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Material Type: Artigo
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Denervation-activated STAT3-IL-6 signalling in fibro-adipogenic progenitors promotes myofibres atrophy and fibrosisMadaro, Luca ; Passafaro, Magda ; Sala, David ; Etxaniz, Usue ; Lugarini, Francesca ; Proietti, Daisy ; Alfonsi, Maria Vittoria ; Nicoletti, Chiara ; Gatto, Sole ; De Bardi, Marco ; Rojas-García, Ricardo ; Giordani, Lorenzo ; Marinelli, Sara ; Pagliarini, Vittoria ; Sette, Claudio ; Sacco, Alessandra ; Puri, Pier LorenzoNature cell biology, 2018-08, Vol.20 (8), p.917-927 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trialStrauss, Kevin A ; Farrar, Michelle A ; Muntoni, Francesco ; Saito, Kayoko ; Mendell, Jerry R ; Servais, Laurent ; McMillan, Hugh J ; Finkel, Richard S ; Swoboda, Kathryn J ; Kwon, Jennifer M ; Zaidman, Craig M ; Chiriboga, Claudia A ; Iannaccone, Susan T ; Krueger, Jena M ; Parsons, Julie A ; Shieh, Perry B ; Kavanagh, Sarah ; Wigderson, Melissa ; Tauscher-Wisniewski, Sitra ; McGill, Bryan E ; Macek, Thomas ANature medicine, 2022-07, Vol.28 (7), p.1390-1397 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trialMercuri, Eugenio ; Muntoni, Francesco ; Baranello, Giovanni ; Masson, Riccardo ; Boespflug-Tanguy, Odile ; Bruno, Claudio ; Corti, Stefania ; Daron, Aurore ; Deconinck, Nicolas ; Servais, Laurent ; Straub, Volker ; Ouyang, Haojun ; Chand, Deepa ; Tauscher-Wisniewski, Sitra ; Mendonca, Nuno ; Lavrov, Arseniy ; Seferian, A. ; De Lucia, S. ; Tachibana, S. ; Jollet, A. ; Mouffak, S. ; Pedemonte, M. ; Brolatti, N. ; Morando, S. ; Vanlander, A. ; De Vos, E. ; Tahon, V. ; Govoni, A. ; Magri, F. ; Comi, G. ; Foa, M. ; Parente, V. ; Buscemi, L. ; Dal Farra, F. ; Schneider, O. ; Jonas, A. ; Defeldre, A.C. ; Pagliano, E. ; Zanin, R. ; Arnoldi, M.T. ; Schembri, V. ; Del Sole, M. ; Mandelli, A. ; Pera, M.C. ; Antonaci, L. ; Coratti, G. ; de Sanctis, R. ; Pane, M. ; Scoto, M. ; Groves, K. ; Edel, L. ; Abel, F. ; Van Ruiten, H. ; Lofra, R.M. ; Thompson, E.Lancet neurology, 2021-10, Vol.20 (10), p.832-841 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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A signature pattern of cortical atrophy in dementia with Lewy bodies: A study on 333 patients from the European DLB consortiumOppedal, Ketil ; Ferreira, Daniel ; Cavallin, Lena ; Lemstra, Afina W. ; ten Kate, Mara ; Padovani, Alessandro ; Rektorova, Irena ; Bonanni, Laura ; Wahlund, Lars-Olof ; Engedal, Knut ; Nobili, Flavio ; Kramberger, Milica ; Taylor, John-Paul ; Hort, Jakub ; Snædal, Jon ; Blanc, Frederic ; Walker, Zuzana ; Antonini, Angelo ; Westman, Eric ; Aarsland, DagAlzheimer's & dementia, 2019-03, Vol.15 (3), p.400-409 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trialStrauss, Kevin A ; Farrar, Michelle A ; Muntoni, Francesco ; Saito, Kayoko ; Mendell, Jerry R ; Servais, Laurent ; McMillan, Hugh J ; Finkel, Richard S ; Swoboda, Kathryn J ; Kwon, Jennifer M ; Zaidman, Craig M ; Chiriboga, Claudia A ; Iannaccone, Susan T ; Krueger, Jena M ; Parsons, Julie A ; Shieh, Perry B ; Kavanagh, Sarah ; Tauscher-Wisniewski, Sitra ; McGill, Bryan E ; Macek, Thomas ANature medicine, 2022-07, Vol.28 (7), p.1381-1389 [Periódico revisado por pares]New York: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and managementNewman, Nancy J ; Yu-Wai-Man, Patrick ; Biousse, Valérie ; Carelli, ValerioLancet neurology, 2023-02, Vol.22 (2), p.172-188 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategiesYu-Wai-Man, Patrick ; Griffiths, Philip G. ; Chinnery, Patrick F.Progress in retinal and eye research, 2011-03, Vol.30 (2), p.81-114 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Hereditary optic neuropathies share a common mitochondrial coupling defectChevrollier, Arnaud ; Guillet, Virginie ; Loiseau, Dominique ; Gueguen, Naïg ; Pou de Crescenzo, Marie-Anne ; Verny, Christophe ; Ferre, Marc ; Dollfus, Hélène ; Odent, Sylvie ; Milea, Dan ; Goizet, Cyril ; Amati-Bonneau, Patrizia ; Procaccio, Vincent ; Bonneau, Dominique ; Reynier, PascalAnnals of neurology, 2008-06, Vol.63 (6), p.794-798 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Inherited mitochondrial optic neuropathiesYu-Wai-Man, P ; Griffiths, P G ; Hudson, G ; Chinnery, P FJournal of medical genetics, 2009-03, Vol.46 (3), p.145-158 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Emerging Mitochondrial Therapeutic Targets in Optic NeuropathiesLopez Sanchez, M I G ; Crowston, J G ; Mackey, D A ; Trounce, I APharmacology & therapeutics (Oxford), 2016-09, Vol.165, p.132-152 [Periódico revisado por pares]EnglandTexto completo disponível |