المؤلفون: Surita Meldau, Sally Ackermann, Gillian Riordan, George F. van der Watt, Careni Spencer, Sharika Raga, Kashief Khan, Dee M. Blackhurst, Francois H. van der Westhuizen

المصدر: Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101078- (2024)

مصطلحات موضوعية: MT-DN6, Leigh syndrome, Novel mtDNA variant, Complex I deficiency, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000314; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/9892e44912304e90a1a247108609ce21

المؤلفون: Martins, Sara, Santos, Maria João, Teixeira, Márcia, Diogo, Luisa, Macário, Maria do Carmo, Pedro Marques, João, Fonseca, Pedro, Grazina, Manuela

مصطلحات موضوعية: High-resolution melting, LHON, idebenone, mtDNA variant, real-time PCR, theranostics

Relation: #PLACEHOLDER_PARENT_METADATA_VALUE#; CENTRO-01-0145-FEDER-000012-N2323 (HealthyAging2020); info:eu-repo/grantAgreement/POCI‐01‐0145‐FEDER-007440/PT; info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UID/NEU/04539/2019/PT; info:eu-repo/grantAgreement/FCT/FARH/SFRH/BD/86622/2012/PT/ESTABLISHING THE PATHOGENECITY OF NOVEL MITOCHONDRIAL DNA MUTATIONS: A CELL AND MOLECULAR BIOLOGY APPROACH; info:eu-repo/grantAgreement/FCT/6820 - DCRRNI ID/PEst-C/SAU/LA0001/2013/PT/Strategic Project - LA 1 - 2013-2014; http://hdl.handle.net/10316/105249

الاتاحة: http://hdl.handle.net/10316/105249
https://doi.org/10.1016/j.mito.2023.01.006

المؤلفون: Shen, Lishuang, Falk, Marni J, Gai, Xiaowu

المصدر: Curr Protoc ; ISSN:2691-1299 ; Volume:4 ; Issue:1

مصطلحات موضوعية: exomiser, heteroplasmy, human phenotype ontology (HPO), mitochondrial disease diagnosis, mitochondrial disease variant (MDV) classifier, mtDNA variant, whole exome sequencing (WES)

Relation: https://doi.org/10.1002/cpz1.955; https://pubmed.ncbi.nlm.nih.gov/38284225; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11046528/

الاتاحة: https://doi.org/10.1002/cpz1.955
https://pubmed.ncbi.nlm.nih.gov/38284225
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11046528/

المؤلفون: Hellebrekers, D., Blakely, E.L., Hendrickx, A.T., Hardy, S.A., Hopton, S., Falkous, G., de Coo, I.F., Smeets, H.J.T. (Hubert J.), van der Beek, N.M.E., Taylor, R.W. (Robert William)

المصدر: Neuromuscular Disorders vol. 29 no. 9, pp. 693-697

مصطلحات موضوعية: Mitochondrial disease, Chronic progressive external ophthalmoplegia, Myopathy, mtDNA variant, m.4414T>C, MTTM

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/120465; urn:hdl:1765/120465

الاتاحة: http://repub.eur.nl/pub/120465
https://doi.org/10.1016/j.nmd.2019.08.005

المؤلفون: Céline Bris, David Goudenege, Valérie Desquiret-Dumas, Majida Charif, Estelle Colin, Dominique Bonneau, Patrizia Amati-Bonneau, Guy Lenaers, Pascal Reynier, Vincent Procaccio

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: mitochondria, mitochondrial diseases, mitochondrial DNA, next generation sequencing, bioinformatics, mtDNA variant interpretation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2018.00632/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/310db698a9ac4544889cbec4741e0c7f

المؤلفون: Sudjarwo Sudjarwo

المصدر: Journal of Biological Researches, Vol 11, Iss 2, Pp 173-177 (2012)

مصطلحات موضوعية: hydrogen peroxide, T16189C mtDNA variant, sperm motility, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://berkalahayati.org/journal/b69b9cb8; https://doaj.org/toc/0852-6834; https://doaj.org/toc/2337-389X

URL الوصول: https://doaj.org/article/c66aa9e94db64fb4a7da6dc2b74bc680

المؤلفون: Nguyen, Doan Nhu

مصطلحات موضوعية: mtDNA-variant, metabolomics, biomarkers, mitochondrial disease

Relation: http://hdl.handle.net/10852/114420

الاتاحة: http://hdl.handle.net/10852/114420

المؤلفون: Kenneth McWilliam, Alison Cozens, Emma L. Blakely, Gavin Falkous, Albert Z Lim, Robert McFarland, Robert W. Taylor, Karen Baty, Sila Hopton, Langping He

المصدر: Mitochondrion

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Mitochondrial DNA, RNA, Transfer, Met, RNA, Mitochondrial, Mitochondrial disease, Myopathy, Respiratory chain, Biology, DNA, Mitochondrial, Article, Basal Ganglia, 03 medical and health sciences, 0302 clinical medicine, Seizures, medicine, Cytochrome c oxidase, Humans, Point Mutation, Child, Molecular Biology, Gene, MTTM, Muscle biopsy, medicine.diagnostic_test, Basal ganglia changes, mtDNA variant, Mitochondrial Myopathies, Cell Biology, medicine.disease, Heteroplasmy, 3. Good health, 030104 developmental biology, biology.protein, Molecular Medicine, Female, medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::757f63fe3f8ab334fb945fc58c789630
http://europepmc.org/articles/PMC6617384

المؤلفون: Magli C, Saverio Vicario, Donata Luiselli, Martin Lang, De Fanti S, Domenico Simone, Giovanni Romeo, Luca Gianaroli

المساهمون: De Fanti, S, Vicario, S, Lang, M, Simone, D, Magli, C, Luiselli, D, Gianaroli, L, Romeo, G.

المصدر: Human reproduction (Oxf., Online) (2017): 1–8. doi:10.1093/humrep/dex051
info:cnr-pdr/source/autori:De Fanti, Sara; Vicario, Saverio; Lang, Martin; Simone, Domenico; Magli, Cristina; Luiselli, Donata; Gianaroli, Luca; Romeo, Giovanni/titolo:Intra-individual purifying selection on mitochondrial DNA variants during human oogenesis./doi:10.1093%2Fhumrep%2Fdex051/rivista:Human reproduction (Oxf., Online)/anno:2017/pagina_da:1/pagina_a:8/intervallo_pagine:1–8/volume

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, Biology, medicine.disease_cause, Genome, 03 medical and health sciences, Negative selection, symbols.namesake, 0302 clinical medicine, medicine, human oocyte, heteroplasmy, Selection (genetic algorithm), Genetics, Whole Genome Amplification, Sanger sequencing, Mutation, human oocytes, first and second polar body, Rehabilitation, mtDNA variant, Obstetrics and Gynecology, Original Articles, Heteroplasmy, mtDNA variants, 030104 developmental biology, Reproductive Medicine, symbols, purifying selection, 030217 neurology & neurosurgery

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39b9e3a43f38fd2d5f49b87a14135b6f
https://europepmc.org/articles/PMC5850138/

المؤلفون: Chun Shi Lin, Douglas C. Wallace, Prasanth Potluri, Antonio Davila, Maria Lvova, Vincent Procaccio, Hakon Hakonarson, Jiangwen Zhang, Pawel Golik, Eric F. Rappaport, Ryan Golhar, Martin Picard, Juan C. Perin, Shawn Levy, Saege Hancock, Ian A. Trounce, Olga Derbeneva, Sean O’Hearn

المساهمون: University of Pennsylvania [Philadelphia], The University of Hong Kong (HKU), University of Warsaw (UW), HudsonAlpha Institute for Biotechnology [Huntsville, AL], Children’s Hospital of Philadelphia (CHOP ), Royal Victorian Eye and Ear Hospital, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)

المصدر: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2014, 111 (38), pp.E4033-E4042. ⟨10.1073/pnas.1414028111⟩

مصطلحات موضوعية: Mitochondrial DNA, RNA, Transfer, Leu, Nuclear gene, Transcription, Genetic, [SDV]Life Sciences [q-bio], Mitochondrial disease, Mutant, Mitochondrion, Biology, DNA, Mitochondrial, Epigenesis, Genetic, 03 medical and health sciences, 0302 clinical medicine, Cell Line, Tumor, medicine, Humans, Point Mutation, RNA-Seq, RNA, Messenger, Gene, 030304 developmental biology, Genetics, 0303 health sciences, Multidisciplinary, electron microscopy, Sequence Analysis, RNA, mtDNA variant, Genetic Diseases, Inborn, medicine.disease, Molecular biology, Heteroplasmy, Mitochondria, Nuclear DNA, mitochondrial disease, PNAS Plus, Glycolysis, epigenetic, 030217 neurology & neurosurgery, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce64dd26ea07094367e617f09d32c145
https://doi.org/10.1073/pnas.1414028111

المؤلفون: Bertolin, Cinzia, Magri, Chiara, Barlati, Sergio, Vettori, Andrea, Perini, Giulia Ida, Peruzzi, Pio, Mostacciuolo, Maria Luisa, Vazza, Giovanni

المساهمون: Bertolin, Cinzia, Magri, Chiara, Barlati, Sergio, Vettori, Andrea, Perini, Giulia Ida, Peruzzi, Pio, Mostacciuolo, Maria Luisa, Vazza, Giovanni

مصطلحات موضوعية: bipolar disorder, mtDNA variant, schizophrenia, Cohort Studie, Genetic Predisposition to Disease, Human, Phylogeny, Point Mutation, DNA, Mitochondrial, Genome

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/21993419; info:eu-repo/semantics/altIdentifier/wos/WOS:000298628600012; volume:56; issue:12; firstpage:869; lastpage:872; numberofpages:4; journal:JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11562/1011071; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84255200647

الاتاحة: http://hdl.handle.net/11562/1011071
https://doi.org/10.1038/jhg.2011.111

المؤلفون: Yuri V. Bobryshev, Vasily V. Sinyov, V.A. Barinova, Andrey V. Zhelankin, Anton Y. Postnov, Alexander N. Orekhov, Z.B. Khasanova, Margarita A. Sazonova, Igor A. Sobenin

المصدر: Data in Brief, Vol 7, Iss, Pp 1570-1575 (2016)
Data in Brief

مصطلحات موضوعية: 0301 basic medicine, Carotid atherosclerosis, Genetics, Mitochondrial DNA, Multidisciplinary, Asymptomatic atherosclerosis, mtDNA variant, 030105 genetics & heredity, Biology, lcsh:Computer applications to medicine. Medical informatics, Asymptomatic, 03 medical and health sciences, 030104 developmental biology, Mitochondrial genome, Healthy individuals, medicine, Pyrosequencing, lcsh:R858-859.7, In patient, medicine.symptom, lcsh:Science (General), Data Article, lcsh:Q1-390, Homoplasmic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::936f8ecb367ef2be5c52900cada361b6