Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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31 |
Material Type: Artigo
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RFC1-related ataxia is a mimic of early multiple system atrophySullivan, Roisin ; Yau, Wai Yan ; Chelban, Viorica ; Rossi, Salvatore ; Dominik, Natalia ; O'Connor, Emer ; Hardy, John ; Wood, Nicholas ; Cortese, Andrea ; Houlden, HenryJournal of neurology, neurosurgery and psychiatry, 2021-04, Vol.92 (4), p.444-446 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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32 |
Material Type: Artigo
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A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS familiesScriba, Carolin K ; Beecroft, Sarah J ; Clayton, Joshua S ; Cortese, Andrea ; Sullivan, Roisin ; Yau, Wai Yan ; Dominik, Natalia ; Rodrigues, Miriam ; Walker, Elizabeth ; Dyer, Zoe ; Wu, Teddy Y ; Davis, Mark R ; Chandler, David C ; Weisburd, Ben ; Houlden, Henry ; Reilly, Mary M ; Laing, Nigel G ; Lamont, Phillipa J ; Roxburgh, Richard H ; Ravenscroft, GianinaBrain (London, England : 1878), 2020-10, Vol.143 (10), p.2904-2910 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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33 |
Material Type: Artigo
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Characterization of PLA2G6 as a locus for dystonia-parkinsonismPaisan-Ruiz, Coro ; Bhatia, Kailash P. ; Li, Abi ; Hernandez, Dena ; Davis, Mary ; Wood, Nick W. ; Hardy, John ; Houlden, Henry ; Singleton, Andrew ; Schneider, Susanne A.Annals of neurology, 2009-01, Vol.65 (1), p.19-23 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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34 |
Material Type: Artigo
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Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephalyWang, Lu ; Li, Zhen ; Sievert, David ; Smith, Desirée E C ; Mendes, Marisa I ; Chen, Dillon Y ; Stanley, Valentina ; Ghosh, Shereen ; Wang, Yulu ; Kara, Majdi ; Aslanger, Ayca Dilruba ; Rosti, Rasim O ; Houlden, Henry ; Salomons, Gajja S ; Gleeson, Joseph GNature communications, 2020-08, Vol.11 (1), p.4038-4038, Article 4038 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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35 |
Material Type: Artigo
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A Review of Copy Number Variants in Inherited NeuropathiesSalpietro, Vincenzo ; Manole, Andreea ; Efthymiou, Stephanie ; Houlden, HenryCurrent genomics, 2018-09, Vol.19 (6), p.412-419 [Periódico revisado por pares]United Arab Emirates: Bentham Science Publishers LtdTexto completo disponível |
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36 |
Material Type: Artigo
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Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's diseaseNeumann, Juliane ; Bras, Jose ; Deas, Emma ; O'Sullivan, Sean S. ; Parkkinen, Laura ; Lachmann, Robin H. ; Li, Abi ; Holton, Janice ; Guerreiro, Rita ; Paudel, Reema ; Segarane, Badmavady ; Singleton, Andrew ; Lees, Andrew ; Hardy, John ; Houlden, Henry ; Revesz, Tamas ; Wood, Nicholas W.Brain (London, England : 1878), 2009-07, Vol.132 (7), p.1783-1794 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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37 |
Material Type: Artigo
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The clinical and genetic heterogeneity of paroxysmal dyskinesiasGardiner, Alice R ; Jaffer, Fatima ; Dale, Russell C ; Labrum, Robyn ; Erro, Roberto ; Meyer, Esther ; Xiromerisiou, Georgia ; Stamelou, Maria ; Walker, Matthew ; Kullmann, Dimitri ; Warner, Tom ; Jarman, Paul ; Hanna, Mike ; Kurian, Manju A ; Bhatia, Kailash P ; Houlden, HenryBrain (London, England : 1878), 2015-12, Vol.138 (Pt 12), p.3567-3580 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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38 |
Material Type: Artigo
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Excess α-synuclein compromises phagocytosis in iPSC-derived macrophagesHaenseler, Walther ; Zambon, Federico ; Lee, Heyne ; Vowles, Jane ; Rinaldi, Federica ; Duggal, Galbha ; Houlden, Henry ; Gwinn, Katrina ; Wray, Selina ; Luk, Kelvin C ; Wade-Martins, Richard ; James, William S ; Cowley, Sally AScientific reports, 2017-08, Vol.7 (1), p.9003-11, Article 9003 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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39 |
Material Type: Artigo
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Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic SphingolipidsPenno, Anke ; Reilly, Mary M. ; Houlden, Henry ; Laurá, Matilde ; Rentsch, Katharina ; Niederkofler, Vera ; Stoeckli, Esther T. ; Nicholson, Garth ; Eichler, Florian ; Brown, Robert H. ; von Eckardstein, Arnold ; Hornemann, ThorstenThe Journal of biological chemistry, 2010-04, Vol.285 (15), p.11178-11187 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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40 |
Material Type: Artigo
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Editorial: Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal DementiaConforti, Francesca Luisa ; Renton, Alan Edward ; Houlden, HenryFrontiers in neuroscience, 2021-04, Vol.15, p.680185-680185 [Periódico revisado por pares]Switzerland: Frontiers Research FoundationTexto completo disponível |