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المؤلفون: Kimia Kahrizi, Tomáš Mráček, Hector Diaz-Maldonado, Maria Falkenberg, Safoora B. Syeda, Penelope E. Bonnen, Stanislav Kmoch, Peter B. Kang, Zuzana Korandová, Emily Hoberg, Bradley Peter, Lauren Brady, K. Nicole Weaver, Louis M. Kunkel, Alena Pecinová, Mark A. Tarnopolsky, Zsolt Szilagyi, Hossein Najmabadi, Meenakshi Singh, Ewen W. Sommerville, Sasigarn A. Bowden, Elicia Estrella, Kim L. McBride, Hans-Hilger Ropers, Grainne S. Gorman, Emma L. Blakely, Claes M. Gustafsson, Viktor Stránecký, Christine C. Bruels, Monika Oláhová, Sander Pajusalu, Carlos E. Prada, Jack J Collier, Katrin Õunap, Lynn Pais, Hana Hartmannová, Monica H. Wojcik, Robert W. Taylor, Anthony J. Bleyer
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Nature Communicationsمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Mitochondrial DNA, Adolescent, Transcription, Genetic, POLRMT, Science, General Physics and Astronomy, Biology, DNA, Mitochondrial, Article, Oxidative Phosphorylation, General Biochemistry, Genetics and Molecular Biology, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Protein Domains, Transcription (biology), RNA polymerase, Genetics, Humans, RNA, Messenger, Child, Polymerase, Multidisciplinary, Massive parallel sequencing, Molecular medicine, Infant, DNA-Directed RNA Polymerases, General Chemistry, Fibroblasts, Phenotype, Mitochondria, Pedigree, Protein Subunits, 030104 developmental biology, Neurology, chemistry, Mutation, biology.protein, Female, Nervous System Diseases, 030217 neurology & neurosurgery, DNA, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d3cd65a0bc920d80c2e2a494ae76dafTest
https://doaj.org/article/35895711cd76476484b7067a5177046aTest -
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المصدر: EMBO Molecular Medicine, Vol 13, Iss 12, Pp n/a-n/a (2021)
EMBO Molecular Medicineمصطلحات موضوعية: Programmed cell death, autophagy, Medicine (General), ved/biology.organism_classification_rank.species, Reviews, Apoptosis, Review, Disease, Biology, QH426-470, Autophagy-Related Protein 7, 03 medical and health sciences, 0302 clinical medicine, R5-920, medicine, therapeutics, Genetics, Humans, Child, Model organism, 030304 developmental biology, 0303 health sciences, disease, ved/biology, Effector, Neurodegeneration, Autophagy, neurodegeneration, Cell cycle, medicine.disease, 3. Good health, Molecular Medicine, Autophagy & Cell Death, ATG7, Human Pathology, Neuroscience, 030217 neurology & neurosurgery, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf56897c431c000f485f09c9f79ba8d2Test
https://doaj.org/article/0925a012019a43c79630e3d05adcb9b8Test -
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المؤلفون: Monika Oláhová, Michel Koenig, Hessa S Alsaif, Selina Reich, Claire Guissart, Silvia Azzarello-Burri, Ludger Schöls, Anita Rauch, Tuomo M Polvikoski, Pierre Meyer, Matthis Synofzik, Jack J Collier, Nicolas Leboucq, Fumi Suomi, François Rivier, Mina Ryten, Nuria Martinez-Lopez, Lise Larrieu, Suad Alyamani, Fowzan S Alkuraya, Angela Bahr, Souphatta Sasorith, Stephan Zuchner, Angela Pyle, Charu Deshpande, Inês A Barbosa, David Zhang, Andrew M. Schaefer, Thomas G McWilliams, Florence Piron-Prunier, Robert McFarland, Agnès Delahodde, Robert W. Taylor
المساهمون: Newcastle University [Newcastle], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University College of London [London] (UCL), Albert Einstein College of Medicine [New York], Universität Zürich [Zürich] = University of Zurich (UZH), University of Tübingen, University of Miami Leonard M. Miller School of Medicine (UMMSM), King‘s College London, Guy's and St Thomas' Hospital [London], Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
المصدر: The New England journal of medicine 384(25), 2406-2417 (2021). doi:10.1056/NEJMoa1915722
New England Journal of Medicine
New England Journal of Medicine, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine, Massachusetts Medical Society, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩مصطلحات موضوعية: Male, metabolism [Muscle, Skeletal], Developmental Disabilities, [SDV]Life Sciences [q-bio], medicine.disease_cause, Autophagy-Related Protein 7, physiology [Autophagy-Related Protein 7], pathology [Muscle, Skeletal], 0302 clinical medicine, genetics [Nervous System Malformations], Cerebellum, Missense mutation, ComputingMilieux_MISCELLANEOUS, Cells, Cultured, 0303 health sciences, Mutation, Atg7 protein, human, General Medicine, genetics [Ataxia], Phenotype, 3. Good health, Cell biology, genetics [Developmental Disabilities], Pedigree, Female, Intracellular, Adult, Adolescent, genetics [Autophagy], physiology [Autophagy], Mutation, Missense, Genes, Recessive, Nervous System Malformations, genetics [Abnormalities, Multiple], 03 medical and health sciences, genetics [Autophagy-Related Protein 7], medicine, Autophagy, Humans, Abnormalities, Multiple, Computer Simulation, ddc:610, Muscle, Skeletal, Gene, 030304 developmental biology, abnormalities [Face], business.industry, Infant, Fibroblasts, Embryonic stem cell, abnormalities [Cerebellum], Face, Ataxia, Perinatal lethal, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3788ee63101da27a0b9ff3a8224c4f7Test
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المؤلفون: Eleonora Lamantea, Robert McFarland, Langping He, Alessia Nasca, Anna Ardissone, Daniele Ghezzi, Kyle Thompson, Andrea Legati, Charlotte L. Alston, Seham Alameer, Robert W. Taylor, Fahad Hakami, Monika Oláhová, Abeer Almehdar, Juliana Heidler, Ahmad Alahmad, Ilka Wittig, Jana Meisterknecht, Manuela Spagnolo
المصدر: EMBO Molecular Medicine, Vol 12, Iss 11, Pp n/a-n/a (2020)
EMBO Molecular Medicineمصطلحات موضوعية: 0301 basic medicine, Medicine (General), Mitochondrial Diseases, Mitochondrial disease, Protein subunit, NDUFC2, Oxidative phosphorylation, QH426-470, Biology, Article, Mitochondrial Proteins, 03 medical and health sciences, R5-920, 0302 clinical medicine, Complementary DNA, Genetics, medicine, Humans, Allele, Child, Alleles, Electron Transport Complex I, complex I, Articles, medicine.disease, Leigh syndrome, OXPHOS, mitochondrial disease, 030104 developmental biology, Mutation, Molecular Medicine, Genetics, Gene Therapy & Genetic Disease, Leigh Disease, Developmental regression, 030217 neurology & neurosurgery, Biogenesis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ada59065e8cb51941b837c36a5a138bTest
https://doi.org/10.15252/emmm.202012619Test -
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المؤلفون: Monika Oláhová, Jia Xin Tang, Robert W. Taylor, Kyle Thompson
المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 3820, p 3820 (2020)مصطلحات موضوعية: 0301 basic medicine, mitochondrial ACP, Mitochondrial translation, Amino Acid Motifs, Review, Oxidative Phosphorylation, lcsh:Chemistry, Mice, 0302 clinical medicine, Cytosol, Gene expression, Protein biosynthesis, lcsh:QH301-705.5, Spectroscopy, Organelle Biogenesis, biology, Chemistry, Nuclear Proteins, General Medicine, OXPHOS biogenesis, Computer Science Applications, Cell biology, Mitochondria, Acyl carrier protein, Protein Transport, mitochondrial gene expression, Transcriptional Activation, Mitochondrial DNA, Oxidative phosphorylation, OXPHOS assembly factors, DNA, Mitochondrial, Catalysis, Inorganic Chemistry, Electron Transport Complex IV, Mitochondrial Proteins, 03 medical and health sciences, Protein Domains, Species Specificity, Animals, Humans, Physical and Theoretical Chemistry, Molecular Biology, Mitochondrial protein, Cell Nucleus, Organic Chemistry, LYRM proteins, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, Gene Expression Regulation, Protein Biosynthesis, biology.protein, 030217 neurology & neurosurgery, Biogenesis, mitochondrial import
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ee29209f50eca226e3bc499c0722f81Test
http://europepmc.org/articles/PMC7312649Test -
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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: Penelope E. Bonnen, Langping He, Monika Oláhová, Garry K. Brown, Ines A. Barbosa, Erik Aznauryan, Charlotte L. Alston, Johannes Koch, John W. Yarham, Michael A. Simpson, Helen Mundy, Alex Broomfield, Ruth M. Brown, Tobias B. Haack, William C. Wilson, Charu Deshpande, Holger Prokisch, Georg M. Stettner, Julie Hall, Dorothea Moeslinger, Zofia M.A. Chrzanowska-Lightowlers, Steven A. Hardy, Robert McFarland, Robert W. Taylor, Andrew A. M. Morris, Robert N. Lightowlers
المصدر: Brain
Brain 138, 3503-3519 (2015)
Oláhová, M, Hardy, S A, Hall, J, Yarham, J W, Haack, T B, Wilson, W C, Alston, C L, He, L, Aznauryan, E, Brown, R M, Brown, G K, Morris, A A M, Mundy, H, Broomfield, A, Barbosa, I A, Simpson, M A, Deshpande, C, Moeslinger, D, Koch, J, Stettner, G M, Bonnen, P E, Prokisch, H, Lightowlers, R N, McFarland, R, Chrzanowska-Lightowlers, Z M A & Taylor, R W 2015, ' LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population ', Brain : a journal of neurology, vol. 138, no. 12, pp. 3503-3519 . https://doi.org/10.1093/brain/awv291Testمصطلحات موضوعية: Male, Candidate gene, Mitochondrial Diseases, RNA, Mitochondrial, Respiratory chain, Cytochrome-c Oxidase Deficiency, Mitochondrion, Leucine-Rich Repeat Proteins, 0302 clinical medicine, Cells, Cultured, Genetics, 0303 health sciences, education.field_of_study, 3. Good health, Neoplasm Proteins, Pedigree, LRPPRC, mitochondrial disease, Child, Preschool, malformations, Female, medicine.medical_specialty, Mitochondrial DNA, Canada, Mitochondrial disease, Population, Biology, Electron Transport Complex IV, Mitochondrial Proteins, 03 medical and health sciences, Internal medicine, medicine, Cytochrome c oxidase, Humans, RNA, Messenger, Leigh disease, education, Muscle, Skeletal, 030304 developmental biology, Cox Deficiency, Lrpprc, Leigh Syndrome, Malformations, Mitochondrial Disease, Infant, Newborn, Infant, Proteins, Original Articles, Fibroblasts, medicine.disease, Leigh syndrome, Endocrinology, Mutation, biology.protein, COX deficiency, Neurology (clinical), 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ef3f3a117edc848b627c5d07dad6678Test
http://europepmc.org/articles/PMC4655343Test