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1دورية 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
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المؤلفون: Virginie Petel Légaré, Christian J. Rampal, Tyler J. N. Gurberg, Mari J. Aaltonen, Alexandre Janer, Lorne Zinman, Eric A. Shoubridge, Gary A. B. Armstrong
المصدر: Developmental Neurobiology. 83:54-69
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Developmental Neuroscience
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المؤلفون: Alexandre Janer, Jordan L. Morris, Michiel Krols, Hana Antonicka, Mari J. Aaltonen, Zhen-Yuan Lin, Anne-Claude Gingras, Julien Prudent, Eric A. Shoubridge
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b55a63d56edb1c56765c922acd394791
https://doi.org/10.1101/2022.11.14.516495 -
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المؤلفون: Jana Schuettpelz, Alexandre Janer, Hana Antonicka, Eric A Shoubridge
المصدر: Life Science Alliance. 6:e202301914
مصطلحات موضوعية: Ecology, Health, Toxicology and Mutagenesis, Plant Science, Biochemistry, Genetics and Molecular Biology (miscellaneous)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bec0f2fa580db3df2b6825563e7361a3
https://doi.org/10.26508/lsa.202301914 -
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المؤلفون: François Ancien, Nicolas Sgarioto, Roxanne Larivière, Bernard Brais, Martje G Pauly, David-Alexandre Trégouët, Eric A. Shoubridge, Ganapathi Varma Saripella, Natalie Deininger, Marie Coutelier, Dimitri Gilis, Maxime Jacoupy, Léna Guillot-Noel, Khalid H El Hachimi, Alexandra Durr, Alexis Brice, Flore Renaud, Sabrina Sayah, G. Stevanin, Alexandre Janer, Perrine Charles, Marianne Rooman, Nicolas Auger, C. Helmchen, Isabelle Le Ber, Tobias B. Haack, Fabrizio Pucci, Rémi Valter, Astrid Nümann
المصدر: Brain : a journal of neurology. 145(4)
مصطلحات موضوعية: Genetics, Arthrogryposis, Cerebellar ataxia, Cerebellar Ataxia, Genetic heterogeneity, ATF6, Endoplasmic reticulum, Nerve Tissue Proteins, Biology, medicine.disease, Endoplasmic Reticulum Stress, Phenotype, Pedigree, C-Reactive Protein, Autosomal dominant cerebellar ataxia, Mutation, Exome Sequencing, medicine, Missense mutation, Humans, Neurology (clinical), medicine.symptom, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9d45e8d52db810db9d681eb08300544
https://pubmed.ncbi.nlm.nih.gov/34788392 -
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المؤلفون: Woranontee Weraarpachai, Anne-Claude Gingras, Eric A. Shoubridge, Alexandre Janer, Hana Antonicka, Zhen-Yuan Lin
المصدر: Cell metabolism. 32(3)
مصطلحات موضوعية: 0301 basic medicine, Gene isoform, Physiology, Mitochondrial disease, Biology, Mitochondrion, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Interaction network, Organelle, medicine, Humans, Biotinylation, Protein Interaction Maps, Molecular Biology, Mitochondrial protein, Cells, Cultured, 030304 developmental biology, 0303 health sciences, food and beverages, Cell Biology, medicine.disease, Cell biology, Mitochondria, Cytosol, 030104 developmental biology, HEK293 Cells, Bacterial outer membrane, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbb79d6494f3ede5840174f791963839
https://pubmed.ncbi.nlm.nih.gov/32877691