-
1دورية أكاديمية
المؤلفون: Adrien Guillaume, Vojtech Stejskal, Guillaume Smits, Dorottya Kelen
المصدر: Frontiers in Pediatrics, Vol 12 (2024)
مصطلحات موضوعية: neonatal encephalopathy, pontocerebellar hypoplasia type 1E, SLC25A46, clinical diagnosis, therapeutic strategies, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2024.1303772/fullTest; https://doaj.org/toc/2296-2360Test
-
2دورية أكاديمية
المؤلفون: Min Wang, Tianxiong Xu, Li Gao, Chujun Huang, Piao Xu, Congcong Gong, William Kwame Amakye, Linfeng Liao, Maojin Yao, Jiaoyan Ren
المصدر: Food Science and Human Wellness, Vol 12, Iss 5, Pp 1618-1625 (2023)
مصطلحات موضوعية: Mitochondria dysfunction, Ageing, Slc25a46 knockout mouse, Alzheimer’s disease, Lycium ruthenicum Murr, Nutrition. Foods and food supply, TX341-641
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2213453023000095Test; https://doaj.org/toc/2213-4530Test
-
3دورية أكاديمية
المؤلفون: Zou, Weiwei, Chen, Qixin, Slone, Jesse, Yang, Li, Lou, Xiaoting, Diao, Jiajie, Huang, Taosheng
المصدر: Journal of nanobiotechnology. 19(1)
مصطلحات موضوعية: Lysosomes, Mitochondria, Fibroblasts, Humans, Mitochondrial Diseases, Phosphate Transport Proteins, Mitochondrial Proteins, Cell Proliferation, Mutation, Mitochondrial Membranes, Mitochondrial Dynamics, Mitophagy, Cristae, Mitochondrial disease, Nanoscope, SLC25A46, Technology, Nanoscience & Nanotechnology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0s9669hsTest
-
4دورية أكاديمية
المؤلفون: Mamiko Yamada, Hisato Suzuki, Hiroyuki Adachi, Atsuko Noguchi, Fuyuki Miya, Tsutomu Takahashi, Kenjiro Kosaki
المصدر: BMC Neurology, Vol 22, Iss 1, Pp 1-5 (2022)
مصطلحات موضوعية: Pontocerebellar hypoplasia, SLC25A46, Genomic analysis, Whole genome sequencing, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2377Test
-
5دورية أكاديمية
المؤلفون: Weiwei Zou, Qixin Chen, Jesse Slone, Li Yang, Xiaoting Lou, Jiajie Diao, Taosheng Huang
المصدر: Journal of Nanobiotechnology, Vol 19, Iss 1, Pp 1-10 (2021)
مصطلحات موضوعية: Nanoscope, Mitochondrial disease, SLC25A46, Cristae, Mitophagy, Biotechnology, TP248.13-248.65, Medical technology, R855-855.5
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1477-3155Test
-
6دورية أكاديمية
المؤلفون: Wan, Jijun, Steffen, Janos, Yourshaw, Michael, Mamsa, Hafsa, Andersen, Erik, Rudnik-Schöneborn, Sabine, Pope, Kate, Howell, Katherine B, McLean, Catriona A, Kornberg, Andrew J, Joseph, Jörg, Lockhart, Paul J, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, Koehler, Carla M, Jen, Joanna C
المصدر: Brain. 139(11)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Genetics, Pediatric, Orphan Drug, Neurodegenerative, Rare Diseases, Brain Disorders, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Neurological, Amino Acids, Animals, Animals, Genetically Modified, Brain, Cell Line, Transformed, Cells, Cultured, Cerebellar Diseases, Cohort Studies, Embryo, Nonmammalian, Female, Genetic Predisposition to Disease, Humans, Infant, Magnetic Resonance Imaging, Male, Mitochondria, Mitochondrial Dynamics, Mitochondrial Proteins, Models, Molecular, Mutation, Phosphate Transport Proteins, Polymorphism, Single Nucleotide, Zebrafish, pontocerebellar hypoplasia, SLC25A46, mitochondria, optic atrophy spectrum disorder, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences, Psychology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0b77c7szTest
-
7دورية أكاديمية
المؤلفون: Qifei Li, Jill A. Madden, Jasmine Lin, Jiahai Shi, Samantha M. Rosen, Klaus Schmitz-Abe, Pankaj B. Agrawal
المصدر: Journal of Personalized Medicine; Volume 11; Issue 12; Pages: 1277
مصطلحات موضوعية: SLC25A46, mitochondria, optic atrophy, Leigh syndrome, reanalysis
وصف الملف: application/pdf
العلاقة: Mechanisms of Diseases; https://dx.doi.org/10.3390/jpm11121277Test
-
8دورية أكاديمية
المؤلفون: Santo-Domingo, Jaime, Lassueur, Esteve, Núñez Galindo, Antonio, Alvarez-Illera, Pilar, Romero-Sanz, Silvia, Caldero-Escudero, Elena, Fuente, Sergio de la, Dayon, Loïc, Wiederkehr, Andreas
المساهمون: Nestlé, CSIC-UVA - Instituto de Biología y Genética Molecular (IBGM)
مصطلحات موضوعية: Mitochondria, β-cell, Mitochondrial dynamics, Phosphorylation, Lipotoxicity, SLC25A46
العلاقة: http://dx.doi.org/10.1242/jcs.260049Test; Sí; e-issn: 1477-9137; Journal of Cell Science 136(8): jcs260049 (2023); http://hdl.handle.net/10261/337210Test
-
9دورية أكاديمية
المؤلفون: Alexandre Janer, Julien Prudent, Vincent Paupe, Somayyeh Fahiminiya, Jacek Majewski, Nicolas Sgarioto, Christine Des Rosiers, Anik Forest, Zhen‐Yuan Lin, Anne‐Claude Gingras, Grant Mitchell, Heidi M McBride, Eric A Shoubridge
المصدر: EMBO Molecular Medicine, Vol 8, Iss 9, Pp 1019-1038 (2016)
مصطلحات موضوعية: Leigh syndrome, mitochondrial architecture, phospholipid transfer, SLC25A46, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
-
10
المؤلفون: Xiaoting Lou, Li Yang, Weiwei Zou, Jiajie Diao, Qixin Chen, Taosheng Huang, Jesse Slone
المصدر: Journal of Nanobiotechnology, Vol 19, Iss 1, Pp 1-10 (2021)
Journal of Nanobiotechnologyمصطلحات موضوعية: Mitochondrial Diseases, Mitochondrial disease, Mutant, Biomedical Engineering, Pharmaceutical Science, Medicine (miscellaneous), Bioengineering, Oxidative phosphorylation, Biology, Mitochondrion, Mitochondrial Dynamics, Applied Microbiology and Biotechnology, Cristae, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Mitophagy, medicine, Medical technology, Humans, Phosphate Transport Proteins, Respiratory function, R855-855.5, Cell Proliferation, 030304 developmental biology, 0303 health sciences, Research, SLC25A46, Fibroblasts, medicine.disease, Nanoscope, Mitochondria, Cell biology, mitochondrial fusion, Mitochondrial Membranes, Mutation, Molecular Medicine, Lysosomes, 030217 neurology & neurosurgery, TP248.13-248.65, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9562f07184b8f8698f9ffc221e58fd5Test
https://doaj.org/article/39682b776d684038999e0fdedfba589dTest