檢索結果 - Michael Niblock

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  1. 1
    Loss of neuronal cell cycle control as a mechanism of neurodegeneration in the Presenilin-1 Alzheimer's disease brain

    Loss of neuronal cell cycle control as a mechanism of neurodegeneration in the Presenilin-1 Alzheimer's disease brain 由 Bilal Malik, António Currais, Ana Andrés, Christopher Towlson, Didier Pitsi, Ana F. Nunes, Michael Niblock, Jonathan D. Cooper, Tibor Hortobágyi, Salvador Soriano

    出版 2008
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  2. 2
    Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

    Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD 由 Michael Niblock, Bradley Smith, Youn‐Bok Lee, Valentina Sardone, Simon Topp, Claire Troakes, Safa Al‐Sarraj, Claire S. Leblond, Patrick A. Dion, Guy A. Rouleau, Christopher E. Shaw, Jean‐Marc Gallo

    出版 2016
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    Investigating the role of rare coding variability in Mendelian dementia genes ( APP , PSEN1 , PSEN2 , GRN , MAPT , and PRNP ) in late-onset Alzheimer's disease

    Investigating the role of rare coding variability in Mendelian dementia genes ( APP , PSEN1 , PSEN2 , GRN , MAPT , and PRNP ) in late-onset Alzheimer's disease 由 Celeste Sassi, Rita Guerreiro, J. Raphael Gibbs, Joshua Shulman, Michelle K. Lupton, Claire Troakes, Safa Al‐Sarraj, Michael Niblock, Jean‐Marc Gallo, Jihad Adnan, Richard Killick, Kristelle Brown, Christopher Medway, Jenny Lord, James Turton, José Brás, Kevin Morgan, John Powell, Andrew Singleton, John Hardy

    出版 2014
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    Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

    Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease 由 Mubeen Khan, Gavin Arno, Ana Fakin, David A. Parfitt, Patty P.A. Dhooge, Sílvia Albert, Nathalie M. Bax, Lonneke Duijkers, Michael Niblock, Kwan Hau, Edward Bloch, Elena Schiff, Davide Piccolo, Michael Hogden, Carel B. Hoyng, Andrew R. Webster, Frans P.M. Cremers, Michael E. Cheetham, Alejandro Garanto, Rob W.J. Collin

    出版 2020
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    Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

    Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies 由 Malena Daich Varela, James Bellingham, Fabiana Louise Motta, Neringa Jurkutė, Jamie M. Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz‐Kriegl, Karolina Kamińska, Francesca Cancellieri, Hendrik P. N. Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E. Cheetham, Michel Michaelides, Omar A. Mahroo, Anthony T. Moore, Andrew R. Webster, Gavin Arno

    出版 2022
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