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1دورية أكاديميةA novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome
المؤلفون: Lenzini, L., Carecchio, M., Iori, E., Legati, A., Lamantea, E., Avogaro, A., Vitturi, N.
المساهمون: Università degli Studi di Padova, Ministero della Salute
المصدر: Molecular Genetics and Metabolism Reports ; volume 30, page 100830 ; ISSN 2214-4269
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100830Test
https://api.elsevier.com/content/article/PII:S2214426921001257?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426921001257?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., Moroni, I., Farina, L., Spada, M., Donati, M.A., Uziel, G., Zeviani, M.
المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics ; volume 1659, issue 2-3, page 136-147 ; ISSN 0005-2728
مصطلحات موضوعية: Cell Biology, Biochemistry, Biophysics
الإتاحة: https://doi.org/10.1016/j.bbabio.2004.09.006Test
https://api.elsevier.com/content/article/PII:S0005272804002725?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0005272804002725?httpAccept=text/plainTest -
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المؤلفون: Alan J. Robinson, Daniele Ghezzi, Isabella Moroni, Costanza Lamperti, Federica Invernizzi, Eleonora Lamantea, Massimo Zeviani, Andrea Legati, Alessia Nasca, Aurelio Reyes, Valeria Tiranti, Barbara Garavaglia, Anna Ardissone
المساهمون: Reyes Tellez, Aurelio [0000-0003-2876-2202], Robinson, Alan [0000-0001-9943-0059], Apollo - University of Cambridge Repository, Legati, A, Reyes, A, Nasca, A, Invernizzi, F, Lamantea, E, Tiranti, V, Garavaglia, B, Lamperti, C, Ardissone, A, Moroni, I, Robinson, A, Ghezzi, D, Zeviani, M
المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1857:1326-1335
مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial Diseases, Next Generation Sequencing, Gene Expression, Biochemistry, Cohort Studies, 0302 clinical medicine, Mitochondrial Disease, Exome, Child, Exome sequencing, Genetics, Electron Transport Chain Complex Protein, Homozygote, High-Throughput Nucleotide Sequencing, Penetrance, Mitochondrial, Mitochondrial disorder, Mitochondria, Child, Preschool, Female, Human, E4F1, Mitochondrial disorders, Whole Exome sequencing, Adolescent, Amino Acid Sequence, DNA, Mitochondrial, Electron Transport, Electron Transport Chain Complex Proteins, Heterozygote, Humans, Infant, Molecular Sequence Data, Repressor Proteins, Sequence Alignment, Young Adult, Mutation, Mitochondrial DNA, Nuclear gene, Ubiquitin-Protein Ligases, Mitochondrial disease, Biophysics, Biology, DNA sequencing, 03 medical and health sciences, Genetic linkage, medicine, Preschool, DNA, Cell Biology, Repressor Protein, medicine.disease, 030104 developmental biology, Biophysic, Cohort Studie, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec2f897bc20a44592f030d368526d324Test
https://doi.org/10.1016/j.bbabio.2016.02.022Test
