المؤلفون: Sanjeev Rajakulendran, Robert D S Pitceathly, Jan-Willem Taanman, Harry Costello, Mary G Sweeney, Cathy E Woodward, Zane Jaunmuktane, Janice L Holton, Thomas S Jacques, Brian N Harding, Carl Fratter, Michael G Hanna, Shamima Rahman

المصدر: PLoS ONE, Vol 11, Iss 1, p e0145500 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4703200?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/ec6375b1818241cab0f1ce4c29b4eb0c

المؤلفون: William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/08d61047bd944df7b04fb88435d3cd14

المؤلفون: Chiara Pizzamiglio, Enrico Bugiardini, William L. Macken, Cathy E. Woodward, Michael G. Hanna, Robert D. S. Pitceathly

المصدر: Genes; Volume 12; Issue 10; Pages: 1643

مصطلحات موضوعية: primary mitochondrial diseases, MELAS, stroke-like episodes, brain MRI, mitochondrial DNA

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12101643

الاتاحة: https://doi.org/10.3390/genes12101643

المؤلفون: Enrico Bugiardini, Simon Pope, René G. Feichtinger, Olivia V. Poole, Alan M. Pittman, Cathy E. Woodward, Simon Heales, Rosaline Quinlivan, Henry Houlden, Johannes A. Mayr, Michael G. Hanna, Robert D.S. Pitceathly

المصدر: Journal of Clinical Medicine; Volume 8; Issue 7; Pages: 991

مصطلحات موضوعية: mitochondrial diseases, TPK1, thiamine pyrophosphate, Leigh syndrome, thiamine deficiency

وصف الملف: application/pdf

Relation: Immunology; https://dx.doi.org/10.3390/jcm8070991

الاتاحة: https://doi.org/10.3390/jcm8070991

المؤلفون: Róisín M. Boggan, Yi Shiau Ng, Imogen G. Franklin, Charlotte L. Alston, Emma L. Blakely, Boriana Büchner, Enrico Bugiardini, Kevin Colclough, Catherine Feeney, Michael G. Hanna, Andrew T. Hattersley, Thomas Klopstock, Cornelia Kornblum, Michelangelo Mancuso, Kashyap A. Patel, Robert D. S. Pitceathly, Chiara Pizzamiglio, Holger Prokisch, Jochen Schäfer, Andrew M. Schaefer, Maggie H. Shepherd, Annemarie Thaele, Rhys H Thomas, Doug M. Turnbull, Cathy E. Woodward, Gráinne S. Gorman, Robert McFarland, Robert W. Taylor, Heather J. Cordell, Sarah J. Pickett

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bae12a4d9113f080953b92861f1f30e5
https://doi.org/10.1101/2022.11.18.22282450

المؤلفون: Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, Jan-Willem Taanman, Michael G. Hanna

المصدر: Cell Reports, Vol 3, Iss 6, Pp 1795-1805 (2013)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124713002222; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/7f50ed1f094e41fea13e5a8a8b52cb0f

المؤلفون: Damian Kozyra, Michael G. Hanna, Sami Amawi, Olivia V. Poole, Allan H. Young, N. James, Alessandro Colasanti, I Skorupinska, Rosaline Quinlivan, L. Germain, Robert D S Pitceathly, M Skorupinska, Sarah J. Holmes, Enrico Bugiardini, Cathy E. Woodward

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 91:892-894

مصطلحات موضوعية: Male, medicine.medical_specialty, Bipolar Disorder, Mitochondrial Diseases, Population, 03 medical and health sciences, 0302 clinical medicine, Surveys and Questionnaires, Internal medicine, Humans, Medicine, education, Major depressive episode, Psychiatric Status Rating Scales, education.field_of_study, business.industry, Mood Disorder Questionnaire, Middle Aged, medicine.disease, Comorbidity, Psychiatry and Mental health, Cross-Sectional Studies, Hypomania, Mood, Mood disorders, Female, Surgery, Neurology (clinical), medicine.symptom, business, Mania, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f164a4f991aa84b588f83a13c152f0ef
https://doi.org/10.1136/jnnp-2020-323632

المؤلفون: Enrico Bugiardini, Cathy E. Woodward, Amanda Lam, Robert D S Pitceathly, Michael G. Hanna, Sonia Gandhi, Olivia V. Poole, Ros Quinlivan, Chris M. Everett, Silvia Marino

المصدر: Mitochondrion. 47:294-297

مصطلحات موضوعية: Adult, 0301 basic medicine, Muscle tissue, Pathology, medicine.medical_specialty, Mitochondrial DNA, Mitochondrial disease, Encephalopathy, Biology, Electron Transport Complex IV, 03 medical and health sciences, 0302 clinical medicine, Optic Atrophies, Hereditary, Basal ganglia, medicine, Humans, Cytochrome c oxidase, Molecular Biology, Cell Biology, medicine.disease, Hyperintensity, 030104 developmental biology, medicine.anatomical_structure, Codon, Terminator, biology.protein, Molecular Medicine, Female, Brainstem, Leigh Disease, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f6917554b927dd9b411daed735987e3
https://doi.org/10.1016/j.mito.2019.02.004

المؤلفون: Micol Falabella, Luis Carlos Tabara, Olivia V. Poole, Takashi Tatsuta, Shanti Lu, Cathy E. Woodward, Robyn Labrum, Channa Hewamadduma, Erika Fernandez-Vizarra, Thomas Langer, Jan-Willem Taanman, Michael G. Hanna, Julien Prudent, Antonella Spinazzola, Robert D.S. Pitceathly

المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1863:148844

مصطلحات موضوعية: Biophysics, Cell Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::daf59cd2e722a84893f6611f7fecab79
https://doi.org/10.1016/j.bbabio.2022.148844

المؤلفون: Petros Syrris, Enrico Bugiardini, Cathy E. Woodward, Michael G. Hanna, Marta Futema, Joanna Jager, Robert D S Pitceathly, Alan Pittman, Perry M. Elliott, Reem Salem, David Murphy, Luis R. Lopes, Mohammed M Akhtar, Konstantinos Savvatis

المصدر: Circulation: Genomic and Precision Medicine. 14

مصطلحات موضوعية: Adult, Male, Genetics, Mitochondrial DNA, RNA, Transfer, Leu, Mitochondrial disease, Hypertrophic cardiomyopathy, NADH Dehydrogenase, General Medicine, Cardiomyopathy, Hypertrophic, Middle Aged, Biology, medicine.disease, DNA, Mitochondrial, Magnetic Resonance Imaging, Electrocardiography, Exome Sequencing, medicine, Humans, Point Mutation, Female, Exome, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c65c8a20186a75f99543bfa3a0789f6
https://doi.org/10.1161/circgen.121.003388

المؤلفون: Cathy E. Woodward, Thomas S. Jacques, Paul Gissen, Simon Heales, Jane A. Hurst, Richard H Scott, Emma Footitt, Sanjay Bhate, Shamima Rahman, James Davison, Stephanie Grunewald, Patrick Forny, Thomas Cullup, Spyros Batzios, Maureen Cleary, Anupam Chakrapani, Amanda Lam

المصدر: Neurology: Genetics
article-version (Version of Record) 3

مصطلحات موضوعية: Mitochondrial DNA, Muscle biopsy, medicine.diagnostic_test, business.industry, Mitochondrial disease, medicine.disease, Omics, Bioinformatics, Article, Neuroimaging, Cohort, Medicine, Biochemical testing, Neurology (clinical), business, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f2ecd758f352e03720a9923f82e4dc3
https://pubmed.ncbi.nlm.nih.gov/34056100

المؤلفون: Alessandro Colasanti, Enrico Bugiardini, Sami Amawi, Olivia V Poole, Iwona Skorupinska, Mariola Skorupinska, Louise Germain, Damian Kozyra, Sarah Holmes, Natalie James, Cathy E Woodward, Rosaline Quinlivan, Allan H Young, Michael G Hanna, Robert D S Pitceathly

مصطلحات موضوعية: mitochondrial disorders, psychiatry

Relation: 10779/uos.23479745.v1; https://figshare.com/articles/journal_contribution/_Letter_Primary_mitochondrial_diseases_increase_susceptibility_to_bipolar_affective_disorder/23479745

الاتاحة: https://figshare.com/articles/journal_contribution/_Letter_Primary_mitochondrial_diseases_increase_susceptibility_to_bipolar_affective_disorder/23479745

المؤلفون: Alejandro Horga, Amanda Lam, Rosaline Quinlivan, Kerrie Venner, Enrico Bugiardini, Eleonora Lamantea, Massimo Zeviani, Janice L. Holton, Cathy E. Woodward, Alessandra Valerio, Iain P. Hargreaves, Annapurna Chalasani, Silvia Marchet, Robert D S Pitceathly, Costanza Lamperti, Cristiane Benincá, Emanuela Bottani, Olivia V. Poole, Michael G. Hanna, Henry Houlden

المصدر: Neurology: Genetics

مصطلحات موضوعية: Mitochondrial encephalomyopathy, RM, Ataxia, Mitochondrial disease, Biology, Article, RS, Electron Transport Complex IV, 03 medical and health sciences, QH301, 0302 clinical medicine, medicine, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Cerebellar ataxia, Leukodystrophy, medicine.disease, Molecular biology, 3. Good health, QR, Mitochondria, Transplantation, MT-ATP6, Mutation, biology.protein, Electron Transport Complex IV, Mitochondria, Mutation, Myoclonic epilepsy, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ec96f2c97b9ff9f76378f8f5ca25d58
http://hdl.handle.net/11577/3354164

المؤلفون: Mary G. Sweeney, Iain P. Hargreaves, Yehani Wedatilake, Robert D S Pitceathly, Henry Houlden, Matthew E. Hurles, Jim Stalker, Shamima Rahman, Sebahattin Cirak, James M. Polke, A Sailer, Francesco Muntoni, A. Reghan Foley, Jan-Willem Taanman, Cathy E. Woodward, Michael G. Hanna

المصدر: Cell Reports, Vol 3, Iss 6, Pp 1795-1805 (2013)
Cell Reports, Vol 4, Iss 2, p 402 (2013)
Cell Reports

مصطلحات موضوعية: Enzyme complex, Protein subunit, Blotting, Western, Molecular Sequence Data, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Electron Transport Complex IV, 03 medical and health sciences, NDUFA4, 0302 clinical medicine, Report, medicine, Humans, Cytochrome c oxidase, Exome, Mitochondrial respiratory chain complex I, lcsh:QH301-705.5, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Base Sequence, biology, Homozygote, Correction, Computational Biology, Disease gene identification, Immunohistochemistry, Pedigree, 3. Good health, lcsh:Biology (General), biology.protein, 5' Untranslated Regions, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ca52d1e40673270ea490e6e753c5846
http://www.sciencedirect.com/science/article/pii/S2211124713002222

المؤلفون: Iain P. Hargreaves, Julie Evans, C Smith, Shamima Rahman, Janice L. Holton, Carl Fratter, Cathy E. Woodward, Mary G. Sweeney, Nisha Bhardwaj, Michael G. Hanna, Jasper M. Morrow, Susan E. Tomlinson, Robert D S Pitceathly

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 84:107-110

مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Cachexia, DNA polymerase, Mitochondrial disease, Mutation, Missense, DNA-Directed DNA Polymerase, medicine.disease_cause, DNA, Mitochondrial, medicine, Humans, Missense mutation, Myopathy, Polymerase, Genetics, Mutation, biology, Sequence Analysis, DNA, Middle Aged, medicine.disease, DNA Polymerase gamma, Distal Myopathies, Psychiatry and Mental health, Phenotype, biology.protein, Surgery, Neurology (clinical), medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76c40ea4381d530b01a853a660d53b6b
https://doi.org/10.1136/jnnp-2012-303232

المؤلفون: Sanjay M. Sisodiya, Mary B. Davis, Richard Appleton, J. Helen Cross, Shelagh J.M. Smith, Rachael Ellis, Joan Liu, Vaneesha Gibbons, Ioannis Liagkouras, Cathy E. Woodward, Sameer M. Zuberi, Susannah T. Bellows, Lillian Martinian, Thomas S. Jacques, Ingrid E. Scheffer, Claudia B. Catarino, Robyn Labrum, Matthias J. Koepp, Jacinta M McMahon, Maria Thom, Simone C. Yendle

المصدر: Brain

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Encephalopathy, Epilepsies, Myoclonic, Nerve Tissue Proteins, Neuropathology, Sodium Channels, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Dravet syndrome, Medicine, Humans, SCN1A, Na+ channel, Generalized epilepsy, 030304 developmental biology, Aged, 0303 health sciences, Hippocampal sclerosis, neuropathology, business.industry, Seizure types, Brain, Original Articles, Syndrome, Middle Aged, medicine.disease, encephalopathy, 3. Good health, NAV1.1 Voltage-Gated Sodium Channel, Anesthesia, Epilepsy syndromes, Mutation, Disease Progression, epilepsy, Female, Neurology (clinical), business, Cognition Disorders, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52cce4d5704690bd22554558059fbdb0
http://europepmc.org/articles/PMC3187538

المؤلفون: Robert D S, Pitceathly, Elisa, Fassone, Jan-Willem, Taanman, Michael, Sadowski, Carl, Fratter, Ese E, Mudanohwo, Cathy E, Woodward, Mary G, Sweeney, Janice L, Holton, Michael G, Hanna, Shamima, Rahman

المصدر: Journal of Medical Genetics. 48:610-617

مصطلحات موضوعية: Cohort Studies, Base Sequence, DNA Mutational Analysis, Mutation, Ribonucleotide Reductases, Genetics, Humans, Cell Cycle Proteins, Genetic Predisposition to Disease, Kearns-Sayre Syndrome, Gene Deletion, Genetic Association Studies, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41fa46a8aae20ec378e2696accd07fbf
https://doi.org/10.1136/jmg.2010.088328

المؤلفون: Enrico Bugiardini, Cathy E. Woodward, R.D.S. Pitceathly, Alan M. Pittman, Michael G. Hanna, J. Hardy, H Houlden, Olivia V. Poole, D. Murphy

المصدر: Neuromuscular Disorders. 28:S33

مصطلحات موضوعية: Mitochondrial DNA, Data sequences, Neurology, Pediatrics, Perinatology and Child Health, Square (cipher), Neurology (clinical), Computational biology, Biology, Genetics (clinical), Queen (playing card)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::809ae15561df32c211d3c1e01deb856a
https://doi.org/10.1016/s0960-8966(18)30389-4

المؤلفون: Patrick F. Chinnery, Robert McFarland, Stefan Spinty, Rita Horvath, Andrew M. Schaefer, Yi Shiau Ng, Michael G. Hanna, Mark Roberts, Robert D. S. Pitceathly, Carl Fratter, Emma L. Blakely, Albert Lim, Joanna Poulton, Imelda Hughes, Apphia Bunting, Mika H. Martikainen, Christian de Goede, Meriel McEntagart, Doug M. Turnbull, Alasdair Blain, Sunil Sharma, Cathy E. Woodward, Charlotte L. Alston, Robert W. Taylor, Gráinne S. Gorman, Enrico Bugiardini, Iain Horrocks, Victoria Nesbitt

المساهمون: lääket. tdk yhteiset, Lääket. tdk yhteiset, tyks, vsshp, tyks, vsshp, 2607000

Relation: 86; Annals of Neurology; https://www.utupub.fi/handle/10024/162465; URN:NBN:fi-fe2021042820943

الاتاحة: https://www.utupub.fi/handle/10024/162465
https://onlinelibrary.wiley.com/doi/full/10.1002/ana.25525

المؤلفون: Sanjeev, Rajakulendran, Robert D S, Pitceathly, Jan-Willem, Taanman, Harry, Costello, Mary G, Sweeney, Cathy E, Woodward, Zane, Jaunmuktane, Janice L, Holton, Thomas S, Jacques, Brian N, Harding, Carl, Fratter, Michael G, Hanna, Shamima, Rahman

المصدر: PLoS ONE

مصطلحات موضوعية: Adult, Male, Mitochondrial Diseases, Adolescent, Genotype, Homozygote, Brain, Mitochondrial Myopathies, Diffuse Cerebral Sclerosis of Schilder, DNA-Directed DNA Polymerase, Real-Time Polymerase Chain Reaction, DNA, Mitochondrial, Polymorphism, Single Nucleotide, DNA Polymerase gamma, Phenotype, Liver, Child, Preschool, Humans, Female, Muscle, Skeletal, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b142d20d3b94ed58ad629ceb2ac27878
https://pubmed.ncbi.nlm.nih.gov/26735972