תוצאות חיפוש - David A. Parfitt

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  1. 1
    DNAJ Proteins in neurodegeneration: essential and protective factors

    DNAJ Proteins in neurodegeneration: essential and protective factors מאת Christina Zarouchlioti, David A. Parfitt, Wenwen Li, Lauren M. Gittings, Michael E. Cheetham

    יצא לאור 2017
    קבל טקסט מלא קבל טקסט מלא
    Revisão
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  2. 2
    The cell stress machinery and retinal degeneration

    The cell stress machinery and retinal degeneration מאת Dimitra Athanasiou, Mònica Aguilà, Dalila Bevilacqua, Sergey S. Novoselov, David A. Parfitt, Michael E. Cheetham

    יצא לאור 2013
    קבל טקסט מלא
    Revisão
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  3. 3
    Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism

    Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism מאת Helen L. Storr, Barbara Kind, David A. Parfitt, J. Paul Chapple, Michael G. Lorenz, Katrin Koehler, Angela Huebner, Adrian J. L. Clark

    יצא לאור 2009
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  4. 4
    Iron accumulation induces oxidative stress, while depressing inflammatory polarization in human iPSC-derived microglia

    Iron accumulation induces oxidative stress, while depressing inflammatory polarization in human iPSC-derived microglia מאת Boyd Kenkhuis, Michelle van Eekeren, David A. Parfitt, Yavuz Ariyürek, Poulomi Banerjee, Josef Priller, Louise van der Weerd, Willeke M. C. van Roon‐Mom

    יצא לאור 2022
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    Artigo
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  5. 5
    Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

    Arl3 and RP2 regulate the trafficking of ciliary tip kinesins מאת Nele Schwarz, Amelia Lane, Katarina Jovanović, David A. Parfitt, Mònica Aguilà, Clare L. Thompson, Lyndon da Cruz, Peter Coffey, J. Paul Chapple, Alison J. Hardcastle, Michael E. Cheetham

    יצא לאור 2017
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    Artigo
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  6. 6
    The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

    The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1 מאת David A. Parfitt, Gregory J. Michael, Esmeralda G. M. Vermeulen, Natalia V. Prodromou, Tom R. Webb, Jean‐Marc Gallo, Michael E. Cheetham, William Nicoll, Gregory L. Blatch, J. Paul Chapple

    יצא לאור 2009
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    Artigo
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  7. 7
    The heat-shock response co-inducer arimoclomol protects against retinal degeneration in rhodopsin retinitis pigmentosa

    The heat-shock response co-inducer arimoclomol protects against retinal degeneration in rhodopsin retinitis pigmentosa מאת David A. Parfitt, Marcelo Del Aguila, Caroline McCulley, Dalila Bevilacqua, Hugo F. Mendes, Dimitra Athanasiou, Sergey S. Novoselov, Naheed Kanuga, Peter Munro, Peter Coffey, Bernadett Kalmár, Linda Greensmith, Michael E. Cheetham

    יצא לאור 2014
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    Artigo
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  8. 8
    REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking

    REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking מאת Smriti A. Agrawal, Thomas Burgoyne, Aiden Eblimit, James Bellingham, David A. Parfitt, Amelia Lane, Ralph Nichols, Chinwe Asomugha, Matthew A. Hayes, Peter Munro, Mingchu Xu, Keqing Wang, Clare E. Futter, Yumei Li, Rui Chen, Michael E. Cheetham

    יצא לאור 2017
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  9. 9
    Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

    Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups מאת David A. Parfitt, Amelia Lane, Conor Ramsden, Amanda‐Jayne F. Carr, Peter Munro, Katarina Jovanović, Nele Schwarz, Naheed Kanuga, Manickam Nick Muthiah, Sarah Hull, Jean‐Marc Gallo, Lyndon da Cruz, Anthony T. Moore, Alison J. Hardcastle, Peter Coffey, Michael E. Cheetham

    יצא לאור 2016
    קבל טקסט מלא
    Artigo
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  10. 10
    Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

    Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23) מאת Tom R. Webb, David A. Parfitt, J.C. Gardner, A. Martinez, Daniela Bevilacqua, Alice E. Davidson, Ilaria Zito, Dawn L. Thiselton, J. H. C. Ressa, Maria Apergi, N Schwarz, Naheed Kanuga, Michel Michaelides, Michael E. Cheetham, Michael B. Gorin, Alison J. Hardcastle

    יצא לאור 2012
    קבל טקסט מלא
    Artigo
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  11. 11
    Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

    Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) מאת Martine Girard, Roxanne Larivière, David A. Parfitt, Emily C. Deane, Rébecca Gaudet, Nadya Nossova, F Blondeau, George A. Prenosil, Esmeralda G. M. Vermeulen, Michael R. Duchen, Andréa Richter, Eric A. Shoubridge, Kalle Gehring, R. Anne McKinney, Bernard Brais, J. Paul Chapple, Peter S. McPherson

    יצא לאור 2012
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  12. 12
    Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models

    Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models מאת Kalyan Dulla, Mònica Aguilà, Amelia Lane, Katarina Jovanović, David A. Parfitt, Iris A. Schulkens, Hee Lam Chan, Iris Schmidt, Wouter Beumer, Lars Vorthoren, Rob W.J. Collin, Alejandro Garanto, Lonneke Duijkers, Anna Brugulat-Panés, Ma’ayan Semo, Anthony Vugler, Patricia Biasutto, Peter Adamson, Michael E. Cheetham

    יצא לאור 2018
    קבל טקסט מלא
    Artigo
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  13. 13
    Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

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

    יצא לאור 2020
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    Artigo
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  14. 14
    Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

    Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa מאת Gavin Arno, Smriti A. Agrawal, Aiden Eblimit, James Bellingham, Mingchu Xu, Feng Wang, Christina Chakarova, David A. Parfitt, Amelia Lane, Thomas Burgoyne, Sarah Hull, Keren Carss, Alessia Fiorentino, Matthew Hayes, Peter Munro, Ralph Nicols, Nikolas Pontikos, Graham E. Holder, Chinwe Asomugha, F. Lucy Raymond, Anthony T. Moore, Vincent Plagnol, Michel Michaelides, Alison J. Hardcastle, Yumei Li, Catherine A. Cukras, Andrew R. Webster, Michael E. Cheetham, Rui Chen, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Forbes D.C. Manson, Panagiotis I. Sergouniotis, Chris F. Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James A. Poulter, Kamron Khan, Emma Lord, Andrea H. Németh, Susan M. Downes, Jing Yu, Stefano Lise, Gavin Arno, Alessia Fiorentino, Nikos Ponitkos, Vincent Plagnol, Michel Michaelides, Alison J. Hardcastle, Michael E. Cheetham, Andrew R. Webster, Veronica van Heyningen

    יצא לאור 2016
    קבל טקסט מלא
    Artigo
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