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 Communications

مصطلحات 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

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

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

المؤلفون: Ruth I. C. Glasgow, Robert W. Taylor, Thomas J. Nicholls, Albert Z Lim, Robert McFarland, Monika Oláhová

مصطلحات موضوعية: Genetics, Mitochondrial DNA, Nuclear gene, Mitochondrial translation, Mitochondrial disease, Gene expression, medicine, RNA, Biology, medicine.disease, Gene, Phenotype

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::82afc1e8f86804e0115bb490e9304d3cTest
https://doi.org/10.1016/b978-0-12-819656-4.00015-2Test

المؤلفون: Monika, Oláhová, Camilla, Ceccatelli Berti, Jack J, Collier, Charlotte L, Alston, Elisabeth, Jameson, Simon A, Jones, Noel, Edwards, Langping, He, Patrick F, Chinnery, Rita, Horvath, Paola, Goffrini, Robert W, Taylor, John A, Sayer

المصدر: Human Molecular Genetics

مصطلحات موضوعية: Adult, Male, Cholestasis, Fetal Growth Retardation, Hemosiderosis, Mitochondrial Diseases, Infant, Fibroblasts, Article, Electron Transport Complex III, Phenotype, Mutation, ATPases Associated with Diverse Cellular Activities, Humans, Acidosis, Lactic, Female, Amino Acid Sequence, Renal Aminoacidurias, Muscle, Skeletal, Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::1bb7b59b38efaf07ccc69de71cdaa9abTest
https://pubmed.ncbi.nlm.nih.gov/31435670Test