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Material Type: Artigo
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Mid51/Fis1 mitochondrial oligomerization complex drives lysosomal untethering and network dynamicsWong, Yvette C ; Kim, Soojin ; Cisneros, Jasmine ; Molakal, Catherine G ; Song, Pingping ; Lubbe, Steven J ; Krainc, DimitriThe Journal of cell biology, 2022-10, Vol.221 (10), p.1 [Periódico revisado por pares]United States: Rockefeller University PressTexto completo disponível |
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Material Type: Artigo
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Recessive mutations in >VPS13D cause childhood onset movement disordersGauthier, Julie ; Meijer, Inge A. ; Lessel, Davor ; Mencacci, Niccolò E. ; Krainc, Dimitri ; Hempel, Maja ; Tsiakas, Konstantinos ; Prokisch, Holger ; Rossignol, Elsa ; Helm, Margaret H. ; Rodan, Lance H. ; Karamchandani, Jason ; Carecchio, Miryam ; Lubbe, Steven J. ; Telegrafi, Aida ; Henderson, Lindsay B. ; Lorenzo, Kerry ; Wallace, Stephanie E. ; Glass, Ian A. ; Hamdan, Fadi F. ; Michaud, Jacques L. ; Rouleau, Guy A. ; Campeau, Philippe M.Annals of neurology, 2018-06, Vol.83 (6), p.1089-1095 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Assessing the relationship between monoallelic PRKN mutations and Parkinson’s riskLubbe, Steven J ; Bustos, Bernabe I ; Hu, Jing ; Krainc, Dimitri ; Joseph, Theresita ; Hehir, Jason ; Tan, Manuela ; Zhang, Weijia ; Escott-Price, Valentina ; Williams, Nigel M ; Blauwendraat, Cornelis ; Singleton, Andrew B ; Morris, Huw RHuman molecular genetics, 2021-03, Vol.30 (1), p.78-86 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort studyCarecchio, Miryam ; Invernizzi, Federica ; Gonzàlez‐Latapi, Paulina ; Panteghini, Celeste ; Zorzi, Giovanna ; Romito, Luigi ; Leuzzi, Vincenzo ; Galosi, Serena ; Reale, Chiara ; Zibordi, Federica ; Joseph, Agnel P. ; Topf, Maya ; Piano, Carla ; Bentivoglio, Anna Rita ; Girotti, Floriano ; Morana, Paolo ; Morana, Benedetto ; Kurian, Manju A. ; Garavaglia, Barbara ; Mencacci, Niccolò E. ; Lubbe, Steven J. ; Nardocci, NardoMovement disorders, 2019-10, Vol.34 (10), p.1516-1527 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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YY1‐Related Dystonia: Clinical Aspects and Long‐Term Response to Deep Brain StimulationZorzi, Giovanna ; Keller Sarmiento, Ignacio Juan ; Danti, Federica Rachele ; Bustos, Bernabe I. ; Invernizzi, Federica ; Panteghini, Celeste ; Reale, Chiara ; Garavaglia, Barbara ; Chiapparini, Luisa ; Lubbe, Steven J. ; Nardocci, Nardo ; Mencacci, Niccolò E.Movement disorders, 2021-06, Vol.36 (6), p.1461-1462 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic riskBustos, Bernabe I ; Billingsley, Kimberley ; Blauwendraat, Cornelis ; Gibbs, J Raphael ; Gan-Or, Ziv ; Krainc, Dimitri ; Singleton, Andrew B ; Lubbe, Steven JBrain (London, England : 1878), 2023-01, Vol.146 (1), p.65-74 [Periódico revisado por pares]England: Oxford University Press (OUP)Texto completo disponível |
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Material Type: Artigo
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Clinical Implications of the Colorectal Cancer Risk Associated With MUTYH MutationLUBBE, Steven J ; CHIARA DI BERNARDO, Maria ; CHANDLER, Ian P ; HOULSTON, Richard SJournal of clinical oncology, 2009-08, Vol.27 (24), p.3975-3980 [Periódico revisado por pares]Alexandria, VA: American Society of Clinical OncologyTexto completo disponível |
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Material Type: Artigo
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Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case ReportDanti, Federica Rachele ; Sarmiento, Ignacio Juan Keller ; Moloney, Patrick B ; Colangelo, Isabel ; Graziola, Federica ; Garavaglia, Barbara ; Zorzi, Giovanna ; Mencacci, Niccolò E ; Lubbe, Steven JMovement disorders, 2024-02 [Periódico revisado por pares]United StatesTexto completo disponível |
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9 |
Material Type: Artigo
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Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathySimkin, Dina ; Marshall, Kelly A ; Vanoye, Carlos G ; Desai, Reshma R ; Bustos, Bernabe I ; Piyevsky, Brandon N ; Ortega, Juan A ; Forrest, Marc ; Robertson, Gabriella L ; Penzes, Peter ; Laux, Linda C ; Lubbe, Steven J ; Millichap, John J ; George, Alfred L ; Kiskinis, EvangeloseLife, 2021-02, Vol.10 [Periódico revisado por pares]Cambridge: eLife Sciences Publications LtdTexto completo disponível |
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10 |
Material Type: Artigo
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Melanin and Neuromelanin: Linking Skin Pigmentation and Parkinson's DiseaseKrainc, Talia ; Monje, Mariana H.G. ; Kinsinger, Morgan ; Bustos, Bernabe I. ; Lubbe, Steven J.Movement disorders, 2023-02, Vol.38 (2), p.185-195 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |