المؤلفون: R Mishra, Mariya Moosajee, G Cairns, Patrick Yu-Wai-Man, Maria Toms, Angela Pyle, Florence Burté, R Price, J A Sayer, E O'Connor

المساهمون: Apollo - University of Cambridge Repository, Yu Wai Man, Patrick [0000-0001-7847-9320]

المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Wolfram syndrome, Science, Mutant, Retinal ganglion, Gene Knockout Techniques, 03 medical and health sciences, 631/208, 0302 clinical medicine, Atrophy, Downregulation and upregulation, Internal medicine, Genetics, medicine, Animals, Eye diseases, Zebrafish, 030304 developmental biology, 0303 health sciences, Multidisciplinary, biology, Endoplasmic reticulum, article, Membrane Proteins, Wolfram Syndrome, medicine.disease, biology.organism_classification, 3. Good health, Disease Models, Animal, Optic Atrophy, Endocrinology, Codon, Nonsense, Mutation, Unfolded Protein Response, Unfolded protein response, 692/699/3161, Medicine, 030217 neurology & neurosurgery

وصف الملف: application/zip; application/pdf; text/xml; application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/tiff

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a03ad437b5fae7ab92706cc925fb86Test
https://www.repository.cam.ac.uk/handle/1810/329488Test

المؤلفون: Michio Hirano, Mamta Giri, Ana Cotta, Hanns Lochmüller, Angela Pyle, Julia Filardi Paim, Matthew J. Jennings, Veronika Boczonadi, Jennifer Duff, Andreas Roos, Helen Griffin, Vamsi K. Mootha, Aurora Gomez-Duran, Adela Della Marina, Eric P Hoffmann, Joanna Poulton, Michael G. Hanna, Robert D S Pitceathly, Kristine Chapman, Juliane S Müller, Kairit Joost, Denisa Hathazi, Claudia Calabrese, Benjamin Munro, Sarah F Pearce, Salvatore DiMauro, Monica Machado Navarro, Michal Minczuk, Mar Tulinius, Wei Wei, Serenella Servidei, Michele Giunta, Christopher A. Powell, Johanna Uusimaa, Rita Horvath, Andre Mattman, Patrick F. Chinnery, Ulrike Schara

المساهمون: Powell, Christopher [0000-0001-7501-0586], Joost, Kairit [0000-0003-2544-3230], Minczuk, Michal [0000-0001-8242-1420], Chinnery, Patrick F [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: The EMBO Journal

مصطلحات موضوعية: Male, Proteomics, reversible infantile respiratory chain deficiency, Mitochondrial Diseases, Medizin, Gene Expression, medicine.disease_cause, igenic inheritance, digenic inheritance, Quadriceps Muscle, 0302 clinical medicine, Mitochondrial myopathy, Membrane & Intracellular Transport, 0303 health sciences, Mutation, tRNA Methyltransferases, General Neuroscience, Mitochondrial Myopathies, Articles, Digenic inheritance, Penetrance, 3. Good health, Mitochondria, Pedigree, homoplasmic tRNA mutation, Female, medicine.medical_specialty, Mitochondrial DNA, Adolescent, Mitochondrial disease, Biology, DNA, Mitochondrial, General Biochemistry, Genetics and Molecular Biology, Article, Cell Line, Mitochondrial Proteins, 03 medical and health sciences, Lipid oxidation, Internal medicine, medicine, Humans, Molecular Biology, 030304 developmental biology, General Immunology and Microbiology, mitochondrial myopathy, Infant, medicine.disease, Endocrinology, Metabolism, Mitochondrial biogenesis, 030217 neurology & neurosurgery

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7702b627553ef1fc91f44444ca1ad45dTest
http://europepmc.org/articles/PMC7705457Test

المؤلفون: Michele Giunta, Hanns Lochmueller, Monica Machado Navarro, Denisa Hathazi, Sarah F Pearce, Serenella Servidei, Michal Minczuk, Manta Giri, Christopher A. Powell, Vamsi K. Mootha, Juliane S Mueller, Claudia Calabrese, Benjamin Munro, Rita Horvath, Veronika Boczonadi, Matthew J. Jennings, Ana Cotta, Andreas Roos, Eric P Hoffmann, Angela Pyle, Michael G. Hanna, Mar Tulinius, Michio Hirano, Wei Wei, Joanna Poulton, Kristine Chapman, Julia Filardi Paim, Robert D S Pitceathly, Helen Griffin, Andre Mattmann, Aurora Gomez-Duran, Johanna Uusima, Ulrike Schara, Kairit Joost, Jennifer Duff, Salvatore DiMauro, Patrick F. Chinnery

مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Mutation, Mitochondrial DNA, Mitochondrial translation, Catabolism, Mitochondrial disease, Biology, medicine.disease_cause, medicine.disease, Penetrance, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Mitochondrial myopathy, Mitochondrial biogenesis, Internal medicine, medicine, 030217 neurology & neurosurgery, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df47fd8ee77de56e35ac6c2738539029Test

المؤلفون: Gavin Hudson, Mauro Santibanez-Koref, Hannah Lowes, Angela Pyle

المصدر: Molecular Neurodegeneration
Molecular Neurodegeneration, Vol 15, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Parkinson's disease, Neurology, Short Report, Circulating cell-free mitochondrial DNA, Disease, lcsh:Geriatrics, DNA, Mitochondrial, lcsh:RC346-429, Sepsis, Antiparkinson Agents, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Internal medicine, medicine, Humans, Neurodegeneration, Molecular Biology, lcsh:Neurology. Diseases of the nervous system, Depression (differential diagnoses), business.industry, Parkinson Disease, Biomarker, medicine.disease, Molecular medicine, 3. Good health, lcsh:RC952-954.6, 030104 developmental biology, Parkinson’s disease, Biomarker (medicine), Neurology (clinical), business, Cell-Free Nucleic Acids, 030217 neurology & neurosurgery, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d80d18abaef58575369eb67c19e75d8bTest
http://europepmc.org/articles/PMC7029508Test

المؤلفون: Joanna L. Elson, Ilse S. Pienaar, Gavin Hudson, Christopher Morris, Alexander G. Bury, Laura C. Greaves, Angela Pyle

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Mitochondrial DNA, MtDNA depletion, Oxidative phosphorylation, Disease, Biology, DNA, Mitochondrial, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Pedunculopontine Tegmental Nucleus, medicine, Humans, Cholinergic neuron, Aged, Pedunculopontine nucleus, Aged, 80 and over, Dopaminergic, Parkinson Disease, Cholinergic Neurons, 030104 developmental biology, Endocrinology, Neurology, nervous system, Cholinergic, Female, Neurology (clinical), Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b979251610e7fd0640c5ea841533a389Test

المؤلفون: Helen Griffin, Thalia Antoniadi, Venkateswaran Ramesh, Rita Horvath, Teresinha Evangelista, Mark Greenslade, Anna Bradshaw, Edit Franko, Stephanie Kleinle, Hanns Lochmüller, Patrick F. Chinnery, B Bansagi, Hannah E. Steele, Natalie Forester, James Miller, Angela Pyle, Roger G. Whittaker, Veronika Boczonadi, Jennifer Duff

المساهمون: Chinnery, Patrick [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: Neurology

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Neuromuscular transmission, Neural Conduction, Electromyography, Disease, Article, Connexins, GTP Phosphohydrolases, Cohort Studies, Mitochondrial Proteins, 03 medical and health sciences, Genetic Heterogeneity, Young Adult, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Internal medicine, Medicine, Humans, Young adult, Exome sequencing, Aged, Family Health, Analysis of Variance, medicine.diagnostic_test, Genetic heterogeneity, business.industry, Middle Aged, 3. Good health, 030104 developmental biology, England, Mutation, Demyelinating motor neuropathy, Female, Neurology (clinical), business, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery, Myelin Proteins, Cohort study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3336587dc8fac66b450556b0f38426daTest
https://www.repository.cam.ac.uk/handle/1810/298183Test

المؤلفون: Marzena Kurzawa-Akanbi, Hannah Lowes, Angela Pyle, Rebecca R. Brennan, Alison J. Yarnall, David J. Burn, Gavin Hudson

المصدر: Movement Disorders. 31:1923-1924

مصطلحات موضوعية: 0301 basic medicine, Oncology, Gerontology, medicine.medical_specialty, Mitochondrial DNA, Parkinson's disease, business.industry, Mitochondrion, medicine.disease, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, Neurology, chemistry, Internal medicine, medicine, Biomarker (medicine), Neurology (clinical), business, 030217 neurology & neurosurgery, Depression (differential diagnoses), DNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5b4661a5be90a5316c41d5d9af309d0fTest
https://doi.org/10.1002/mds.26825Test

المؤلفون: Stephen Lynn, Patrick F. Chinnery, Lynsey M. Cree, Mark Walker, Sheila K Patel, Angela Pyle, Douglass M. Turnbull

المصدر: Diabetologia. 51:1440-1443

مصطلحات موضوعية: Adult, Aging, medicine.medical_specialty, Mitochondrial DNA, Adolescent, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Respiratory chain, Biology, DNA, Mitochondrial, Polymerase Chain Reaction, law.invention, Islets of Langerhans, law, Internal medicine, Prevalence, Internal Medicine, medicine, Humans, Polymerase chain reaction, Aged, DNA Primers, Sequence Deletion, geography, geography.geographical_feature_category, Pancreatic islets, Insulin, Middle Aged, Islet, Endocrinology, medicine.anatomical_structure, Diabetes Mellitus, Type 2, Beta cell, Pancreas

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dc7fa6e09d81ae5524bc64a9acc4fd7Test
https://doi.org/10.1007/s00125-008-1054-4Test

المؤلفون: David Saunders, Jayne Poynter, Joanna L. Elson, Watcharee Tiangyou, Sharon Keers, Douglass M. Turnbull, Patrick F. Chinnery, Neil Howell, Angela Pyle, Simon Baudouin

المصدر: The Lancet. 366:2118-2121

مصطلحات موضوعية: Male, medicine.medical_specialty, Mitochondrial DNA, Haplogroup H, Biology, DNA, Mitochondrial, Haplogroup, law.invention, Sepsis, law, Internal medicine, medicine, Humans, Prospective Studies, APACHE, Aged, Genetics, Haplotype, Case-control study, General Medicine, Middle Aged, medicine.disease, Intensive care unit, Intensive Care Units, Logistic Models, Haplotypes, Case-Control Studies, Bacteremia, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6320eac8fe04898e823e8a71cb3f316dTest
https://doi.org/10.1016/s0140-6736Test(05)67890-7

المؤلفون: Aurora Gomez-Duran, Mar Tulinius, Angela Pyle, Rita Horvath, Veronika Boczonadi, Patrick F. Chinnery, Paul M. Smith, Ulrike Schara

المساهمون: Chinnery, Patrick [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

مصطلحات موضوعية: medicine.medical_specialty, Mitochondrial Diseases, Mitochondrial translation, Thiouridine, Medizin, Oxidative phosphorylation, Biology, Mitochondrion, medicine.disease_cause, Oxidative Phosphorylation, Cell Line, Mitochondrial Proteins, Myoblasts, 03 medical and health sciences, 0302 clinical medicine, RNA, Transfer, Mitochondrial Encephalomyopathies, Internal medicine, Genetics, medicine, Humans, Cysteine, Muscle, Skeletal, Molecular Biology, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, tRNA Methyltransferases, Translation (biology), General Medicine, TRNA Methyltransferases, Mitochondria, Glutamine, Endocrinology, Biochemistry, Gene Expression Regulation, Protein Biosynthesis, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51692b79bf5b73dc15d716f5bf962098Test
https://www.repository.cam.ac.uk/handle/1810/290359Test