Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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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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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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Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal AbnormalitiesSteel, Dora ; Zech, Michael ; Zhao, Chen ; Barwick, Katy E. S. ; Burke, Derek ; Demailly, Diane ; Kumar, Kishore R. ; Zorzi, Giovanna ; Nardocci, Nardo ; Kaiyrzhanov, Rauan ; Wagner, Matias ; Iuso, Arcangela ; Berutti, Riccardo ; Škorvánek, Matej ; Necpál, Ján ; Davis, Ryan ; Wiethoff, Sarah ; Mankad, Kshitij ; Sudhakar, Sniya ; Ferrini, Arianna ; Sharma, Suvasini ; Kamsteeg, Erik‐Jan ; Tijssen, Marina A. ; Verschuuren, Corien ; Egmond, Martje E. ; Flowers, Joanna M. ; McEntagart, Meriel ; Tucci, Arianna ; Coubes, Philippe ; Bustos, Bernabe I. ; Gonzalez‐Latapi, Paulina ; Tisch, Stephen ; Darveniza, Paul ; Gorman, Kathleen M. ; Peall, Kathryn J. ; Bötzel, Kai ; Koch, Jan C. ; Kmieć, Tomasz ; Plecko, Barbara ; Boesch, Sylvia ; Haslinger, Bernhard ; Jech, Robert ; Garavaglia, Barbara ; Wood, Nick ; Houlden, Henry ; Gissen, Paul ; Lubbe, Steven J. ; Sue, Carolyn M. ; Cif, Laura ; Mencacci, Niccolò E. ; Anderson, Glenn ; Kurian, Manju A. ; Winkelmann, JulianeAnnals of neurology, 2020-11, Vol.88 (5), p.867-877 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencingJansen, Iris E ; Ye, Hui ; Heetveld, Sasja ; Lechler, Marie C ; Michels, Helen ; Seinstra, Renée I ; Lubbe, Steven J ; Drouet, Valérie ; Lesage, Suzanne ; Majounie, Elisa ; Gibbs, J Raphael ; Nalls, Mike A ; Ryten, Mina ; Botia, Juan A ; Vandrovcova, Jana ; Simon-Sanchez, Javier ; Castillo-Lizardo, Melissa ; Rizzu, Patrizia ; Blauwendraat, Cornelis ; Chouhan, Amit K ; Li, Yarong ; Yogi, Puja ; Amin, Najaf ; van Duijn, Cornelia M ; Morris, Huw R ; Brice, Alexis ; Singleton, Andrew B ; David, Della C ; Nollen, Ellen A ; Jain, Shushant ; Shulman, Joshua M ; Heutink, PeterGenome Biology, 2017-01, Vol.18 (1), p.22-22, Article 22 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritanceLubbe, Steven J ; Escott-Price, Valentina ; Gibbs, J Raphael ; Nalls, Mike A ; Bras, Jose ; Price, T Ryan ; Nicolas, Aude ; Jansen, Iris E ; Mok, Kin Y ; Pittman, Alan M ; Tomkins, James E ; Lewis, Patrick A ; Noyce, Alastair J ; Lesage, Suzanne ; Sharma, Manu ; Schiff, Elena R ; Levine, Adam P ; Brice, Alexis ; Gasser, Thomas ; Hardy, John ; Heutink, Peter ; Wood, Nicholas W ; Singleton, Andrew B ; Williams, Nigel M ; Morris, Huw RHuman molecular genetics, 2016-12, Vol.25 (24), p.5483-5489 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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A PDE10A de novo mutation causes childhood‐onset chorea with diurnal fluctuationsEsposito, Silvia ; Carecchio, Miryam ; Tonduti, Davide ; Saletti, Veronica ; Panteghini, Celeste ; Chiapparini, Luisa ; Zorzi, Giovanna ; Pantaleoni, Chiara ; Garavaglia, Barbara ; Krainc, Dimitri ; Lubbe, Steven J. ; Nardocci, Nardo ; Mencacci, Niccolò E.Movement disorders, 2017-11, Vol.32 (11), p.1646-1647 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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277 Disentangling corticobasal syndrome from corticobasal degenerationRuth, Lamb ; Jonathan, Rohrer ; Steven, Lubbe ; Rimona, Weil ; Tammaryn, Lashley ; Janice, Holten ; Tamas, Revesz ; Andrew, Lees ; Huw, MorrisJournal of neurology, neurosurgery and psychiatry, 2018-10, Vol.89 (10), p.A40-A41 [Periódico revisado por pares]London: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case reportNorman, Brendan P ; Lubbe, Steven J ; Tan, Manuela ; Warren, Naomi ; Morris, Huw RBMC neurology, 2017-08, Vol.17 (1), p.153-153, Article 153 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Is the MC1R variant p.R160W associated with Parkinson's?Lubbe, Steven J. ; Escott-Price, Valentina ; Brice, Alexis ; Gasser, Thomas ; Hardy, John ; Heutink, Peter ; Sharma, Manu ; Wood, Nicholas W. ; Nalls, Mike ; Singleton, Andrew B. ; Williams, Nigel M. ; Morris, Huw R.Annals of neurology, 2016-01, Vol.79 (1), p.159-161 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disordersLamb, Ruth ; Rohrer, Jonathan D ; Real, Raquel ; Lubbe, Steven J ; Waite, Adrian J ; Blake, Derek J ; Walters, R Jon ; Lashley, Tammaryn ; Revesz, Tamas ; Holton, Janice L ; Morris, Huw RCold Spring Harbor molecular case studies, 2019-06, Vol.5 (3), p.a003913 [Periódico revisado por pares]United States: Cold Spring Harbor Laboratory PressTexto completo disponível |