Hasil Pencarian - Michael E Cheetham

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  1. 1
    Correlative light and immuno-electron microscopy of retinal tissue cryostat sections.

    Correlative light and immuno-electron microscopy of retinal tissue cryostat sections. oleh Thomas Burgoyne, Amelia Lane, William E Laughlin, Michael E Cheetham, Clare E Futter

    Diterbitkan 2018-01-01
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  2. 2
    A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants

    A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants oleh Davide Piccolo, Christina Zarouchlioti, James Bellingham, Rosellina Guarascio, Kalliopi Ziaka, Robert S. Molday, Michael E. Cheetham

    Diterbitkan 2024-04-01
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  3. 3
    The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathway.

    The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathway. oleh John S Bett, Naheed Kanuga, Emma Richet, Gunter Schmidtke, Marcus Groettrup, Michael E Cheetham, Jacqueline van der Spuy

    Diterbitkan 2012-01-01
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  4. 4
    Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.

    Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis. oleh Sergey S Novoselov, Wendy J Mustill, Anna L Gray, James R Dick, Naheed Kanuga, Bernadett Kalmar, Linda Greensmith, Michael E Cheetham

    Diterbitkan 2013-01-01
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  5. 5
    CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs

    CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs oleh Paul E. Sladen, Pedro R.L. Perdigão, Grace Salsbury, Tatiana Novoselova, Jacqueline van der Spuy, J. Paul Chapple, Patrick Yu-Wai-Man, Michael E. Cheetham

    Diterbitkan 2021-12-01
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  6. 6
    Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models

    Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models oleh Julio C. Corral-Serrano, Paul E. Sladen, Daniele Ottaviani, Olivia F. Rezek, Dimitra Athanasiou, Katarina Jovanovic, Jacqueline van der Spuy, Brian C. Mansfield, Michael E. Cheetham

    Diterbitkan 2023-06-01
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  7. 7
    Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

    Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C oleh Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang-Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R. Webster, Rob W.J. Collin, Michael E. Cheetham, Gerard Platenburg, Jim Swildens

    Diterbitkan 2023-03-01
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  8. 8
    The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium.

    The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium. oleh Juan Hidalgo-de-Quintana, Nele Schwarz, Ingrid P Meschede, Gabriele Stern-Schneider, Michael B Powner, Ewan E Morrison, Clare E Futter, Uwe Wolfrum, Michael E Cheetham, Jacqueline van der Spuy

    Diterbitkan 2015-01-01
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  9. 9
    CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids

    CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids oleh Tess A.V. Afanasyeva, Dimitra Athanasiou, Pedro R.L. Perdigao, Kae R. Whiting, Lonneke Duijkers, Galuh D.N. Astuti, Jean Bennett, Alejandro Garanto, Jacqueline van der Spuy, Ronald Roepman, Michael E. Cheetham, Rob W.J. Collin

    Diterbitkan 2023-06-01
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  10. 10
    Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs

    Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs oleh Conor M. Ramsden, Britta Nommiste, Amelia R. Lane, Amanda-Jayne F. Carr, Michael B. Powner, Matthew J. K. Smart, Li Li Chen, Manickam N. Muthiah, Andrew R. Webster, Anthony T. Moore, Michael E. Cheetham, Lyndon da Cruz, Peter J. Coffey

    Diterbitkan 2017-03-01
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  11. 11
    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 oleh Kalyan Dulla, Monica Aguila, Amelia Lane, Katarina Jovanovic, David A. Parfitt, Iris Schulkens, Hee Lam Chan, Iris Schmidt, Wouter Beumer, Lars Vorthoren, Rob W.J. Collin, Alejandro Garanto, Lonneke Duijkers, Anna Brugulat-Panes, Ma’ayan Semo, Anthony A. Vugler, Patricia Biasutto, Peter Adamson, Michael E. Cheetham

    Diterbitkan 2018-09-01
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  12. 12
    Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingResearch in context

    Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingResearch in context oleh Christina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, Natalia Dominik, Nihar Bhattacharyya, Siyin Liu, Marcos Abreu Costa, Anita Szabo, Amanda N. Sadan, Albert S. Jun, Enrico Bugiardini, Henry Houlden, Andrea Cortese, Pavlina Skalicka, Lubica Dudakova, Kirithika Muthusamy, Michael E. Cheetham, Alison J. Hardcastle, Petra Liskova, Stephen J. Tuft, Alice E. Davidson

    Diterbitkan 2024-10-01
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  13. 13
    Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.

    Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease. oleh Nihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, Amanda N Sadan, Anita Szabo, Christina Zarouchlioti, Jana Jedlickova, Szi Kay Leung, Tianyi Liao, Lubica Dudakova, Pavlina Skalicka, Mohit Parekh, Ismail Moghul, Aaron R Jeffries, Michael E Cheetham, Kirithika Muthusamy, Alison J Hardcastle, Nikolas Pontikos, Petra Liskova, Stephen J Tuft, Alice E Davidson

    Diterbitkan 2024-05-01
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  14. 14
    Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

    Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy. oleh Mei Hong Tan, Donna S Mackay, Jill Cowing, Hoai Viet Tran, Alexander J Smith, Genevieve A Wright, Arundhati Dev-Borman, Robert H Henderson, Phillip Moradi, Isabelle Russell-Eggitt, Robert E MacLaren, Anthony G Robson, Michael E Cheetham, Dorothy A Thompson, Andrew R Webster, Michel Michaelides, Robin R Ali, Anthony T Moore

    Diterbitkan 2012-01-01
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  15. 15
    Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

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

    Diterbitkan 2020-09-01
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  16. 16
    The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

    The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision oleh Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Genomics England Research Consortium, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux

    Diterbitkan 2022-11-01
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