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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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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: Ruth I. C. Glasgow, Kyle Thompson, Robert W. Taylor, Charlotte L. Alston, Angela Pyle, Emma L. Blakely, Robert McFarland, Fiona Robertson, Jack J Collier, Monika Oláhová
المصدر: Journal of Inherited Metabolic Disease
مصطلحات موضوعية: Mitochondrial Diseases, diagnosis, Mitochondrial disease, molecular mechanisms, Review Article, Computational biology, Biology, Proteomics, DNA sequencing, Transcriptome, 03 medical and health sciences, Unknown Significance, Exome Sequencing, Genetics, medicine, Humans, Review Articles, Genetics (clinical), Exome sequencing, 030304 developmental biology, next generation sequencing, Whole genome sequencing, 0303 health sciences, Sequence Analysis, RNA, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, medicine.disease, Omics, 3. Good health, mitochondrial disease, Molecular Diagnostic Techniques, Genome, Mitochondrial
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3711470d4fb244425707e5d85ebf5662Test
https://doi.org/10.1002/jimd.12104Test -
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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: 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: 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 -
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المؤلفون: Monika Oláhová, Jia-Xin Tang, Robert W. Taylor, Angela Pyle
المصدر: Genes, Vol 12, Iss 1604, p 1604 (2021)
Genesمصطلحات موضوعية: Mitochondrial Diseases, Mitochondrial disease, Review, Computational biology, Disease, QH426-470, Biology, Genome editing, Genetics, medicine, Humans, genome editing, CRISPR, Mitochondrial biology, CRISPR/Cas9, Gene, Genetics (clinical), cell and animal models, Gene Editing, Cas9, medicine.disease, Mitochondria, mitochondrial disease, mitochondrial biology, CRISPR-Cas Systems, genome-wide CRISPR libraries screening, Function (biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::152f67ccbd8a8446803fc7d7c6adfcc4Test
https://doi.org/10.3390/genes12101604Test -
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المؤلفون: B Bansagi, Ramesh, Andreas Roos, Hanns Lochmüller, Helen Griffin, Alan J. Robinson, Rita Horvath, Boczonadi, Filmon Eyassu, Ers Kunji, Monika Oláhová, Angela Pyle, Tuomo Polvikoski, Patrick F. Chinnery, Roger G. Whittaker, Robert W. Taylor, Christoph H. Borchers, King, Anthony C. Smith
المصدر: Genetics in Medicine. 21:2163-2164
مصطلحات موضوعية: Mitochondrial DNA, Pathology, medicine.medical_specialty, business.industry, medicine, Disease, Spinal muscular atrophy, medicine.disease, business, OXODICARBOXYLATE CARRIER, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::173d69b4dcb58bf6371c7dd1f366570bTest
https://doi.org/10.1038/s41436-019-0506-1Test -
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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
