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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 -
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المؤلفون: Gavin Falkous, Robert McFarland, Karen Baty, Grace McMacken, Robert W. Taylor, Monika Oláhová, Sila Hopton, Chiara Marini-Bettolo, Ana Töpf, Francesca Rastelli, Hanns Lochmüller, Albert Z Lim
المصدر: Neuromuscular Disorders
مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial DNA, Congenital myasthenia syndromes (CMS), Adolescent, Mitochondrial translation, Biopsy, Mitochondrial disease, Biology, medicine.disease_cause, DNA, Mitochondrial, Article, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Muscle, Skeletal, Gene, Genetics (clinical), Exome sequencing, Genetics, Mutation, Muscle Weakness, Mitochondrial Myopathies, MTTY gene, medicine.disease, Mitochondria, 3. Good health, mtDNA tRNA variant, 030104 developmental biology, Neurology, Pediatrics, Perinatology and Child Health, Transfer RNA, Neurology (clinical), Muscle biopsy, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0feebd09c1156eae2c798083fe60a9feTest
http://hdl.handle.net/10230/45538Test -
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المؤلفون: Hannah, Hayhurst, Irenaeus F M, de Coo, Dorota, Piekutowska-Abramczuk, Charlotte L, Alston, Sunil, Sharma, Kyle, Thompson, Rocio, Rius, Langping, He, Sila, Hopton, Rafal, Ploski, Elzbieta, Ciara, Nicole J, Lake, Alison G, Compton, Martin B, Delatycki, Aad, Verrips, Penelope E, Bonnen, Simon A, Jones, Andrew A, Morris, David, Shakespeare, John, Christodoulou, Dorota, Wesol-Kucharska, Dariusz, Rokicki, Hubert J M, Smeets, Ewa, Pronicka, David R, Thorburn, Grainne S, Gorman, Robert, McFarland, Robert W, Taylor, Yi Shiau, Ng
المصدر: Annals of Clinical and Translational Neurology
مصطلحات موضوعية: Hydroxymethyl and Formyl Transferases, Male, Mitochondrial Diseases, Adolescent, Biopsy, Infant, Newborn, Infant, Fibroblasts, Prognosis, Mitochondria, Cohort Studies, Mitochondrial Proteins, Child, Preschool, Genomic Structural Variation, Mutation, Humans, Female, Leigh Disease, Erratum, Child, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::2cc9b423544ca3b4a32ed517a409765aTest
https://pubmed.ncbi.nlm.nih.gov/31020008Test -
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المؤلفون: Syeda T, Ahmed, Charlotte L, Alston, Sila, Hopton, Langping, He, Iain P, Hargreaves, Gavin, Falkous, Monika, Oláhová, Robert, McFarland, Doug M, Turnbull, Mariana C, Rocha, Robert W, Taylor
المصدر: Scientific Reports
مصطلحات موضوعية: Cell Nucleus, Male, Electron Transport Complex I, Mitochondrial Diseases, Biopsy, Fluoroimmunoassay, Fluorescent Antibody Technique, NADH Dehydrogenase, DNA, Mitochondrial, Oxidative Phosphorylation, Article, Mitochondria, Genetic Heterogeneity, Child, Preschool, Mutation, Humans, Female, Child, Muscle, Skeletal
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::0c05f692b046b2586c3c841300f2608bTest
https://pubmed.ncbi.nlm.nih.gov/29142257Test