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Select item 17725281.

A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1

M Michaelides, G E Holder, D M Hunt, F W Fitzke, A C Bird, A T Moore

Br J Ophthalmol. 2005 Feb; 89(2): 198–206. doi: 10.1136/bjo.2004.050773

PMCID:: PMC1772528

Abstract Article PDF–805K

Select item 48502112.

Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels

Takafumi Miki, Shigeki Kiyonaka, Yoshitsugu Uriu, Michel De Waard, Minoru Wakamori, Aaron Beedle, Kevin Campbell, Yasuo Mori

Channels (Austin) Author manuscript;

Published in final edited form as: Channels (Austin). 2007; 1(3): 144–147. Published online 2007 Jun 29. doi: 10.4161/chan.4660

PMCID:: PMC4850211

Abstract Article

Select item 50155903.

A novel RPE65 hypomorph expands the clinical phenotype of RPE65 mutations. A comprehensive clinical and biochemical functional study

Birgit Lorenz, Eugenia Poliakov, Maria Schambeck, Christoph Friedburg, Markus N. Preising, T. Michael Redmond

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2016 Sep 8.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2008 Dec; 49(12): 5235–5242. Published online 2008 Jul 3. doi: 10.1167/iovs.07-1671

PMCID:: PMC5015590

Abstract Article PDF–928K

Select item 11508624.

Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration

Vikas B. Palhan, Shiming Chen, Guang-Hua Peng, Agneta Tjernberg, Armin M. Gamper, Yuxin Fan, Brian T. Chait, Albert R. La Spada, Robert G. Roeder

Proc Natl Acad Sci U S A. 2005 Jun 14; 102(24): 8472–8477. Published online 2005 Jun 2. doi: 10.1073/pnas.0503505102

PMCID:: PMC1150862

Abstract Article PDF–543K

Select item 18084425.

Cone rod dystrophies

Christian P Hamel

Orphanet J Rare Dis. 2007; 2: 7. Published online 2007 Feb 1. doi: 10.1186/1750-1172-2-7

PMCID:: PMC1808442

Abstract Article PDF–749K

Select item 27408826.

Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1 mutation

Sanjay M Sisodiya, Pamela J Thompson, Anna Need, Sarah E Harris, Michael E Weale, Susan E Wilkie, Michel Michaelides, Samantha L Free, Nicole Walley, Curtis Gumbs, Dianne Gerrelli, Piers Ruddle, Lawrence J Whalley, John M Starr, David M Hunt, David B Goldstein, Ian J Deary, Anthony T Moore

J Med Genet. 2007 Jun; 44(6): 373–380. Published online 2007 Jan 19. doi: 10.1136/jmg.2006.047407

PMCID:: PMC2740882

Abstract Article PDF–2.1M

Select item 33515607.

Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt’s dystrophy

Shannon M. Conley, Xue Cai, Rasha Makkia, Yalin Wu, Janet R. Sparrow, Muna I. Naash

Biochim Biophys Acta. Author manuscript; available in PMC 2013 Jul 1.

Published in final edited form as: Biochim Biophys Acta. 2012 Jul; 1822(7): 1169–1179. Published online 2011 Oct 13. doi: 10.1016/j.bbadis.2011.10.007

PMCID:: PMC3351560

Abstract Article PDF–4.5M

Select item 37745728.

Novel ALMS1 mutations in Chinese patients with Alström syndrome

Xiaofang Liang, Hui Li, Huajin Li, Fei Xu, Fangtian Dong, Ruifang Sui

Mol Vis. 2013; 19: 1885–1891. Published online 2013 Sep 7.

PMCID:: PMC3774572

Abstract Article PDF–1.2M

Select item 38084919.

Outcome of ABCA4 disease-associated alleles in autosomal recessive Retinal Dystrophies: Retrospective analysis in 420 Spanish families

Rosa Riveiro-Alvarez, Miguel-Angel Lopez-Martinez, Jana Zernant, Jana Aguirre-Lamban, Diego Cantalapiedra, Almudena Avila-Fernandez, A. Gimenez, Maria-Isabel Lopez-Molina, Blanca Garcia-Sandoval, Fiona Blanco-Kelly, Marta Corton, Sorina Tatu, Patricia Fernandez-San Jose, Maria-Jose Trujillo-Tiebas, Carmen Ramos, Rando Allikmets, Carmen Ayuso

Ophthalmology. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Ophthalmology. 2013 Nov; 120(11): 10.1016/j.ophtha.2013.04.002. Published online 2013 Jun 4. doi: 10.1016/j.ophtha.2013.04.002

PMCID:: PMC3808491

Abstract Article PDF–138K

Select item 399739710.

RNA Interference-Based Therapy for Spinocerebellar Ataxia Type 7 Retinal Degeneration

Pavitra S. Ramachandran, Sajag Bhattarai, Pratibha Singh, Ryan L. Boudreau, Stewart Thompson, Albert R. LaSpada, Arlene V. Drack, Beverly L. Davidson

PLoS One. 2014; 9(4): e95362. Published online 2014 Apr 23. doi: 10.1371/journal.pone.0095362

PMCID:: PMC3997397

Abstract Article PDF–1.0M

Select item 419558411.

Molecular Pathogenesis and Cellular Pathology of Spinocerebellar Ataxia Type 7 Neurodegeneration

Gwenn A. Garden, Albert R. La Spada

Cerebellum. Author manuscript; available in PMC 2014 Oct 13.

Published in final edited form as: Cerebellum. 2008; 7(2): 138–149. doi: 10.1007/s12311-008-0027-y

PMCID:: PMC4195584

Abstract Article PDF–2.0M

Select item 447548612.

Alström Syndrome: Mutation spectrum of ALMS1

Jan D. Marshall, Jean Muller, Gayle B. Collin, Gabriella Milan, Stephen F. Kingsmore, Darrell Dinwiddie, Emily G. Farrow, Neil A. Miller, Francesca Favaretto, Pietro Maffei, Hélène Dollfus, Roberto Vettor, Jürgen K. Naggert

Hum Mutat. Author manuscript; available in PMC 2016 Jul 1.

Published in final edited form as: Hum Mutat. 2015 Jul; 36(7): 660–668. Published online 2015 May 18. doi: 10.1002/humu.22796

PMCID:: PMC4475486

Abstract Article PDF–532K

Select item 1037908613.

Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mitf^mi/+ Mice

Andrea García-Llorca, Knútur Haukstein Ólafsson, Arnór Thorri Sigurdsson, Thor Eysteinsson

Genes (Basel) 2023 Jul; 14(7): 1458. Published online 2023 Jul 17. doi: 10.3390/genes14071458

PMCID:: PMC10379086

Abstract Article PDF–8.7M

Select item 620284114.

The manner of decay of genetically defective EYS gene transcripts in photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients depends on the type of mutation

Yuko Seko, Masaki Iwanami, Kiyoko Miyamoto-Matsui, Shimpei Takita, Noriyuki Aoi, Akihiro Umezawa, Seishi Kato

Stem Cell Res Ther. 2018; 9: 279. Published online 2018 Oct 25. doi: 10.1186/s13287-018-1016-9

PMCID:: PMC6202841

Abstract Article PDF–1.2M

Select item 623113315.

The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium

Guoxin Ying, Karsten Boldt, Marius Ueffing, Cecilia D. Gerstner, Jeanne M. Frederick, Wolfgang Baehr

J Biol Chem. 2018 Nov 9; 293(45): 17546–17558. Published online 2018 Sep 18. doi: 10.1074/jbc.RA118.005484

PMCID:: PMC6231133

Abstract Article PDF–4.6M

Select item 656784116.

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B

Samer Khateb, Marco Nassisi, Kinga M. Bujakowska, Cécile Méjécase, Christel Condroyer, Aline Antonio, Marine Foussard, Vanessa Démontant, Saddek Mohand-Saïd, José-Alain Sahel, Christina Zeitz, Isabelle Audo

JAMA Ophthalmol. 2019 Jun; 137(6): 669–679. Published online 2019 Apr 18. doi: 10.1001/jamaophthalmol.2018.6367

PMCID:: PMC6567841

Abstract Article

Select item 673229517.

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations

Asia Parveen, Muhammad U. Mirza, Michiel Vanmeert, Javed Akhtar, Hina Bashir, Saadullah Khan, Saqib Shehzad, Matheus Froeyen, Wasim Ahmed, Muhammad Ansar, Naveed Wasif

Mol Genet Genomic Med. 2019 Sep; 7(9): e902. Published online 2019 Jul 25. doi: 10.1002/mgg3.902

PMCID:: PMC6732295

Abstract Article PDF–1.3M

Select item 747906618.

Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing

Wenmin Sun, Shiqiang Li, Xueshan Xiao, Panfeng Wang, Qingjiong Zhang

Mol Vis. 2020; 26: 588–602. Published online 2020 Aug 22.

PMCID:: PMC7479066

Abstract Article PDF–2.3M

Select item 811626519.

Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7

Xuan Zou, Fengxia Yao, Fengrong Li, Shijing Wu, Hui Li, Zixi Sun, Tian Zhu, Xing Wei, Donghui Li, Ruifang Sui

Mol Vis. 2021; 27: 221–232. Published online 2021 May 7.

PMCID:: PMC8116265

Abstract Article PDF–3.7M

Select item 865778420.

Kévin Mairot, Vasily Smirnov, Béatrice Bocquet, Gilles Labesse, Carl Arndt, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, Dalil Hamroun, Danièle Denis, Marie-Christine Picot, Thierry David, Olivier Grunewald, Mako Pégart, Hélèna Huguet, Anne-Françoise Roux, Vasiliki Kalatzis, Claire-Marie Dhaenens, Isabelle Meunier

Int J Mol Sci. 2021 Dec; 22(23): 12642. Published online 2021 Nov 23. doi: 10.3390/ijms222312642

PMCID:: PMC8657784

Abstract Article PDF–3.3M

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