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Michael E Cheetham

Showing results (131-140 of 161) with videos related to

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Molecular Therapy. Nucleic Acids|August 17, 2018
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 ModelsKalyan Dulla, Monica Aguila, Amelia Lane, et al.
Investigative Ophthalmology & Visual Science|July 30, 2025
RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical TrialsMalena Daich Varela, Juan Carlos Romo-Aguas, Rosellina Guarascio, et al.
Nature Genetics|October 7, 2008
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosaMai M Abd El-Aziz, Isabel Barragan, Ciara A O'Driscoll, et al.
American Journal of Human Genetics|July 16, 2013
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosaAlice E Davidson, Nele Schwarz, Lina Zelinger, et al.
Human Molecular Genetics|January 10, 2017
Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degenerationDimitra Athanasiou, Monica Aguila, Chikwado A Opefi, et al.
Human Mutation|August 30, 2014
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsJessica C Gardner, Gerald Liew, Ying-Hua Quan, et al.
Ebiomedicine|September 15, 2024
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingChristina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, et al.
Plos One|March 14, 2012
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapyMei Hong Tan, Donna S Mackay, Jill Cowing, et al.
Plos Genetics|May 7, 2024
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated diseaseNihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, et al.
American Journal of Human Genetics|February 1, 2025
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7Jessica C Gardner, Katarina Jovanovic, Daniele Ottaviani, et al.
Pageof 17

Showing results (131-140 of 161) with videos related to

Sort By:
Pageof 17
Molecular Therapy. Nucleic Acids|August 17, 2018
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 ModelsKalyan Dulla, Monica Aguila, Amelia Lane, et al.
Investigative Ophthalmology & Visual Science|July 30, 2025
RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical TrialsMalena Daich Varela, Juan Carlos Romo-Aguas, Rosellina Guarascio, et al.
Nature Genetics|October 7, 2008
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosaMai M Abd El-Aziz, Isabel Barragan, Ciara A O'Driscoll, et al.
American Journal of Human Genetics|July 16, 2013
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosaAlice E Davidson, Nele Schwarz, Lina Zelinger, et al.
Human Molecular Genetics|January 10, 2017
Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degenerationDimitra Athanasiou, Monica Aguila, Chikwado A Opefi, et al.
Human Mutation|August 30, 2014
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsJessica C Gardner, Gerald Liew, Ying-Hua Quan, et al.
Ebiomedicine|September 15, 2024
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingChristina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, et al.
Plos One|March 14, 2012
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapyMei Hong Tan, Donna S Mackay, Jill Cowing, et al.
Plos Genetics|May 7, 2024
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated diseaseNihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, et al.
American Journal of Human Genetics|February 1, 2025
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7Jessica C Gardner, Katarina Jovanovic, Daniele Ottaviani, et al.
Pageof 17