, Robert W. Taylor, Ian J. Holt, Antonella Spinazzola

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/ddb6e0fbdcc044759f368cb2f07e6239

المؤلفون: Scott A. Lujan, Matthew J. Longley, Margaret H. Humble, Christopher A. Lavender, Adam Burkholder, Emma L. Blakely, Charlotte L. Alston, Grainne S. Gorman, Doug M. Turnbull, Robert McFarland, Robert W. Taylor, Thomas A. Kunkel, William C. Copeland

المصدر: Genome Biology, Vol 21, Iss 1, Pp 1-34 (2020)

مصطلحات موضوعية: Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13059-020-02138-5; https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/15e2915608854379b2a6c820537c4ae2

المؤلفون: Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor

المصدر: EMBO Molecular Medicine, Vol 12, Iss 11, Pp 1-14 (2020)

مصطلحات موضوعية: complex I, Leigh syndrome, mitochondrial disease, NDUFC2, OXPHOS, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/8060cfefccbf4f1692d0ea57083765cf

المؤلفون: Ana Cotta, Charlotte L. Alston, Sidney Baptista‐Junior, Julia F. Paim, Elmano Carvalho, Monica M. Navarro, Marie Appleton, Yi Shiau Ng, Jaquelin Valicek, Antonio L. da‐Cunha‐Junior, Maria I. Lima, Alessandra de laRocque Ferreira, Reinaldo I. Takata, Iain P. Hargreaves, Gráinne S. Gorman, Robert McFarland, Germaine Pierre, Robert W. Taylor

المصدر: JIMD Reports, Vol 54, Iss 1, Pp 45-53 (2020)

مصطلحات موضوعية: ataxia, CoQ10, COQ8A deletion, encephalomyopathy, mitochondrial disease, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/c03b086e0e84420b9b65b484900a0f01

المؤلفون: Kyle Thompson, Lucas Bianchi, Francesca Rastelli, Florence Piron-Prunier, Sophie Ayciriex, Claude Besmond, Laurence Hubert, Magalie Barth, Inês A. Barbosa, Charu Deshpande, Manali Chitre, Sarju G. Mehta, Eric J.M. Wever, Pascale Marcorelles, Sandra Donkervoort, Dimah Saade, Carsten G. Bönnemann, Katherine R. Chao, Chunyu Cai, Susan T. Iannaccone, Andrew F. Dean, Robert McFarland, Frédéric M. Vaz, Agnès Delahodde, Robert W. Taylor, Agnès Rötig

المصدر: HGG Advances, Vol 3, Iss 2, Pp 100097- (2022)

مصطلحات موضوعية: cardiolipin, mitochondria, mitochondrial disease, WES/WGS, OXPHOS defect, mitochondrial phospholipid, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000136; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/3e06951a912a4d6080e971a99e6d10b0

المؤلفون: Amel Karaa, Laura E. MacMullen, John C. Campbell, John Christodoulou, Bruce H. Cohen, Thomas Klopstock, Yasutoshi Koga, Costanza Lamperti, Rob vanMaanen, Robert McFarland, Sumit Parikh, Shamima Rahman, Fernando Scaglia, Alexander V. Sherman, Philip Yeske, Marni J. Falk

المصدر: Advanced Genetics, Vol 3, Iss 1, Pp n/a-n/a (2022)

مصطلحات موضوعية: clinical trials, data sharing, FAIR standards, primary mitochondrial disease, therapeutic developments, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2641-6573

URL الوصول: https://doaj.org/article/8cf3a91187eb4fbda59f9d81b59014df

المؤلفون: Ahmad Alahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, Robert W Taylor

المصدر: Journal of Biochemical and Clinical Genetics, Vol 2, Iss 1, Pp 54-64 (2019)

مصطلحات موضوعية: mitochondrial disease, arab, middle east, consanguineous populations, next generation sequencing, whole exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.ejmanager.com/fulltextpdf.php?mno=27765; https://doaj.org/toc/1658-807X

URL الوصول: https://doaj.org/article/6edf06c8611646ae9094840dd6dbe621

المؤلفون: Heather L. Moore, Thomas Kelly, Alexandra Bright, Robert H. Field, Andrew M. Schaefer, Alasdair P. Blain, Robert W. Taylor, Robert McFarland, Doug M. Turnbull, Gráinne S. Gorman

المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 5, Pp 826-836 (2019)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/f867092267ad45ff9f7263569a957034

المؤلفون: The AIMM Trial Group:, Alaa Abouhajar, Lisa Alcock, Theophile Bigirumurame, Penny Bradley, Laura Brown, Ian Campbell, Silvia Del Din, Julie Faitg, Gavin Falkous, Grainne S. Gorman, Rachel Lakey, Robert McFarland, Jane Newman, Lynn Rochester, Vicky Ryan, Hesther Smith, Alison Steel, Renae J. Stefanetti, Huizhong Su, Robert W. Taylor, Naomi J. P. Thomas, Helen Tuppen, Amy E. Vincent, Charlotte Warren, Gillian Watson

المصدر: Trials, Vol 23, Iss 1, Pp 1-1 (2022)

مصطلحات موضوعية: Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1745-6215

URL الوصول: https://doaj.org/article/fb56d1703fcd47acb56aff14deae5bfb

المؤلفون: John P Bourke, Robert McFarland, John O'Sullivan, Yi Shiau Ng, Doug M Turnbull, Albert Zishen Lim, Daniel M Jones, Matthew G D Bates, Andrew M Schaefer, Catherine Feeney, Maria E Farrugia, Gráinne S Gorman

المصدر: Open Heart, Vol 8, Iss 1 (2021)

مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://openheart.bmj.com/content/8/1/e001510.full; https://doaj.org/toc/2053-3624

URL الوصول: https://doaj.org/article/90054628b24a4e5babbabd4aa95f3898

المؤلفون: Melis Kose, Ebru Canda, Mehtap Kagnici, Ayça Aykut, Ogün Adebali, Asude Durmaz, Aylin Bircan, Gulden Diniz, Cenk Eraslan, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Berk Ozyilmaz, Taha Reşid Özdemir, Tahir Atik, Sema Kalkan Uçar, Robert McFarland, Robert W. Taylor, Garry K. Brown, Mahmut Çoker, Ferda Özkınay

المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100657- (2020)

مصطلحات موضوعية: COX deficiency, Leigh syndrome, Neuroregression, Next-generation sequencing, Nuclear mitochondrial disorders, SURF1 gene, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920301038; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/85bb37d44ad64c5dbc162b48778f03b7

المؤلفون: Örjan Persson, Yazh Muthukumar, Swaraj Basu, Louise Jenninger, Jay P. Uhler, Anna-Karin Berglund, Robert McFarland, Robert W. Taylor, Claes M. Gustafsson, Erik Larsson, Maria Falkenberg

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/9d0cf8b3b0044c29ad782cb60959b619

المؤلفون: Renae J. Stefanetti, Alasdair Blain, Cecilia Jimenez-Moreno, Linda Errington, Yi Shiau Ng, Robert McFarland, Doug M. Turnbull, Jane Newman, Gráinne S Gorman

المصدر: Wellcome Open Research, Vol 5 (2020)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://wellcomeopenresearch.org/articles/5-84/v1; https://doaj.org/toc/2398-502X

URL الوصول: https://doaj.org/article/106828b095084de08792824715c72390