المؤلفون: Perez-Perez, R, Lobo-Jarne, T, Milenkovic, D, Mourier, A, Bratic, A, Garcia-Bartolome, A, Fernandez-Vizarra, E, Cadenas, S, Delmiro, A, Garcia-Consuegra, I, Arenas, J, Martin, MA, Larsson, NG, Ugalde, C

المصدر: Cell reports. 16(9):2387-2398

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:134106351

المؤلفون: Čunátová, K, Vrbacký, M, Puertas-Frias, G, Alán, L, Vanišová, M, Saucedo-Rodríguez, MJ, Houštěk, J, Fernández-Vizarra, E, Neužil, J, Pecinová, A, Pecina, P, Mráček, T

مصطلحات موضوعية: Medical microbiology, Clinical sciences

Relation: iScience; Čunátová, K; Vrbacký, M; Puertas-Frias, G; Alán, L; Vanišová, M; Saucedo-Rodríguez, MJ; Houštěk, J; Fernández-Vizarra, E; Neužil, J; Pecinová, A; Pecina, P; Mráček, T, Mitochondrial translation is the primary determinant of secondary mitochondrial complex I deficiencies, iScience, 2024, 27 (8), pp. 110560; https://hdl.handle.net/10072/432167

الاتاحة: https://hdl.handle.net/10072/432167
https://doi.org/10.1016/j.isci.2024.110560

المؤلفون: Beninca C., Zanette V., Brischigliaro M., Johnson M., Reyes A., Valle D. A. D., J. Robinson A., Degiorgi A., Yeates A., Telles B. A., Prudent J., Baruffini E., S. F. Santos M. L., R. De Souza R. L., Fernandez-Vizarra E., J. Whitworth A., Zeviani M.

المساهمون: Beninca, C., Zanette, V., Brischigliaro, M., Johnson, M., Reyes, A., Valle, D. A. D., J. Robinson, A., Degiorgi, A., Yeates, A., Telles, B. A., Prudent, J., Baruffini, E., S. F. Santos M., L., R. De Souza R., L., Fernandez-Vizarra, E., J. Whitworth, A., Zeviani, M.

مصطلحات موضوعية: clinical genetic, genetic, metabolic disorder, neuromuscular disease, Settore MEDS-01/A - Genetica medica, Settore BIOS-14/A - Genetica

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000624069700002; volume:58; firstpage:155; lastpage:167; numberofpages:13; journal:JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11381/2877319

الاتاحة: https://hdl.handle.net/11381/2877319
https://doi.org/10.1136/jmedgenet-2020-106861
https://jmg.bmj.com/content/jmedgenet/early/2020/05/21/jmedgenet-2020-106861.full.pdf

المؤلفون: Peruzzotti-Jametti L., Bernstock J. D., Willis C. M., Manferrari G., Rogall R., Fernandez-Vizarra E., Williamson J. C., Braga A., van den Bosch A., Leonardi T., Krzak G., Kittel A., Beninca C., Vicario N., Tan S., Bastos C., Bicci I., Iraci N., Smith J. A., Peacock B., Muller K. H., Lehner P. J., Buzas E. I., Faria N., Zeviani M., Frezza C., Brisson A., Matheson N. J., Viscomi C., Pluchino S.

المساهمون: Peruzzotti-Jametti, L., Bernstock, J. D., Willis, C. M., Manferrari, G., Rogall, R., Fernandez-Vizarra, E., Williamson, J. C., Braga, A., van den Bosch, A., Leonardi, T., Krzak, G., Kittel, A., Beninca, C., Vicario, N., Tan, S., Bastos, C., Bicci, I., Iraci, N., Smith, J. A., Peacock, B., Muller, K. H., Lehner, P. J., Buzas, E. I., Faria, N., Zeviani, M., Frezza, C., Brisson, A., Matheson, N. J., Viscomi, C., Pluchino, S.

مصطلحات موضوعية: Animal, Biological Transport, Cells, Cultured, Extracellular Vesicle, Female, Green Fluorescent Protein, Mesenchymal Stem Cell, Mice, Inbred C57BL, Transgenic, Mitochondria, Neural Stem Cells

Relation: info:eu-repo/semantics/altIdentifier/pmid/33826607; info:eu-repo/semantics/altIdentifier/wos/WOS:000637553900001; volume:19; issue:4; firstpage:1; lastpage:42; numberofpages:42; journal:PLOS BIOLOGY; http://hdl.handle.net/11577/3454412; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85104857474

الاتاحة: http://hdl.handle.net/11577/3454412
https://doi.org/10.1371/journal.pbio.3001166

المؤلفون: Di Nottia M., Marchese M., Verrigni D., Mutti C. D., Torraco A., Oliva R., Fernandez-Vizarra E., Morani F., Trani G., Rizza T., Ghezzi D., Ardissone A., Nesti C., Vasco G., Zeviani M., Minczuk M., Bertini E., Santorelli F. M., Carrozzo R.

المساهمون: Di Nottia, M., Marchese, M., Verrigni, D., Mutti, C. D., Torraco, A., Oliva, R., Fernandez-Vizarra, E., Morani, F., Trani, G., Rizza, T., Ghezzi, D., Ardissone, A., Nesti, C., Vasco, G., Zeviani, M., Minczuk, M., Bertini, E., Santorelli, F. M., Carrozzo, R.

مصطلحات موضوعية: Mitochondrial disorder, Mitochondrial protein synthesi, Mitoribosome, Molecular modeling, Movement disorder, MRPL24, Protein interaction, Zebrafish

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/32344152; info:eu-repo/semantics/altIdentifier/wos/WOS:000542971000010; volume:141; numberofpages:11; journal:NEUROBIOLOGY OF DISEASE; https://hdl.handle.net/11568/1042496; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084253136; https://www.sciencedirect.com/science/article/pii/S0969996120301558

الاتاحة: https://hdl.handle.net/11568/1042496
https://doi.org/10.1016/j.nbd.2020.104880
https://www.sciencedirect.com/science/article/pii/S0969996120301558

المؤلفون: Clayton, SA, Daley, KK, MacDonald, L, Fernandez-Vizarra, E, Bottegoni, G, O'Neil, JD, Major, T, Griffin, D, Zhuang, Q, Adewoye, AB, Woolcock, K, Jones, SW, Goodyear, C, Elmesmari, A, Filer, A, Tennant, DA, Alivernini, S, Buckley, CD, Pitceathly, RDS, Kurowska-Stolarska, M, Clark, AR

المصدر: Science Advances , 7 (50) , Article eabl5182. (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10140517/1/sciadv.abl5182.pdf; https://discovery.ucl.ac.uk/id/eprint/10140517/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10140517/1/sciadv.abl5182.pdf
https://discovery.ucl.ac.uk/id/eprint/10140517/

المؤلفون: Signes A., Cerutti R., Dickson A. S., Beninca C., Hinchy E. C., Ghezzi D., Carrozzo R., Bertini E., Murphy M. P., Nathan J. A., Viscomi C., Fernandez-Vizarra E., Zeviani M.

المساهمون: Signes, A., Cerutti, R., Dickson, A. S., Beninca, C., Hinchy, E. C., Ghezzi, D., Carrozzo, R., Bertini, E., Murphy, M. P., Nathan, J. A., Viscomi, C., Fernandez-Vizarra, E., Zeviani, M.

مصطلحات موضوعية: APOPT1-COA8, cytochrome c oxidase, mitochondrial encephalopathy, proteasome–ubiquitin system, reactive oxygen specie, Animal, Apoptosis Regulatory Protein, Cells, Cultured, Electron Transport Complex IV, Genetic Complementation Test, Human, Mice, Knockout, Mitochondrial Protein, Protein Multimerization, Unfolded Protein Response

Relation: info:eu-repo/semantics/altIdentifier/pmid/30552096; info:eu-repo/semantics/altIdentifier/wos/WOS:000455807100008; volume:11; issue:1; journal:EMBO MOLECULAR MEDICINE; http://hdl.handle.net/11577/3321263; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85058464983; http://embomolmed.embopress.org/

الاتاحة: http://hdl.handle.net/11577/3321263
https://doi.org/10.15252/emmm.201809582
http://embomolmed.embopress.org/

المؤلفون: Brischigliaro M., Fernandez-Vizarra E., Viscomi C.

المساهمون: Brischigliaro, M., Fernandez-Vizarra, E., Viscomi, C.

مصطلحات موضوعية: Drosophila melanogaster, mitochondrial disease, neurodegeneration, OXPHOS

Relation: info:eu-repo/semantics/altIdentifier/pmid/36830747; info:eu-repo/semantics/altIdentifier/wos/WOS:000938906300001; volume:13; issue:2; firstpage:378; journal:BIOMOLECULES; https://hdl.handle.net/11577/3524001; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149027618

الاتاحة: https://hdl.handle.net/11577/3524001
https://doi.org/10.3390/biom13020378

المؤلفون: Quadalti, C., Brunetti, D., Lagutina, I., Duchi, R., Perota, A., Lazzari, G., Cerutti, R., Di Meo, I., Johnson, M., Bottani, E., Crociara, P., Corona, C., Grifoni, S., Tiranti, V., Fernandez-Vizarra, E., Robinson, A. J., Viscomi, C., Casalone, C., Zeviani, M., Galli, C.

المساهمون: Quadalti, C., Brunetti, D., Lagutina, I., Duchi, R., Perota, A., Lazzari, G., Cerutti, R., Di Meo, I., Johnson, M., Bottani, E., Crociara, P., Corona, C., Grifoni, S., Tiranti, V., Fernandez-Vizarra, E., Robinson, A. J., Viscomi, C., Casalone, C., Zeviani, M., Galli, C.

مصطلحات موضوعية: Genome editing, Leigh syndrome, Mitochondrial disease, Pig, SURF1 KO, Animals, Genetically Modified, Newborn, Behavior, Animal, CRISPR-Cas Systems, Cells, Cultured, Central Nervous System, Down-Regulation, Electron Transport Complex IV, Female, Fibroblasts, Gene Editing, Gene Knockout Techniques, Humans, Jejunum, Leigh Disease, Male, Membrane Proteins, Mitochondria, Mitochondrial Proteins, Muscle, Skeletal, Nuclear Transfer Techniques

Relation: info:eu-repo/semantics/altIdentifier/pmid/29601977; info:eu-repo/semantics/altIdentifier/wos/WOS:000432105600012; volume:1864; issue:6 Pt A; firstpage:2131; lastpage:2142; numberofpages:12; journal:BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE; http://hdl.handle.net/11562/1030672; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85044934819; https://www.sciencedirect.com/science/article/pii/S092544391830111X?via=ihub

الاتاحة: http://hdl.handle.net/11562/1030672
https://doi.org/10.1016/j.bbadis.2018.03.021
https://www.sciencedirect.com/science/article/pii/S092544391830111X?via=ihub

المؤلفون: Mohanraj, K., Wasilewski, M., Benincá, C., Cysewski, D., Poznanski, J., Sakowska, P., Bugajska, Z., Deckers, M., Dennerlein, S., Fernandez‐Vizarra, E., Rehling, P., Dadlez, M., Zeviani, M., Chacinska, A.

المصدر: EMBO Molecular Medicine

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-0003-60D8-D; http://hdl.handle.net/21.11116/0000-0003-92F6-2

الاتاحة: http://hdl.handle.net/21.11116/0000-0003-60D8-D
http://hdl.handle.net/21.11116/0000-0003-92F6-2

المؤلفون: Brunetti D., Torsvik J., Dallabona C., TEIXEIRA SANTOS, PATRICIA, Sztromwasser P., Fernandez-Vizarra E., Cerutti R., Reyes A., Preziuso C., D'Amati G., Baruffini E., Goffrini P., Viscomi C., Ferrero I., Boman H., Telstad W., Johansson S., Glaser E., Knappskog P. M., Zeviani M., Bindoff L. A.

المساهمون: Brunetti, D., Torsvik, J., Dallabona, C., TEIXEIRA SANTOS, Patricia, Sztromwasser, P., Fernandez-Vizarra, E., Cerutti, R., Reyes, A., Preziuso, C., D'Amati, G., Baruffini, E., Goffrini, P., Viscomi, C., Ferrero, I., Boman, H., Telstad, W., Johansson, S., Glaser, E., Knappskog, P. M., Zeviani, M., Bindoff, L. A.

مصطلحات موضوعية: Amyloid beta, Mitochondrial disease, Mitochondrial targeting sequence, Neurodegeneration, Pitrilysin 1, Amyloid beta-Peptide, Animal, Brain, Disease Models, Histocytochemistry, Human, Magnetic Resonance Imaging, Metalloendopeptidase, Mice, Models, Biological, Muscle, Skeletal, Mutant Protein, Mutation, Missense, Neurodegenerative Disease, Saccharomyces cerevisiae, Siblings

Relation: info:eu-repo/semantics/altIdentifier/pmid/26697887; info:eu-repo/semantics/altIdentifier/wos/WOS:000372151100002; volume:8; issue:3; firstpage:176; lastpage:190; numberofpages:15; journal:EMBO MOLECULAR MEDICINE; http://hdl.handle.net/11577/3321378; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84959244049; http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1757-4684

الاتاحة: http://hdl.handle.net/11577/3321378
https://doi.org/10.15252/emmm.201505894
http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1757-4684

المؤلفون: Vidoni S, Harbour ME, Guerrero-Castillo S, Signes A, Ding S, Fearnley IM, Taylor RW, Tiranti V, Arnold S, Fernandez-Vizarra E, Zeviani M

المصدر: Cell Reports, 14 February 2017

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/236916; https://eprints.ncl.ac.uk/fulltext.aspx?url=236916/D50C5B94-D063-4EBC-9FD7-3DA88FEFAD9D.pdf&pub_id=236916

الاتاحة: https://eprints.ncl.ac.uk/236916

المؤلفون: Brischigliaro, M., Cabrera Orefice, A., Sturlese, M., Elurbe, D., Frigo, E., Fernandez-Vizarra, E., Moro, S., Huynen, M.A., Arnold, S., Viscomi, C., Zeviani, M.

المصدر: EMBO Reports, 2022

مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/251162/251162.pdf; https://repository.ubn.ru.nl/handle/2066/251162; https://doi.org/10.15252/embr.202254825

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/251162/251162.pdf
https://repository.ubn.ru.nl/handle/2066/251162
https://doi.org/10.15252/embr.202254825

المؤلفون: Fernandez-Vizarra, E, Lopez-Calcerrada, S, Sierra-Magro, A, Perez-Perez, R, Formosa, LE, Hock, DH, Illescas, M, Penas, A, Brischigliaro, M, Ding, S, Fearnley, IM, Tzoulis, C, Pitceathly, RDS, Arenas, J, Martin, MA, Stroud, DA, Zeviani, M, Ryan, MT, Ugalde, C

Relation: NHMRC/1140851; NHMRC/1140906; pii: S1550-4131(22)00395-3; Fernandez-Vizarra, E., Lopez-Calcerrada, S., Sierra-Magro, A., Perez-Perez, R., Formosa, L. E., Hock, D. H., Illescas, M., Penas, A., Brischigliaro, M., Ding, S., Fearnley, I. M., Tzoulis, C., Pitceathly, R. D. S., Arenas, J., Martin, M. A., Stroud, D. A., Zeviani, M., Ryan, M. T. & Ugalde, C. (2022). Two independent respiratory chains adapt OXPHOS performance to glycolytic switch. CELL METABOLISM, 34 (11), pp.1792-+. https://doi.org/10.1016/j.cmet.2022.09.005.; http://hdl.handle.net/11343/332462

الاتاحة: http://hdl.handle.net/11343/332462

المؤلفون: Palenikova P., Harbour M. E., Prodi F., Minczuk M., Zeviani M., Ghelli A., Fernandez-Vizarra E.

المساهمون: Palenikova P., Harbour M.E., Prodi F., Minczuk M., Zeviani M., Ghelli A., Fernandez-Vizarra E.

مصطلحات موضوعية: Complex III, Complex IV, Mitochondrial disease, Mitochondrial DNA mutation, Quantitative proteomic, SILAC, Alzheimer Disease, Cytochromes b, Electron Transport, Electron Transport Complex IV, Human, Hybrid Cell, Isotope Labeling, Mass Spectrometry, Mitochondria, Mitochondrial Protein, Proteome

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33600785; info:eu-repo/semantics/altIdentifier/wos/WOS:000636043000003; volume:1862; issue:6; firstpage:1; lastpage:10; numberofpages:10; journal:BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS; http://hdl.handle.net/11585/853776; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101389817

الاتاحة: http://hdl.handle.net/11585/853776
https://doi.org/10.1016/j.bbabio.2021.148395

المؤلفون: Astrea, G., Battini, R., Berardinelli, A., Bertini, E., Bruno, C., Catteruccia, M., Comi, G.P., D’Amico, A., Fattori, F., Fiorillo, C., Magri, F., Mercuri, E., Messina, S., Mongini, T., Mora, M., Morani, F., Moro, F., Pane, M., Pegoraro, E., Pini, A., Politano, L., Ricci, F., Sframeli, M., Toscano, A., Santorelli, F.M., Lenzi, S., Bello, L., Corti, S., Donati, M.A., Tubili, F., Morrone, A., la Marca, G., Daniotti, M., Evoli, A., Ferlini, A., Garibaldi, M., Rendu, J., Brocard, J., Lacene, E., Fauré, J., Brochier, G., Beuvin, M., Labasse, C., Madelaine, A., Malfatti, E., Bevilacqua, J.A., Lubieniecki, F., Monges, S., Taratuto, A.L., Laporte, J., Marty, I., Antonini, G., Romero, N.B., M.L.*, Lombardo, Maggi, L., Mirabella, M., Musumeci, O., Paoletti, M., Pichiecchio, A., Pennisi, E.M., Ricci, G., Rodolico, C., Marchese, M., Siciliano, G., Tasca, G., Mele, F., Ruggiero, L., Vercelli, L., Bettio, C., Tripodi, S., Govi, M., Bucci, E., Di Muzio, A., Scarlato, M., Villa, L., D’Angelo, G., Filosto, M., Piras, R., Maioli, M.A., Massa, R., Previtali, S., Angelini, C., Moggio, M., Santoro, L., Tomelleri, G., Tupler, R., Udd, B., Sera, F., Maranda, L., Vianello, A., Vissing, J., Zeviani, M., Barp, A., Laforet, P., Monforte, M., Ricci, E., Choumert, A., Stojkovic, T., Semplicini, C., Stramare, R., Scheidegger, O., Haberlova, J., Straub, V., Marini Bettolo, C., Løkken, N., Diaz-Manera, J., Urtizberea, J.A., Kynčl, M., Walter, M.C., Carlier, R.Y., Zambon, A.A., Albamonte, E., Baranello, G., Gandossini, S., Gualandi, F., Natali Sora, M.G., Politano, A., Sansone, V., Vita, G.L., Previtali, S.C., Villa, M., Fusto, A., Vianello, S., Merlo, B., Pedemonte, M., Tacchetti, P., Lanzillotta, V., Trucco, F., De Mattia, E., Rao, F., Calore, C., Hoffman, E.P., Morgenroth, L., Gordish-Dressman, H., McDonald, C.M., Costa, R., Rodia, M.T., Santi, S., Lattanzi, G., Papa, V., Pegoraro, V., Cenacchi, G., M, Sframeli, Ciranni, A., Versaci, A., Di Bella, V., Ferlazzo, V., Gitto, E., Aguennouz, M., Vita, G., Mendell, J.R., Al-Zaidy, S., Lehman, K.J., McColly, M., Lowes, L.P., Alfano, L.N., Miller, N.F., Iammarino, M.A., Church, K., Bernat Fuertes, M., Ogrinc, F.G., L’Italien, J., Kernbauer, E., Shah, S., Sproule, D.M., Feltner, D.E., Day, J.W., Chiriboga, C.A., Crawford, T.O., Darras, B.T., Finkel, R.S., Connolly, A.M., Iannaccone, S.T., Kuntz, N.L., Peña, L.D.M., Schultz, M., Shieh, P.B., Smith, E.C., Shah, A., Ouyang, H., Macek, T.A., Muehring, L.M., Kaspar, B.K., Masson, R., Servais, L., Deconinck, N., Klein, A., Darras, B., Kletzl, H., Cleary, H., El-Khairi, M., Seabrook, T., Czech, C., Gerber, M., Nguyen, C., Gelblin, K., Gorni, K., Rossi, R., Falzarano, M.F., Margutti, A., Spedicato, N., El Dani, R., Fabris, M., Neri, M., Fini, S., Rimessi, P., Johansson, C., Al-Khalili Szigyarto, C., Savarese, M., Johari, M., Jonson, P.H., Koivunen, S., Quareshi, T., Vihola, A., Hackman, P., Gemelli, C., Trevisan, L., Fabbri, S., Pisciotta, L., Meo, G., Traverso, M., Zara, F., Minetti, C., Schenone, A., Mandich, P., Grandis, M., C, Dosi, Cassandrini, D., Rubegni, A., Tolomeo, D., Giannini, F., Malandrini, A., Tonin, P., Volpi, N., Potter, R.A., Griffin, D.A., Heller, K.N., Rodino-Klapac, L.R., Salsi, V., Salani, M., Kaufman, P.D., Green, M.R., Vallarola, A., Termanini, A., Cortini, M., Ghiaroni, V., Forcato, M., Germinario, E., D’Antona, G., Blaauw, B., Genazzani, A.A., Filigheddu, N., Santoro, M., Cotti Piccinelli, S., Lamperti, C., Servidei, S., Santorelli, F.A., Simoncini, C., Primiano, G., Galvagni, A., Caria, F., Gallo Cassarino, S., Baldelli, E., Necchini, N., Carelli, V., Padovani, A., Mancuso, M., Verardo, M., Lupica, A., Ripolone, M., Vattemi, G., Sciacco, M., Nigro, V., Lucchini, M., De Arcangelis, V., De Fino, C., Santovito, L., Brigati, G., Diana, C., Panicucci, C., Broda, P., Nesti, C., Santorelli, F., Baronchelli, C., G, Greco, Frezza, E., Rastelli, E., Terracciano, C., Merlonghi, G., Pugliese, S., Tartaglione, T., Calabrò, F., Petrucci, A., M, Catteruccia, Colia, G., Bonetti, A.M., Carlesi, A., Bruno, G.M., Di Matteo, S., Valentino, M.C., Oselin, M., Martinotti, C., Xoxi, E., Colombo, G.L., Russo, A., LoMauro, A., Velardo, D., Turconi, A.C., Bresolin, N., Aliverti, A., D’Angelo, M.G., Ferrero, A., Rossi, M., Palermo, C., Giannotta, M., Rolle, E., Derchi, M., Gardani, A., Balottin, U., Giugliano, T., Torella, A., Garofalo, A., Onore, M.E., Del Vecchio Blanco, F., Piluso, G., Selvatici, R., Trabanelli, C., Buldrini, B., Venturoli, A., Fortunato, F., Potulska, A., Emandi, A.C., Lehman, I., Herczegfalvi, A., Guergueltcheva, V., Kyriakides, T., Sifi, Y., Molnar, M.J., Burnyte, B., Shatillo, A., Vlodavets, D., F.1, Gualandi, Scali, M., Ciscato, P., Menni, F., Mani, E., Falzarano, M.S., Baratto, S., Nesich, V., Iacomino, M., Castiglione, V., Giannoni, A., Florio, F., Rocchi, A., Emdin, M., Fratazzi, C., Naughton, E., Krenz, H., Distefano, M.G., Madia, F., Mauri, E., Ronchi, D., Govoni, A., Brusa, R., Zangaro, V., Lazzarotto, 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المصدر: Acta Myologica

مصطلحات موضوعية: musculoskeletal diseases, nonsense variants, ABSTRACTS OF POSTER COMMUNICATIONS (listed in order of presentation), P 1-2 SMA, Congenital myopathies and CMD, MUSCLE CLUB SESSION (in alphabetical order of the first Author), ABSTRACTS OF ORAL COMMUNICATIONS (in alphabetical order of the first Author), ABSTRACTS OF INVITED LECTURES (in alphabetical order of the first Author), P. 2-1 Mitochondrial and metabolic myopathies, Duchenne/Becker muscular dystrophy, Proceedings of the Xix Congress of the Italian Society of Myology, P. 2-2. Myotonias, Channellopathies, Neuromuscular Junction Disorders and inflammatory myopathies, P. 2-3 Miscellanea, Session 1. 6 giugno dalle ore 14.30-15.30, NGS, DMD, congenital myopathy, P 1-1 Muscular dystrophies, Sessione 2 7 giugno dalle ore 14.30-15.30, hypotonia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::0a1599d89e0cd061ff2824e8b2eaabff
http://europepmc.org/articles/PMC6598409

المؤلفون: VISCOMI C, SPINAZZOLA A, MAGGIONI M, FERNANDEZ VIZARRA E, MASSA V, MORA M, ZEVIANI M., PAGANO, CLAUDIO, VETTOR, ROBERTO

المساهمون: Viscomi, C, Spinazzola, A, Maggioni, M, FERNANDEZ VIZARRA, E, Massa, V, Pagano, Claudio, Vettor, Roberto, Mora, M, Zeviani, M.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/18818194; info:eu-repo/semantics/altIdentifier/wos/WOS:000261680300002; volume:18; firstpage:12; lastpage:26; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11577/2468420; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-57649181749

الاتاحة: http://hdl.handle.net/11577/2468420
https://doi.org/10.1093/hmg/ddn309

المؤلفون: Szibor M., Gainutdinov T., Fernandez-Vizarra E., Dufour E., Gizatullina Z., Debska-Vielhaber G., Heidler J., Wittig I., Viscomi C., Gellerich F., Moore A. L.

المساهمون: Szibor, M., Gainutdinov, T., Fernandez-Vizarra, E., Dufour, E., Gizatullina, Z., Debska-Vielhaber, G., Heidler, J., Wittig, I., Viscomi, C., Gellerich, F., Moore, A. L.

مصطلحات موضوعية: Alternative oxidase (AOX), Mitochondria, OXPHOS, Quinone pool, ROS, Xenotopic expression

Relation: info:eu-repo/semantics/altIdentifier/pmid/31825809; info:eu-repo/semantics/altIdentifier/wos/WOS:000508749700012; volume:1861; issue:2; firstpage:148137; journal:BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS; http://hdl.handle.net/11577/3321261; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85076561962; www.elsevier.com/locate/bbabio

الاتاحة: http://hdl.handle.net/11577/3321261
https://doi.org/10.1016/j.bbabio.2019.148137

المؤلفون: Protasoni M., Perez-Perez R., Lobo-Jarne T., Harbour M. E., Ding S., Penas A., Diaz F., Moraes C. T., Fearnley I. M., Zeviani M., Ugalde C., Fernandez-Vizarra E.

المساهمون: Protasoni, M., Perez-Perez, R., Lobo-Jarne, T., Harbour, M. E., Ding, S., Penas, A., Diaz, F., Moraes, C. T., Fearnley, I. M., Zeviani, M., Ugalde, C., Fernandez-Vizarra, E.

مصطلحات موضوعية: complex I, complex III, cytochrome b mutation, mitochondrial respiratory chain assembly, supercomplexes

Relation: info:eu-repo/semantics/altIdentifier/pmid/31912925; info:eu-repo/semantics/altIdentifier/wos/WOS:000506045100001; volume:39; issue:3; firstpage:e102817; journal:EMBO JOURNAL; http://hdl.handle.net/11577/3354243; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077974202; http://emboj.embopress.org/

الاتاحة: http://hdl.handle.net/11577/3354243
https://doi.org/10.15252/embj.2019102817
http://emboj.embopress.org/

المؤلفون: Melchionda, L., Haack, T.B., Hardy, S., Abbink, G.E.M., Fernandez-Vizarra, E., Lamantea, E., Marchet, S., Morandi, L., Moggio, M., Carrozzo, R., Torraco, A., Diodato, D., Strom, T.M., Meitinger, T., Tekturk, P., Yapici, Z., Al-Murshedi, F., Stevens, R., Rodenburg, R.J., Lamperti, C., Ardissone, A., Moroni, I., Uziel, G., Prokisch, H., Taylor, R.W., Bertini, E., van der Knaap, M.S., Ghezzi, D., Zeviani, M.

المصدر: Melchionda , L , Haack , T B , Hardy , S , Abbink , G E M , Fernandez-Vizarra , E , Lamantea , E , Marchet , S , Morandi , L , Moggio , M , Carrozzo , R , Torraco , A , Diodato , D , Strom , T M , Meitinger , T , Tekturk , P , Yapici , Z , Al-Murshedi , F , Stevens , R , Rodenburg , R J , Lamperti , C , Ardissone , A , Moroni , I , Uziel , G , Prokisch , ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

الاتاحة: https://research.vu.nl/en/publications/3423c9dd-05c4-4278-a330-fae92ebe94c0
https://doi.org/10.1016/j.ajhg.2014.08.003
https://hdl.handle.net/1871.1/3423c9dd-05c4-4278-a330-fae92ebe94c0