المؤلفون: Arruda, Walter O., Torres, Luiz F. B., lombes, Anne, Dimauro, Salvatore, Cardoso, Belkiss A., Teive, Hélio A. G., Paola, Duilton de, Seixas, Ricardo R.

المصدر: Arquivos de Neuro-Psiquiatria. March 1990 48(1)

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1990000100006

المؤلفون: Sparks, Jacy, Michelassi, Francesco, Thompson, John L. P., Buchsbaum, Richard, Pires, Natacha, DeRosa, Janet T., Engelstad, Kristin, DiMauro, Salvatore, Akman, Hasan Orhan, Hirano, Michio

المساهمون: Adult Polyglucosan Body Disease Research Foundation

المصدر: Therapeutic Advances in Rare Disease ; volume 5 ; ISSN 2633-0040 2633-0040

الاتاحة: https://doi.org/10.1177/26330040241227452
https://journals.sagepub.com/doi/pdf/10.1177/26330040241227452
https://journals.sagepub.com/doi/full-xml/10.1177/26330040241227452

المؤلفون: Werneck, Lineu Cesar, DiMauro, Salvatore

المصدر: Arquivos de Neuro-Psiquiatria. December 1989 47(4)

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1989000400013

المؤلفون: Leaffer, Emily B., De Vivo, Darryl C., Engelstad, Kristin, Fryer, Robert H., Gu, Yian, Shungu, Dikoma C., Hirano, Michio, DiMauro, Salvatore, Hinton, Veronica J.

المصدر: Annals of Clinical and Translational Neurology ; volume 9, issue 6, page 841-852 ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.51564
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51564
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/acn3.51564

المؤلفون: Emmanuele, Valentina, Ganesh, Jaya, Vladutiu, Georgirene, Haas, Richard, Kerr, Douglas, Saneto, Russell P., Cohen, Bruce H., Van Hove, Johan L.K., Scaglia, Fernando, Hoppel, Charles, Rosales, Xiomara Q., Barca, Emanuele, Buchsbaum, Richard, Thompson, John L., DiMauro, Salvatore, Hirano, Michio

المصدر: Molecular Genetics and Metabolism ; volume 136, issue 2, page 125-131 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2022.05.001
https://api.elsevier.com/content/article/PII:S1096719222003201?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719222003201?httpAccept=text/plain

المؤلفون: Yien, Yvette Y, Robledo, Raymond F, Schultz, Iman J, Takahashi-Makise, Naoko, Gwynn, Babette, Bauer, Daniel E, Dass, Abhishek, Yi, Gloria, Li, Liangtao, Hildick-Smith, Gordon J, Cooney, Jeffrey D, Pierce, Eric L, Mohler, Kyla, Dailey, Tamara A, Miyata, Non, Kingsley, Paul D, Garone, Caterina, Hattangadi, Shilpa M, Huang, Hui, Chen, Wen, Keenan, Ellen M, Shah, Dhvanit I, Schlaeger, Thorsten M, DiMauro, Salvatore, Orkin, Stuart H, Cantor, Alan B, Palis, James, Koehler, Carla M, Lodish, Harvey F, Kaplan, Jerry, Ward, Diane M, Dailey, Harry A, Phillips, John D, Peters, Luanne L, Paw, Barry H

المصدر: Journal of Clinical Investigation. 124(10)

مصطلحات موضوعية: Hematology, Liver Disease, Digestive Diseases, Anemia, Animals, Cell Line, Erythroid Cells, Erythropoiesis, Gene Expression Regulation, Heme, Hemoglobins, Liver, Membrane Proteins, Mice, Mitochondria, Mitochondrial Membrane Transport Proteins, Mitochondrial Membranes, Porphyrins, Protoporphyrins, RNA, Small Interfering, Medical and Health Sciences, Immunology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8hk5g0zq

المؤلفون: Hildick-Smith, Gordon J, Cooney, Jeffrey D, Garone, Caterina, Kremer, Laura S, Haack, Tobias B, Thon, Jonathan N, Miyata, Non, Lieber, Daniel S, Calvo, Sarah E, Akman, H Orhan, Yien, Yvette Y, Huston, Nicholas C, Branco, Diana S, Shah, Dhvanit I, Freedman, Matthew L, Koehler, Carla M, Italiano, Joseph E, Merkenschlager, Andreas, Beblo, Skadi, Strom, Tim M, Meitinger, Thomas, Freisinger, Peter, Donati, M Alice, Prokisch, Holger, Mootha, Vamsi K, DiMauro, Salvatore, Paw, Barry H

المصدر: American Journal of Human Genetics. 93(5)

مصطلحات موضوعية: Hematology, Pediatric, Adolescent, Anemia, Macrocytic, Animals, Child, Erythropoiesis, Exome, Female, Gene Knockdown Techniques, Humans, Membrane Proteins, Mitochondrial Diseases, Mitochondrial Proteins, Mutation, Zebrafish, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4m45q6g9

المؤلفون: Vernau, Karen M, Runstadler, Jonathan A, Brown, Emily A, Cameron, Jessie M, Huson, Heather J, Higgins, Robert J, Ackerley, Cameron, Sturges, Beverly K, Dickinson, Peter J, Puschner, Birgit, Giulivi, Cecilia, Shelton, G Diane, Robinson, Brian H, DiMauro, Salvatore, Bollen, Andrew W, Bannasch, Danika L

المصدر: PLOS ONE. 8(3)

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Neurodegenerative, Human Genome, Neurosciences, Rare Diseases, Animals, Base Sequence, Biological Transport, Brain Diseases, Metabolic, Dog Diseases, Dogs, Exons, Female, Genetic Loci, Genome-Wide Association Study, Heterozygote, Homozygote, Humans, Leigh Disease, Male, Membrane Transport Proteins, Molecular Sequence Data, Mutation, Polymorphism, Single Nucleotide, Thiamine, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2x83v4xb
https://escholarship.org/content/qt2x83v4xb/qt2x83v4xb.pdf

المؤلفون: Corradi, Laura, Engel-Dimauro, Salvatore

المصدر: Capitalism Nature Socialism ; volume 32, issue 4, page 17-23 ; ISSN 1045-5752 1548-3290

الاتاحة: http://dx.doi.org/10.1080/10455752.2021.1911385
https://www.tandfonline.com/doi/pdf/10.1080/10455752.2021.1911385

المؤلفون: Naidu, SakkuBai, Bibat, Genila, Lin, Doris, Burger, Peter, Barker, Peter, Rosemberg, Sergio, Braverman, Nancy, Arroyo, Hugo, Dowling, Michael, Hamosh, Ada, Kimonis, Virginia, Blank, Carol, Fiumara, Agata, Facchini, Sergio, Singhal, Bhim, Moser, Hugo, Kelley, Richard, DiMauro, Salvatore

المصدر: Annals of Neurology. 58(6)

مصطلحات موضوعية: Acquired Cognitive Impairment, Aging, Biomedical Imaging, Genetics, Neurosciences, Neurodegenerative, Clinical Research, Rare Diseases, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Biopsy, Brain, Child, Child, Preschool, Disease Progression, Female, Genes, Recessive, Heredodegenerative Disorders, Nervous System, Humans, Infant, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Male, Clinical Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/123174c3

المؤلفون: Hathazi, Denisa, Griffin, Helen, Jennings, Matthew J, Giunta, Michele, Powell, Christopher, Pearce, Sarah F, Munro, Benjamin, Wei, Wei, Boczonadi, Veronika, Poulton, Joanna, Pyle, Angela, Calabrese, Claudia, Gomez-Duran, Aurora, Schara, Ulrike, Pitceathly, Robert DS, Hanna, Michael G, Joost, Kairit, Cotta, Ana, Paim, Julia Filardi, Navarro, Monica Machado, Duff, Jennifer, Mattman, Andre, Chapman, Kristine, Servidei, Serenella, Della Marina, Adela, Uusimaa, Johanna, Roos, Andreas, Mootha, Vamsi, Hirano, Michio, Tulinius, Mar, Giri, Mamta, Hoffmann, Eric P, Lochmüller, Hanns, DiMauro, Salvatore, Minczuk, Michal, Chinnery, Patrick F, Müller, Juliane S, Horvath, Rita

مصطلحات موضوعية: digenic inheritance, homoplasmic tRNA mutation, mitochondrial myopathy, reversible infantile respiratory chain deficiency, Adolescent, Cell Line, DNA, Mitochondrial, Female, Gene Expression, Humans, Infant, Male, Mitochondria, Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Proteins, Mutation, Pedigree, Proteomics, Quadriceps Muscle, tRNA Methyltransferases

وصف الملف: Print-Electronic; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/317428

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/317428
https://doi.org/10.17863/CAM.64541

المؤلفون: Barca, Emanuele, Long, Yuelin, Cooley, Victoria, Schoenaker, Robert, Emmanuele, Valentina, DiMauro, Salvatore, Cohen, Bruce H., Karaa, Amel, Vladutiu, Georgirene D., Haas, Richard, Van Hove, Johan L.K., Scaglia, Fernando, Parikh, Sumit, Bedoyan, Jirair K., DeBrosse, Susanne D., Gavrilova, Ralitza H., Saneto, Russell P., Enns, Gregory M., Stacpoole, Peter W., Ganesh, Jaya, Larson, Austin, Zolkipli-Cunningham, Zarazuela, Falk, Marni J., Goldstein, Amy C., Tarnopolsky, Mark, Gropman, Andrea, Camp, Kathryn, Krotoski, Danuta, Engelstad, Kristin, Rosales, Xiomara Q., Kriger, Joshua, Grier, Johnston, Buchsbaum, Richard, Thompson, John L.P., Hirano, Michio

المصدر: Neurology Genetics ; volume 6, issue 2 ; ISSN 2376-7839

الاتاحة: http://dx.doi.org/10.1212/nxg.0000000000000402
https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000000402

المؤلفون: Rosales, Xiomara Q., Thompson, John L. P., Haas, Richard, Van Hove, Johan L. K., Karaa, Amel, Krotoski, Danuta, Engelstad, Kristin, Buchsbaum, Richard, DiMauro, Salvatore, Hirano, Michio

المساهمون: the National Institute of Health, the UMDF

المصدر: Journal of Translational Genetics and Genomics

الاتاحة: http://dx.doi.org/10.20517/jtgg.2020.12

المؤلفون: Garone, Caterina, D'Souza, Aaron R, Dallabona, Cristina, Lodi, Tiziana, Rebelo-Guiomar, Pedro, Rorbach, Joanna, Donati, Alice, Procopio, Elena, Montomoli, Martino, Guerrini, Renzo, Zeviani, Massimo, Calvo, Sarah, Mootha, Vamsi, DiMauro, Salvatore, Ferrero, Iliana, Minczuk, Michal

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/291827

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/291827
https://doi.org/10.17863/CAM.38987

المؤلفون: Garone, Caterina, Taylor, Robert W., Nascimento, Andres, Poulton, Joanna, Fratter, Carl, Dominguez-Gonzalez, Cristina, Evans, Julie C., Loos, Mariana, Isohanni, Pirjo, Suomalainen, Anu, Ram, Dipak, Hughes, M. Imelda, McFarland, Robert, Barca, Emanuele, Gomez, Carlos Lopez, Jayawant, Sandeep, Thomas, Neil D., Manzur, Adnan Y., Kleinsteuber, Karin, Martin, Miguel A., Kerr, Timothy, Gorman, Grainne S., Sommerville, Ewen W., Chinnery, Patrick F., Hofer, Monika, Karch, Christoph, Ralph, Jeffrey, Camara, Yolanda, Madruga-Garrido, Marcos, Dominguez-Carral, Jana, Ortez, Carlos, Emperador, Sonia, Montoya, Julio, Chakrapani, Anupam, Kriger, Joshua F., Schoenaker, Robert, Levin, Bruce, Thompson, John L. P., Long, Yuelin, Rahman, Shamima, Donati, Maria Alice, DiMauro, Salvatore, Hirano, Michio

المساهمون: Doctoral Programme in Clinical Research, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Research Programme for Molecular Neurology, Children's Hospital, Clinicum, Lastenneurologian yksikkö, University of Helsinki, Doctoral Programme Brain & Mind, Neurologian yksikkö, Neuroscience Center, HUS Children and Adolescents

مصطلحات موضوعية: MITOCHONDRIAL-DNA DEPLETION, SPINAL MUSCULAR-ATROPHY, TK2 GENE, MTDNA DEPLETION, MYOPATHIC FORM, MUTATIONS, PATIENT, DELETIONS, SPECTRUM, DEFECT, Biomedicine

وصف الملف: application/pdf

Relation: This work was supported by research grants from NIH (P01 HD080642) and U54 NS078059 from NINDS, NICHD, ODS and the National Center for Advancing Translational Science (NCATS), the Muscular Dystrophy Association (MIH) and the Associarione Maalattie Metaboliche Congenite eredit arie (AMMeC) (CG) as well as by the Arturo Estopinan TK2 Research Fund (MIH) and the Marriott Mitochondrial Disease Clinic Research Fund (MMDCRF) (MIN). FONT is funded by a Wellcome Trust Strategic Award (096919/Z/11/Z), the MRC Centre for Nleuromuscular Diseases (G0601943), the Lily Foundation and the UK NHS Highly Specialised 'Rare Mitochondrial Disorders of Adults and Children' Service. JP is funded by a Medical Research Council Project Grant (MR/101044811), Wellcome Trust Project Grant (0948685/Z/10/Z), and UK NHS Highly Specialised 'Rare Mitochondrial Disorders of Adults and Children' Service. SR acknowledges support from a Great Ormond Street Hospital Children's Charity Research Leadership award (V1260) and the Lily Foundation. PFC is a Wellcome Trust Senior Fellow in Clinical Science (101876/Z/13/Z) and a UK NIHR Senior Investigator, who receives support from the Medical Research Council Mitochondrial Biology Unit (MC_UP_150112), the Wellcome Trust Centre for Mitochondrial Research (096919Z/11/Z), the Medical Research Council (UK) Centre for Translational Muscle Disease research (G0601943), EU FP7 TIRCON and the National Institute for Health Research (NIHR) Biomedical Research Centre based at Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge. During this study, AS has received support from Sigrid Juselius Foundation, Jane and Aatos Erkko Foundation, Academy of Finland, European Research Council and University of Helsinki. MAM has received funding from the Spanish Instituto Salud Carlos III (ISCIII) (FIS-P112/01683). JM has received funding from the ISCIII (FIS-P114/00005), Departamento de Ciencia, Tecnologia y Universidad del Gobierno de Aragon (Grupos Consolidados B33), FEDER Funding Program from the European Union, and CIBERER, an initiative of the ISCIII. AN has received funding from 'Biobanc de l'Hospital Infantil Sant Joan de Deu per a la Investigacia' integrated in the Spanish Biobank Network of ISCIII for the sample and data procurement. YC has received funding from the Spanish Ministry of Economy and Competitiveness (BFU2014-52618-R) and AFM-Telethon (19965).; Garone , C , Taylor , R W , Nascimento , A , Poulton , J , Fratter , C , Dominguez-Gonzalez , C , Evans , J C , Loos , M , Isohanni , P , Suomalainen , A , Ram , D , Hughes , M I , McFarland , R , Barca , E , Gomez , C L , Jayawant , S , Thomas , N D , Manzur , A Y , Kleinsteuber , K , Martin , M A , Kerr , T , Gorman , G S , Sommerville , E W , Chinnery , P F , Hofer , M , Karch , C , Ralph , J , Camara , Y , Madruga-Garrido , M , Dominguez-Carral , J , Ortez , C , Emperador , S , Montoya , J , Chakrapani , A , Kriger , J F , Schoenaker , R , Levin , B , Thompson , J L P , Long , Y , Rahman , S , Donati , M A , DiMauro , S & Hirano , M 2018 , ' Retrospective natural history of thymidine kinase 2 deficiency ' , Journal of Medical Genetics , vol. 55 , no. 8 , pp. 515-521 . https://doi.org/10.1136/jmedgenet-2017-105012; http://hdl.handle.net/10138/243584; aa4c1846-216c-44f9-9a29-4754248ad194; 85047615954; 000442457100002

الاتاحة: http://hdl.handle.net/10138/243584

المؤلفون: DiMauro, Salvatore, Garone, Caterina

المصدر: Developmental Disabilities Research Reviews. Jun 2010 16(2):106-113.

Peer Reviewed: Y

Page Count: 8

Descriptors: History, Medicine, Biochemistry, Genetics, Molecular Structure, Genetic Disorders, Biomedicine, Diseases, Research

المؤلفون: Manoli, Irini, Sysol, Justin R., Li, Lingli, Houillier, Pascal, Garone, Caterina, Wang, Cindy, Zerfas, Patricia M., Cusmano-Ozog, Kristina, Young, Sarah, Trivedi, Niraj S., Cheng, Jun, Sloan, Jennifer L., Chandler, Randy J., Abu-Asab, Mones, Tsokos, Maria, Elkahloun, Abdel G., Rosen, Seymour, Enns, Gregory M., Berry, Gerard T., Hoffmann, Victoria, DiMauro, Salvatore, Schnermann, Jurgen, Venditti, Charles P.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2013 Aug . 110(33), 13552-13557.

URL الوصول: https://www.jstor.org/stable/42712945

المؤلفون: Feichtinger, René G., Oláhová, Monika, Kishita, Yoshihito, Garone, Caterina, Kremer, Laura S., Yagi, Mikako, Uchiumi, Takeshi, Jourdain, Alexis A., Thompson, Kyle, D'Souza, Aaron R., Kopajtich, Robert, Alston, Charlotte L., Koch, Johannes, Sperl, Wolfgang, Mastantuono, Elisa, Strom, Tim M., Wortmann, Saskia B., Meitinger, Thomas, Pierre, Germaine, Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M., Lightowlers, Robert N., DiMauro, Salvatore, Calvo, Sarah E., Mootha, Vamsi K., Moggio, Maurizio, Sciacco, Monica, Comi, Giacomo P., Ronchi, Dario, Murayama, Kei, Ohtake, Akira, Rebelo-Guiomar, Pedro, Kohda, Masakazu, Kang, Dongchon, Mayr, Johannes A., Taylor, Robert W., Okazaki, Yasushi, Minczuk, Michal, Prokisch, Holger

المساهمون: R.G. Feichtinger, M. Oláhová, Y. Kishita, C. Garone, L.S. Kremer, M. Yagi, T. Uchiumi, A.A. Jourdain, K. Thompson, A.R. D'Souza, R. Kopajtich, C.L. Alston, J. Koch, W. Sperl, E. Mastantuono, T.M. Strom, S.B. Wortmann, T. Meitinger, G. Pierre, P.F. Chinnery, Z.M. Chrzanowska-Lightowler, R.N. Lightowler, S. Dimauro, S.E. Calvo, V.K. Mootha, M. Moggio, M. Sciacco, G.P. Comi, D. Ronchi, K. Murayama, A. Ohtake, P. Rebelo-Guiomar, M. Kohda, D. Kang, J.A. Mayr, R.W. Taylor, Y. Okazaki, M. Minczuk, H. Prokisch

مصطلحات موضوعية: lactate, MAM33, mitochondria, multiple mtDNA deletion, myopathy, oxidative phosphorylation, p32, PEO, progressive external ophthalmoplegia, Adult, Age of Onset, Aged, Allele, Amino Acid Sequence, Animal, Cardiomyopathie, Carrier Protein, Cells, Cultured, Child, Preschool, Cohort Studie, DNA, Mitochondrial, Electron Transport, Embryo, Mammalian, Female, Fibroblast, Human

Relation: info:eu-repo/semantics/altIdentifier/pmid/28942965; info:eu-repo/semantics/altIdentifier/wos/WOS:000412277300004; volume:101; issue:4; firstpage:525; lastpage:538; numberofpages:14; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/552578; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85029679322

الاتاحة: http://hdl.handle.net/2434/552578
https://doi.org/10.1016/j.ajhg.2017.08.015

المؤلفون: Garone, Caterina, D’Souza, Aaron R, Dallabona, Cristina, Lodi, Tiziana, Rebelo-Guiomar, Pedro, Rorbach, Joanna, Donati, Maria Alice, Procopio, Elena, Montomoli, Martino, Guerrini, Renzo, Zeviani, Massimo, Calvo, Sarah E, Mootha, Vamsi K, DiMauro, Salvatore, Ferrero, Ileana, Minczuk, Michal

المساهمون: National Institutes of Health

المصدر: Human Molecular Genetics ; volume 26, issue 21, page 4257-4266 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddx314
http://academic.oup.com/hmg/article-pdf/26/21/4257/24339575/ddx314.pdf

المؤلفون: Tarasenko, Tatyana N., Pacheco, Susan E., Koenig, Mary Kay, Gomez-Rodriguez, Julio, Kapnick, Senta M., Diaz, Francisca, Zerfas, Patricia M., Barca, Emanuele, Sudderth, Jessica, DeBerardinis, Ralph J., Covian, Raul, Balaban, Robert S., DiMauro, Salvatore, McGuire, Peter J.

المساهمون: National Institutes of Health

المصدر: Cell Metabolism ; volume 25, issue 6, page 1254-1268.e7 ; ISSN 1550-4131

الاتاحة: http://dx.doi.org/10.1016/j.cmet.2017.05.007
https://api.elsevier.com/content/article/PII:S1550413117302954?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1550413117302954?httpAccept=text/plain