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المؤلفون: Robert W. Taylor, Thomas G. McWilliams, Jack J Collier, Monika Oláhová
المصدر: Autophagy
مصطلحات موضوعية: medicine.medical_specialty, ATG8, Disease, Biology, Protein degradation, Autophagy-Related Protein 7, Nervous System, 01 natural sciences, Autophagy-Related Protein 5, Mice, Molecular genetics, Autophagy, medicine, Animals, Humans, Molecular Biology, 010405 organic chemistry, Neurodegeneration, Proteins, Cell Biology, Fibroblasts, medicine.disease, Phenotype, Autophagic Punctum, 0104 chemical sciences, Cell biology, 010404 medicinal & biomolecular chemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01fdf4e66e91dab751196c8e5409b92cTest
https://doi.org/10.1080/15548627.2021.1953267Test -
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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: 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: Kyle Thompson, Robert N. Lightowlers, Monika Oláhová, J. Heidler, Zofia M.A. Chrzanowska-Lightowlers, Robert W. Taylor, Jack J Collier, I. Wittig
المصدر: Neuromuscular Disorders. 28:S32-S33
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, CRISPR, Neurology (clinical), Biology, Genetics (clinical), Cell biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::af22af02c2767d3c94ecde40352fe11fTest
https://doi.org/10.1016/s0960-8966Test(18)30388-2 -
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المؤلفون: Monika Oláhová, Elizabeth A. Veal
المصدر: Molecular cell. 43(5)
مصطلحات موضوعية: Cell, Saccharomyces cerevisiae, Translation (biology), Cell Biology, Biology, biology.organism_classification, Sulfiredoxin, chemistry.chemical_compound, medicine.anatomical_structure, Biochemistry, chemistry, medicine, Sugar, Hydrogen peroxide, Peroxiredoxin, Molecular Biology, Thioredoxin peroxidase activity
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::093109e0351117d94714bcec4ca6921cTest
https://pubmed.ncbi.nlm.nih.gov/21884982Test