المؤلفون: Misic, J, Milenkovic, D, Al-Behadili, A, Xie, X, Jiang, M, Jiang, S, Filograna, R, Koolmeister, C, Siira, SJ, Jenninger, L, Filipovska, A, Clausen, AR, Caporali, L, Valentino, ML, La Morgia, C, Carelli, V, Nicholls, TJ, Wredenberg, A, Falkenberg, M, Larsson, NG

المصدر: Nucleic acids research. 50(15):8749-8766

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:150468289

المؤلفون: Fiorini, C, Ormanbekova, D, Palombo, F, Carbonelli, M, Amore, G, Romagnoli, M, d'Agati, P, Valentino, ML, Barboni, P, Cascavilla, ML, De Negri, A, Sadun, F, Carta, A, Testa, F, Petruzzella, V, Guerriero, S, Marzoli, SB, Carelli, V, La Morgia, C, Caporali, L

المساهمون: Fiorini, C, Ormanbekova, D, Palombo, F, Carbonelli, M, Amore, G, Romagnoli, M, D'Agati, P, Valentino, Ml, Barboni, P, Cascavilla, Ml, De Negri, A, Sadun, F, Carta, A, Testa, F, Petruzzella, V, Guerriero, S, Marzoli, Sb, Carelli, V, La Morgia, C, Caporali, L

مصطلحات موضوعية: hereditary optic neuropathie, mitochondria

Relation: info:eu-repo/semantics/altIdentifier/pmid/36913248; info:eu-repo/semantics/altIdentifier/wos/WOS:000970755600001; volume:146; issue:9; firstpage:1; lastpage:4; numberofpages:4; journal:BRAIN; https://hdl.handle.net/11586/429503

الاتاحة: https://hdl.handle.net/11586/429503
https://doi.org/10.1093/brain/awad080
https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awad080/7076672?login=true

المؤلفون: Amore G, Vacchiano V, La Morgia C, Valentino ML, Caporali L, Fiorini C, Ormanbekova D, Salvi F, Bartoletti-Stella A, Capellari S, Liguori R, Carelli V

المساهمون: Amore G, Vacchiano V, La Morgia C, Valentino ML, Caporali L, Fiorini C, Ormanbekova D, Salvi F, Bartoletti-Stella A, Capellari S, Liguori R, Carelli V

مصطلحات موضوعية: NA

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/36066624; info:eu-repo/semantics/altIdentifier/wos/WOS:000850383600003; volume:270; issue:1; firstpage:559; lastpage:564; numberofpages:6; journal:JOURNAL OF NEUROLOGY; https://hdl.handle.net/11585/905879; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85139229372; https://link.springer.com/article/10.1007/s00415-022-11355-w

الاتاحة: https://hdl.handle.net/11585/905879
https://doi.org/10.1007/s00415-022-11355-w
https://link.springer.com/article/10.1007/s00415-022-11355-w

المؤلفون: Carbonelli, M, La Morgia, C, Romagnoli, M, Amore, G, D'Agati, P, Valentino, ML, Caporali, L, Cascavilla, ML, Battista, M, Borrelli, E, Di Renzo, A, Parisi, V, Balducci, N, Carelli, V, Barboni, P

المساهمون: Carbonelli, M, La Morgia, C, Romagnoli, M, Amore, G, D'Agati, P, Valentino, ML, Caporali, L, Cascavilla, ML, Battista, M, Borrelli, E, Di Renzo, A, Parisi, V, Balducci, N, Carelli, V, Barboni, P

مصطلحات موضوعية: Human, Nerve Fiber, Optic Atrophy, Hereditary, Leber, Optic Disk, Retinal Ganglion Cell, Tomography, Optical Coherence

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/35513027; info:eu-repo/semantics/altIdentifier/wos/WOS:000817179100006; volume:241; firstpage:71; lastpage:79; numberofpages:9; journal:AMERICAN JOURNAL OF OPHTHALMOLOGY; https://hdl.handle.net/11585/902783; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85131231333; https://www.ajo.com/article/S0002-9394(22)00166-0/fulltext

الاتاحة: https://hdl.handle.net/11585/902783
https://doi.org/10.1016/j.ajo.2022.04.016
https://www.ajo.com/article/S0002-9394(22)00166-0/fulltext

المؤلفون: Giordano, L, Deceglie, S, d'Adamo, P, Valentino, ML, La Morgia, C, Fracasso, F, Roberti, M, Cappellari, M, Petrosillo, G, Ciaravolo, S, Parente, D, Giordano, C, Maresca, A, Iommarini, L, Del Dotto, V, Ghelli, AM, Salomao, SR, Berezovsky, A, Belfort, R, Sadun, AA, Carelli, V, Loguercio Polosa, P, Cantatore, P

المصدر: Cell death & disease. 6(12)

مصطلحات موضوعية: Humans, Optic Atrophy, Hereditary, Leber, Reactive Oxygen Species, DNA, Mitochondrial, Smoking, Oxidative Phosphorylation, Female, Male, Optic Atrophy, Hereditary, Leber, DNA, Mitochondrial, Biochemistry and Cell Biology, Oncology and Carcinogenesis

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9tk624d1

المؤلفون: Lucchini M, Maggi L, Pegoraro E, Filosto M, Rodolico C, Antonini G, Garibaldi M, Valentino ML, Siciliano G, Tasca G, De Arcangelis V, De Fino C, Mirabella M

المصدر: Cells, May 2021

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/289731; https://eprints.ncl.ac.uk/fulltext.aspx?url=289731/F1C8686C-319E-4650-9AA1-FBC8DA44BB58.pdf&pub_id=289731

الاتاحة: https://eprints.ncl.ac.uk/289731

المؤلفون: TRIFUNOV, SELENA, Pyle A., Valentino ML., Liguori R., Yu-Wai-Man P., Burté F., Duff J., Kleinle S., Diebold I., Rugolo M., Horvath R., Carelli V.

المساهمون: Trifunov S., Pyle A., Valentino ML., Liguori R., Yu-Wai-Man P., Burté F., Duff J., Kleinle S., Diebold I., Rugolo M., Horvath R., Carelli V.

مصطلحات موضوعية: MITOCHONDRIAL DNA DELETION, HUMAN SKELETAL MUSCLE, OPA1 MUTATIONS, OPTIC ATROPHY, HUMAN OOCYTES, MYOPATHY, FIBERS, MAINTENANCE, MECHANISMS, PHENOTYPES

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/30076399; info:eu-repo/semantics/altIdentifier/wos/WOS:000440670200045; volume:8; firstpage:1; lastpage:10; numberofpages:10; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/11585/658368; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85051059386

الاتاحة: http://hdl.handle.net/11585/658368
https://doi.org/10.1038/s41598-018-30143-z

المؤلفون: Trifunov S, Pyle A, Valentino ML, Liguori R, Yu-Wai-Man P, Burté F, Duff J, Kleinle S, Diebold I, Rugolo M, Horvath R, Carelli V

المصدر: Scientific Reports, 1 December 2018

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/250633; https://eprints.ncl.ac.uk/fulltext.aspx?url=250633/B399CB7D-281B-48BC-8BDD-E7C07991FB1C.pdf&pub_id=250633

الاتاحة: https://eprints.ncl.ac.uk/250633

المؤلفون: Pippucci, T, Maresca, A, Magini, P, Cenacchi, G, Donadio, V, Palombo, F, Papa, V, Incensi, A, Gasparre, G, Valentino, Ml, Preziuso, C, PISANO, ANNALINDA, Ragno, M, Liguori, R, GIORDANO, Carla, Tonon, C, Lodi, R, Parmeggiani, A, Carelli, V, Seri, M.

المساهمون: Pippucci, T, Maresca, A, Magini, P, Cenacchi, G, Donadio, V, Palombo, F, Papa, V, Incensi, A, Gasparre, G, Valentino, Ml, Preziuso, C, Pisano, Annalinda, Ragno, M, Liguori, R, Giordano, Carla, Tonon, C, Lodi, R, Parmeggiani, A, Carelli, V, Seri, M.

مصطلحات موضوعية: CADASIL, NOTCH3, cerebral arteriopathy, exome, leukoencephalopathy

Relation: info:eu-repo/semantics/altIdentifier/pmid/25870235; info:eu-repo/semantics/altIdentifier/wos/WOS:000355686400012; volume:7; issue:6; firstpage:848; lastpage:858; numberofpages:11; journal:EMBO MOLECULAR MEDICINE; http://hdl.handle.net/11573/783251; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930180640

الاتاحة: http://hdl.handle.net/11573/783251
https://doi.org/10.15252/emmm.201404399

المؤلفون: SANTARELLI, ROSAMARIA, SCIMEMI, PIETRO, CAMA, ELONA, Rossi, R, Valentino, Ml, La Morgia, C, Caporali, L, Liguori, R, Magnavita, V, Monteleone, A, Biscaro, A, Arslan, E, Carelli, V.

المساهمون: Santarelli, Rosamaria, Rossi, R, Scimemi, Pietro, Cama, Elona, Valentino, Ml, La Morgia, C, Caporali, L, Liguori, R, Magnavita, V, Monteleone, A, Biscaro, A, Arslan, E, Carelli, V.

مصطلحات موضوعية: auditory neuropathy, OPA1, electrocochleography, cochlea, cochlear implant, speech perception

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/25564500; info:eu-repo/semantics/altIdentifier/wos/WOS:000351510700015; volume:138; firstpage:563; lastpage:576; numberofpages:14; journal:BRAIN; http://hdl.handle.net/11577/2995499; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84927964290

الاتاحة: http://hdl.handle.net/11577/2995499
https://doi.org/10.1093/brain/awu378

المؤلفون: Montano, V, Orsucci, D, Carelli, V, La Morgia, C, Valentino, ML, Lamperti, C, Marchet, S, Musumeci, O, Toscano, A, Primiano, G, Santorelli, FM, Ticci, C, Filosto, M, Rubegni, A, Mongini, T, Tonin, P, Servidei, S, Ceravolo, R, Siciliano, G, Mancuso, M

المساهمون: Montano, V, Orsucci, D, Carelli, V, La Morgia, C, Valentino, Ml, Lamperti, C, Marchet, S, Musumeci, O, Toscano, A, Primiano, G, Santorelli, Fm, Ticci, C, Filosto, M, Rubegni, A, Mongini, T, Tonin, P, Servidei, S, Ceravolo, R, Siciliano, G, Mancuso, M

مصطلحات موضوعية: Mitochondrial disorder, Ataxia, Parkinsonism, Movement disorders

Relation: info:eu-repo/semantics/altIdentifier/pmid/34259909; info:eu-repo/semantics/altIdentifier/wos/WOS:000673462700002; volume:269; firstpage:1413; lastpage:1421; numberofpages:9; journal:JOURNAL OF NEUROLOGY; https://hdl.handle.net/11570/3218644; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85125000416

الاتاحة: https://hdl.handle.net/11570/3218644
https://doi.org/10.1007/s00415-021-10697-1

المؤلفون: PONTARIN, GIOVANNA, FERRARO, PAOLA, BIANCHI, VERA, VALENTINO ML, HIRANO M, REICHARD P

المساهمون: Pontarin, Giovanna, Ferraro, Paola, Valentino, Ml, Hirano, M, Reichard, P, Bianchi, Vera

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000239542600032; volume:281; firstpage:22720; lastpage:22728; numberofpages:9; journal:THE JOURNAL OF BIOLOGICAL CHEMISTRY; http://hdl.handle.net/11577/2440749

الاتاحة: http://hdl.handle.net/11577/2440749

المؤلفون: Giordano C, Iommarini L, Giordano L, Maresca A, Pisano A, Valentino ML, Caporali L, Liguori R, Deceglie S, Roberti M, Fanelli F, Fracasso F, Ross-Cisneros FN, D'Adamo P, Hudson G, Pyle A, Yu-Wai-Man P, Chinnery PF, Zeviani M, Salomao SR, Berezovsky A, Belfort R, Ventura DF, Moraes M, Barboni P, Sadun F, De Negri A, Sadun AA, Tancredi A, Mancini M, d'Amati G, Polosa PL, Cantatore P, Carelli V

المصدر: Brain , 24-12-2013

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/198059; https://eprints.ncl.ac.uk/fulltext.aspx?url=198059/26A3639A-E6E9-4BD2-8AB3-2E783C9A4031.pdf&pub_id=198059

الاتاحة: https://eprints.ncl.ac.uk/198059

المؤلفون: Yu-Wai-Man, P, Griffiths, PG, Gorman, GS, Lourenco, CM, Wright, AF, Auer-Grumbach, M, Toscano, A, Musumeci, O, Valentino, ML, Caporali, L, Lamperti, C, Tallaksen, CM, Duffey, P, Miller, J, Whittaker, RG, Baker, MR, Jackson, MJ, Clarke, MP, Dhillon, B, Czermin, B, Stewart, JD, Hudson, G, Reynier, P, Bonneau, D, Marques, W, Lenaers, G, McFarland, R, Taylor, RW, Turnbull, DM, Votruba, M, Zeviani, M, Carelli, V, Bindoff, LA, Horvath, R, Amati-Bonneau, P, Chinnery, PF

مصطلحات موضوعية: Adolescent, Adult, Aged, Central Nervous System Diseases, Child, Cohort Studies, DNA, Mitochondrial, Family, Female, GTP Phosphohydrolases, Heterozygote, Humans, Male, Middle Aged, Muscle, Skeletal, Mutation, Optic Atrophy, Autosomal Dominant, Phenotype, Young Adult

وصف الملف: Print-Electronic; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/290368

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/290368
https://doi.org/10.17863/CAM.37598

المؤلفون: Mancuso, M, Orsucci, D, Angelini, C, Bertini, E, Carelli, V, Comi, Gp, Donati, Ma, Federico, A, MINETTI, CARLO, Moggio, M, Mongini, T, Santorelli, Fm, Servidei, S, Tonin, P, Toscano, A, Bruno, C, Bello, L, Caldarazzo Ienco, E, Cardaioli, E, Catteruccia, M, Da Pozzo, P, Filosto, M, Lamperti, C, Moroni, I, Musumeci, O, Pegoraro, E, Ronchi, D, Sauchelli, D, Scarpelli, M, Sciacco, M, Valentino, Ml, Vercelli, L, Zeviani, M, Siciliano, G.

المساهمون: Mancuso, M, Orsucci, D, Angelini, C, Bertini, E, Carelli, V, Comi, Gp, Donati, Ma, Federico, A, Minetti, Carlo, Moggio, M, Mongini, T, Santorelli, Fm, Servidei, S, Tonin, P, Toscano, A, Bruno, C, Bello, L, Caldarazzo Ienco, E, Cardaioli, E, Catteruccia, M, Da Pozzo, P, Filosto, M, Lamperti, C, Moroni, I, Musumeci, O, Pegoraro, E, Ronchi, D, Sauchelli, D, Scarpelli, M, Sciacco, M, Valentino, Ml, Vercelli, L, Zeviani, M, Siciliano, G.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000354950500024; volume:262; firstpage:1301; lastpage:1309; numberofpages:9; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11567/820375; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84929840701

الاتاحة: http://hdl.handle.net/11567/820375
https://doi.org/10.1007/s00415-015-7710-y

المؤلفون: Terlizzi, R, Valentino, ML, Bartoletti-Stella, A, Columbaro, M, Piras, S, Stanzani-Maserati, M, Quadri, Marialuisa, Breedveld, Guido, Bonifati, Vincenzo, Martinelli, P, Parchi, P, Capellari, S

المصدر: Terlizzi , R , Valentino , ML , Bartoletti-Stella , A , Columbaro , M , Piras , S , Stanzani-Maserati , M , Quadri , M , Breedveld , G , Bonifati , V , Martinelli , P , Parchi , P & Capellari , S 2017 , ' Muscle Ceroid Lipofuscin-Like Deposits in a Patient with Corticobasal Syndrome due to a Progranulin Mutation ' , Movement Disorders , vol. 32 , no. 8 , pp. 1259-1260 . https://doi.org/10.1002/mds.27049

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

الاتاحة: https://pure.eur.nl/en/publications/2b3fd009-e35f-455a-960c-b85d72b8dac5
https://doi.org/10.1002/mds.27049
http://hdl.handle.net/1765/108515

المؤلفون: AMATI BONNEAU P, REYNIER P, IOMMARINI L, VALENTINO ML, LA MORGIA C, BELLAN M, DOLLFUS H, MOULIGNIER A, DUCOS G, ORSSAUD C, OLIVIERI A, PALA M, TORRONI A, CARELLI V., ACHILLI, Alessandro

المساهمون: AMATI BONNEAU, P, Reynier, P, Iommarini, L, Valentino, Ml, LA MORGIA, C, Bellan, M, Dollfus, H, Moulignier, A, Ducos, G, Orssaud, C, Achilli, Alessandro, Olivieri, A, Pala, M, Torroni, A, Carelli, V.

Relation: ispartofbook:Neurology; volume:70; firstpage:A260; http://hdl.handle.net/11391/146285

الاتاحة: http://hdl.handle.net/11391/146285

المؤلفون: FULITANO D, GOFFREDO C, LA MORGIA C, CANTALUPO G, TORRONI A, TONON C, LODI R, LIGUORI R, VALENTINO ML, VETRUGNO R, MONTAGNA P, BARUZZI A, MARTINELLI P, CARELLI V., ACHILLI, Alessandro

المساهمون: Fulitano, D, Goffredo, C, LA MORGIA, C, Cantalupo, G, Achilli, Alessandro, Torroni, A, Tonon, C, Lodi, R, Liguori, R, Valentino, Ml, Vetrugno, R, Montagna, P, Baruzzi, A, Martinelli, P, Carelli, V.

Relation: ispartofbook:Neurology; volume:70; firstpage:A143; http://hdl.handle.net/11391/146284

الاتاحة: http://hdl.handle.net/11391/146284

المؤلفون: CARELLI V, TRAVAGLINI C, SEBASTIANI M, MANCINI M, VALENTINO ML, AMADORI M, BARBONI P, BARUZZI A, SALAMAO SR, BELFORT R, SADUN AA, D'AMATI, Giulia, GIORDANO, Carla

المساهمون: Carelli, V, Travaglini, C, Sebastiani, M, Mancini, M, Valentino, Ml, Amadori, M, Barboni, P, Baruzzi, A, Salamao, Sr, Belfort, R, Sadun, Aa, D'Amati, Giulia, Giordano, Carla

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000245175000380; volume:68; firstpage:A92; lastpage:A92; journal:NEUROLOGY; http://hdl.handle.net/11573/66537

الاتاحة: http://hdl.handle.net/11573/66537

المؤلفون: LA MORGIA C, IOMMARINI L, VALENTINO ML, BARBONI P, PALA M, OLIVIERI A, TONON C, LODI R, VETRUGNO R, MOSTACCI B, LIGUORI R, CARROCCIA R, AMADORI M, MONTAGNA P, TORRONI A, CARELLI V., ACHILLI, Alessandro

المساهمون: LA MORGIA, C, Achilli, Alessandro, Iommarini, L, Valentino, Ml, Barboni, P, Pala, M, Olivieri, A, Tonon, C, Lodi, R, Vetrugno, R, Mostacci, B, Liguori, R, Carroccia, R, Amadori, M, Montagna, P, Torroni, A, Carelli, V.

Relation: ispartofbook:Neurology; volume:68; firstpage:A40; lastpage:A40; http://hdl.handle.net/11391/144541

الاتاحة: http://hdl.handle.net/11391/144541