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Michael E Cheetham

Showing results (121-130 of 161) with videos related to

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The Journal of Clinical Investigation|April 11, 2006
Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminaseMaria Borrell-Pagès, Josep M Canals, Fabrice P Cordelières, et al.
American Journal of Human Genetics|March 3, 2018
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4Petra Liskova, Lubica Dudakova, Cerys J Evans, et al.
Scientific Reports|March 2, 2017
Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugsConor M Ramsden, Britta Nommiste, Amelia R Lane, et al.
Investigative Ophthalmology & Visual Science|March 30, 2026
The P23H Rhodopsin Mouse Model Reveals a Novel Interaction Between the Endoplasmic Reticulum and Connecting Cilium Rootlet Within PhotoreceptorsSergey S Novoselov, Bernardo S Mendes, Andrea Martello, et al.
Human Molecular Genetics|May 24, 2012
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)Tom R Webb, David A Parfitt, Jessica C Gardner, et al.
Human Mutation|October 3, 2017
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in femalesAlessia Fiorentino, Kaoru Fujinami, Gavin Arno, et al.
American Journal of Human Genetics|June 29, 2010
X-linked cone dystrophy caused by mutation of the red and green cone opsinsJessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
Advances in Experimental Medicine and Biology|December 21, 2011
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5)Jessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
Cell Stem Cell|May 7, 2016
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic CupsDavid A Parfitt, Amelia Lane, Conor M Ramsden, et al.
American Journal of Human Genetics|March 13, 2018
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated ToxicityChristina Zarouchlioti, Beatriz Sanchez-Pintado, Nathaniel J Hafford Tear, et al.
Pageof 17

Showing results (121-130 of 161) with videos related to

Sort By:
Pageof 17
The Journal of Clinical Investigation|April 11, 2006
Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminaseMaria Borrell-Pagès, Josep M Canals, Fabrice P Cordelières, et al.
American Journal of Human Genetics|March 3, 2018
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4Petra Liskova, Lubica Dudakova, Cerys J Evans, et al.
Scientific Reports|March 2, 2017
Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugsConor M Ramsden, Britta Nommiste, Amelia R Lane, et al.
Investigative Ophthalmology & Visual Science|March 30, 2026
The P23H Rhodopsin Mouse Model Reveals a Novel Interaction Between the Endoplasmic Reticulum and Connecting Cilium Rootlet Within PhotoreceptorsSergey S Novoselov, Bernardo S Mendes, Andrea Martello, et al.
Human Molecular Genetics|May 24, 2012
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)Tom R Webb, David A Parfitt, Jessica C Gardner, et al.
Human Mutation|October 3, 2017
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in femalesAlessia Fiorentino, Kaoru Fujinami, Gavin Arno, et al.
American Journal of Human Genetics|June 29, 2010
X-linked cone dystrophy caused by mutation of the red and green cone opsinsJessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
Advances in Experimental Medicine and Biology|December 21, 2011
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5)Jessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
Cell Stem Cell|May 7, 2016
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic CupsDavid A Parfitt, Amelia Lane, Conor M Ramsden, et al.
American Journal of Human Genetics|March 13, 2018
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated ToxicityChristina Zarouchlioti, Beatriz Sanchez-Pintado, Nathaniel J Hafford Tear, et al.
Pageof 17