المؤلفون: Auke B. C. Otten, Rick Kamps, Patrick Lindsey, Mike Gerards, Hélène Pendeville-Samain, Marc Muller, Florence H. J. van Tienen, Hubert J. M. Smeets

المصدر: Frontiers in Cell and Developmental Biology, Vol 8 (2020)

مصطلحات موضوعية: mtDNA bottleneck, zebrafish embryogenesis, OXPHOS deficiency, transcriptomics, TFAM, mitochondria, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fcell.2020.00381/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/56a43e3547e342d7b74b4a094a8b8491Test

المؤلفون: Diana Bahhir, Cagri Yalgin, Liina Ots, Sampsa Järvinen, Jack George, Alba Naudí, Tatjana Krama, Indrikis Krams, Mairi Tamm, Ana Andjelković, Eric Dufour, Jose M González de Cózar, Mike Gerards, Mikael Parhiala, Reinald Pamplona, Howard T Jacobs, Priit Jõers

المصدر: PLoS Genetics, Vol 15, Iss 10, p e1008410 (2019)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/c367ecdb264e415a939fdddc23efbe38Test

المؤلفون: Tom E. J. Theunissen, Minh Nguyen, Rick Kamps, Alexandra T. Hendrickx, Suzanne C. E. H. Sallevelt, Ralph W. H. Gottschalk, Chantal M. Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst-Hofstee, Marianne de Visser, Jo Vanoevelen, Radek Szklarczyk, Mike Gerards, Irenaeus F. M. de Coo, Debby M. E. I. Hellebrekers, Hubert J. M. Smeets

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: mitochondrial disease, next-generation sequencing, mtDNA sequencing, whole-exome sequencing, diagnostic yield, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2018.00400/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/47cd824c9ce44759b3f813412a4b8eb1Test

المؤلفون: Auke B.C. Otten, Tom E.J. Theunissen, Josien G. Derhaag, Ellen H. Lambrichs, Iris B.W. Boesten, Marie Winandy, Aafke P.A. van Montfoort, Katsiaryna Tarbashevich, Erez Raz, Mike Gerards, Jo M. Vanoevelen, Bianca J.C. van den Bosch, Marc Muller, Hubert J.M. Smeets

المصدر: Cell Reports, Vol 16, Iss 3, Pp 622-630 (2016)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S221112471630763XTest; https://doaj.org/toc/2211-1247Test

الوصول الحر: https://doaj.org/article/1bd81a4cf5ce496a83cbe54fef730c28Test

المؤلفون: Tom E. J. Theunissen, Mike Gerards, Debby M. E. I. Hellebrekers, Florence H. van Tienen, Rick Kamps, Suzanne C. E. H. Sallevelt, Elvira N. M. M.-D. Hartog, Hans R. Scholte, Robert M. Verdijk, Kees Schoonderwoerd, Irenaeus F. M. de Coo, Radek Szklarczyk, Hubert J. M. Smeets

المصدر: Frontiers in Molecular Neuroscience, Vol 10 (2017)

مصطلحات موضوعية: high-fat diet, palmitic acid, complex I deficiency, TMEM126B, assembly factors, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://journal.frontiersin.org/article/10.3389/fnmol.2017.00336/fullTest; https://doaj.org/toc/1662-5099Test

الوصول الحر: https://doaj.org/article/0add165ba1894e8ebb9f94e220e1530bTest

المؤلفون: Tom EJ Theunissen, Radek Szklarczyk, Mike Gerards, Debby MEI Hellebrekers, Elvira NM Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S Lane Rutledge, Thomas Schmitt-Mechelke, Carola GM van Berkel, Marjo S van der Knaap, Irenaeus FM de Coo, Hubert JM Smeets

المصدر: Frontiers in Neurology, Vol 7 (2016)

مصطلحات موضوعية: brain MRI, CLPP, genetic diagnosis, Perrault syndrome, Perrault syndrome type 3, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://journal.frontiersin.org/Journal/10.3389/fneur.2016.00203/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/769aa808d8e0462fa537e50627b5aa26Test

المؤلفون: Bob P.H. Engelen, Florence H J van Tienen, Debby M.E.I. Hellebrekers, Le Guo, Irene M.G.M. Hemel, Mike Gerards, Farah Sadeghi-Niaraki, Maaike Vreeburg, Irenaeus F.M. de Coo, Suzanne C E H Sallevelt, Ed H Jacobs, Hubert J.M. Smeets

المساهمون: Clinical Genetics, Toxicogenomics, RS: MHeNs - R3 - Neuroscience, Genetica & Celbiologie, RS: FSE MaCSBio, RS: FPN MaCSBio, Maastricht Centre for Systems Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9), RS: FHML MaCSBio

المصدر: Eur J Hum Genet
European Journal of Human Genetics, 29(12), 1789-1795. Nature Publishing Group

مصطلحات موضوعية: Male, Mitochondrial encephalomyopathy, PROTEIN, Genes, Recessive, Compound heterozygosity, Article, Frameshift mutation, Electron Transport Complex IV, POLYADENYLATION, Mitochondrial Encephalomyopathies, Complementary DNA, Genetics, medicine, Humans, Citrate synthase, Child, Cells, Cultured, Genetics (clinical), Exome sequencing, Electron Transport Complex I, biology, RNA-Binding Proteins, RNA, Fibroblasts, medicine.disease, Molecular biology, LRPPRC, Mutation, RNA splicing, biology.protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d946d81b0700203f262fe3352159387bTest
https://doi.org/10.1038/s41431-021-00947-1Test

المؤلفون: Irenaeus F.M. de Coo, Periyasamy Govindaraj, Bindu Parayil Sankaran, Hubert J.M. Smeets, Mariëlle T Kievit, Alphons P. M. Stassen, Arun B Taly, Mike Gerards, Le Guo, Narayanappa Gayathri, Debby M.E.I. Hellebrekers

المساهمون: RS: MHeNs - R3 - Neuroscience, Genetica & Celbiologie, Toxicogenomics, RS: FSE MaCSBio, RS: FPN MaCSBio, RS: FHML MaCSBio, Maastricht Centre for Systems Biology, MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine

المصدر: Neuromuscular Disorders, 31(9), 859-864. Elsevier Science

مصطلحات موضوعية: Genetics, C1QBP gene, Progressive external ophthalmoplegia, External ophthalmoplegia, technology, industry, and agriculture, Cardiomyopathy, Whole exome sequencing, macromolecular substances, Biology, VARIANTS, medicine.disease, MITOCHONDRIAL, Neurology, CELL-METABOLISM, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Mitochondrial homeostasis, Age of onset, Multiple mtDNA deletions, Gene, Genetics (clinical), Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::357f91dc2cead553b9f9f799706e0b72Test
https://doi.org/10.1016/j.nmd.2021.06.014Test

المؤلفون: Bob P.H. Engelen, Nicole Luber, Mike Gerards, Irene M.G.M. Hemel

المساهمون: Maastricht Centre for Systems Biology, RS: FSE MaCSBio, RS: FPN MaCSBio, RS: FHML MaCSBio

المصدر: Mitochondrion, 59, 216-224. ELSEVIER SCI LTD

مصطلحات موضوعية: Dynamins, 0301 basic medicine, DYNAMICS, Spectrum analyzer, Computer science, DRP1, OPA1, GTP Phosphohydrolases, Image analysis, Mitochondrial Proteins, 03 medical and health sciences, Mitochondrial quantification, 0302 clinical medicine, FUSION, Image Processing, Computer-Assisted, Humans, Gene Regulatory Networks, Cluster analysis, Molecular Biology, Cells, Cultured, business.industry, NETWORK MORPHOLOGY, Membrane Proteins, Pattern recognition, Cell Biology, QUANTITATIVE-ANALYSIS, FISSION, Thresholding, Mitochondrial morphology, ImageJ, Mitochondria, 030104 developmental biology, Open source, Gene Knockdown Techniques, Mitochondrial dynamics, Molecular Medicine, FIS1, MITOPHAGY, Artificial intelligence, business, Software, 030217 neurology & neurosurgery, HeLa Cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c388b10170bfc04a0e4a719c86e28fbeTest
https://doi.org/10.1016/j.mito.2021.06.005Test

المؤلفون: Rita Sarantidou, Mike Gerards, Irene M.G.M. Hemel

المساهمون: Maastricht Centre for Systems Biology, RS: FSE MaCSBio, RS: FPN MaCSBio, RS: FHML MaCSBio

المصدر: International Journal of Biochemistry & Cell Biology, 141:106101. Elsevier Limited

مصطلحات موضوعية: ER-mitochondrial contact, Tethering, Chemistry, Dynamics (mechanics), ENDOPLASMIC-RETICULUM, Cell Biology, Mitochondrion, FISSION, Biochemistry, GTP Phosphohydrolases, Cell biology, Mitochondrial Proteins, Mitochondrial membrane constriction, Mitochondrial Membranes, Mitochondrial dynamics, Inner membrane, Mitochondrial fission, Inner mitochondrial membrane

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::617b49f37ecbe45a7580d71b7290c717Test
https://doi.org/10.1016/j.biocel.2021.106101Test