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Michael E Cheetham

Showing results (111-120 of 161) with videos related to

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Human Molecular Genetics|December 5, 2013
Hsp90 inhibition protects against inherited retinal degenerationMònica Aguilà, Dalila Bevilacqua, Caroline McCulley, et al.
Investigative Ophthalmology & Visual Science|January 31, 2002
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophyMohamed F El-Ashry, Mai M Abd El-Aziz, Simon Wilkins, et al.
Human Mutation|January 29, 2003
Mutations in the CACNA1F and NYX genes in British CSNBX familiesIlaria Zito, Louise E Allen, Reshma J Patel, et al.
European Journal of Human Genetics : EJHG|August 21, 2024
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variantFreddie L Braddock, Jessica C Gardner, Nihar Bhattacharyya, et al.
Molecular Therapy. Methods & Clinical Development|June 12, 2023
CRISPR-Cas9 correction of a nonsense mutation in <i>LCA5</i> rescues lebercilin expression and localization in human retinal organoidsTess A V Afanasyeva, Dimitra Athanasiou, Pedro R L Perdigao, et al.
Molecular Therapy. Nucleic Acids|June 17, 2026
Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophyFarah O Rezek, Beatriz Sanchez-Pintado, Emily R Eden, et al.
Human Molecular Genetics|May 6, 2017
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein traffickingSmriti A Agrawal, Thomas Burgoyne, Aiden Eblimit, et al.
Human Molecular Genetics|October 9, 2014
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cellsNele Schwarz, Amanda-Jayne Carr, Amelia Lane, et al.
Investigative Ophthalmology & Visual Science|May 26, 2005
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) familiesNeil D Ebenezer, Michel Michaelides, Sharon A Jenkins, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal DegenerationGavin Arno, Keren J Carss, Sarah Hull, et al.
Pageof 17

Showing results (111-120 of 161) with videos related to

Sort By:
Pageof 17
Human Molecular Genetics|December 5, 2013
Hsp90 inhibition protects against inherited retinal degenerationMònica Aguilà, Dalila Bevilacqua, Caroline McCulley, et al.
Investigative Ophthalmology & Visual Science|January 31, 2002
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophyMohamed F El-Ashry, Mai M Abd El-Aziz, Simon Wilkins, et al.
Human Mutation|January 29, 2003
Mutations in the CACNA1F and NYX genes in British CSNBX familiesIlaria Zito, Louise E Allen, Reshma J Patel, et al.
European Journal of Human Genetics : EJHG|August 21, 2024
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variantFreddie L Braddock, Jessica C Gardner, Nihar Bhattacharyya, et al.
Molecular Therapy. Methods & Clinical Development|June 12, 2023
CRISPR-Cas9 correction of a nonsense mutation in <i>LCA5</i> rescues lebercilin expression and localization in human retinal organoidsTess A V Afanasyeva, Dimitra Athanasiou, Pedro R L Perdigao, et al.
Molecular Therapy. Nucleic Acids|June 17, 2026
Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophyFarah O Rezek, Beatriz Sanchez-Pintado, Emily R Eden, et al.
Human Molecular Genetics|May 6, 2017
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein traffickingSmriti A Agrawal, Thomas Burgoyne, Aiden Eblimit, et al.
Human Molecular Genetics|October 9, 2014
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cellsNele Schwarz, Amanda-Jayne Carr, Amelia Lane, et al.
Investigative Ophthalmology & Visual Science|May 26, 2005
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) familiesNeil D Ebenezer, Michel Michaelides, Sharon A Jenkins, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal DegenerationGavin Arno, Keren J Carss, Sarah Hull, et al.
Pageof 17