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Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia
Langlo, Christopher S, Patterson, Emily J, Higgins, Brian P, Summerfelt, Phyllis, Razeen, Moataz M, Erker, Laura R, Parker, Maria, Collison, Frederick T, Fishman, Gerald A, Kay, Christine N, Zhang, Jing, Weleber, Richard G, Yang, Paul, Wilson, David J, Pennesi, Mark E, Lam, Byron L, Chiang, John, Chulay, Jeffrey D, Dubra, Alfredo, Hauswirth, William W, Carroll, Joseph
Published in Investigative ophthalmology & visual science (01.08.2016)
Published in Investigative ophthalmology & visual science (01.08.2016)
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Journal Article
Genome-wide identification, characterization and expression analysis of CNGC Genes in moso bamboo (Phyllostachys edulis)
Tan, Jiaqi, Xuan, Xueyun, Su, Shiying, Guo, Hui, Jiao, Yang, Zhijun Zhang
Published in BMC plant biology (02.07.2025)
Published in BMC plant biology (02.07.2025)
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Journal Article
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy
Burkard, Markus, Kohl, Susanne, Krätzig, Timm, Tanimoto, Naoyuki, Brennenstuhl, Christina, Bausch, Anne E., Junger, Katrin, Reuter, Peggy, Sothilingam, Vithiyanjali, Beck, Susanne C., Huber, Gesine, Ding, Xi-Qin, Mayer, Anja K., Baumann, Britta, Weisschuh, Nicole, Zobor, Ditta, Hahn, Gesa-Astrid, Kellner, Ulrich, Venturelli, Sascha, Becirovic, Elvir, Charbel Issa, Peter, Koenekoop, Robert K., Rudolph, Günther, Heckenlively, John, Sieving, Paul, Weleber, Richard G., Hamel, Christian, Zong, Xiangang, Biel, Martin, Lukowski, Robert, Seeliger, Matthias W., Michalakis, Stylianos, Wissinger, Bernd, Ruth, Peter
Published in The Journal of clinical investigation (01.12.2018)
Published in The Journal of clinical investigation (01.12.2018)
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Journal Article
Characterization of Retinal Structure in ATF6 -Associated Achromatopsia
Mastey, Rebecca R., Georgiou, Michalis, Langlo, Christopher S., Kalitzeos, Angelos, Patterson, Emily J., Kane, Thomas, Singh, Navjit, Vincent, Ajoy, Moore, Anthony T., Tsang, Stephen H., Lin, Jonathan H., Young, Marielle P., Hartnett, M. Elizabeth, Héon, Elise, Kohl, Susanne, Michaelides, Michel, Carroll, Joseph
Published in Investigative ophthalmology & visual science (01.06.2019)
Published in Investigative ophthalmology & visual science (01.06.2019)
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Journal Article
Retinal structure and function in achromatopsia: implications for gene therapy
Sundaram, Venki, Wilde, Caroline, Aboshiha, Jonathan, Cowing, Jill, Han, Colin, Langlo, Christopher S, Chana, Ravinder, Davidson, Alice E, Sergouniotis, Panagiotis I, Bainbridge, James W, Ali, Robin R, Dubra, Alfredo, Rubin, Gary, Webster, Andrew R, Moore, Anthony T, Nardini, Marko, Carroll, Joseph, Michaelides, Michel
Published in Ophthalmology (Rochester, Minn.) (01.01.2014)
Published in Ophthalmology (Rochester, Minn.) (01.01.2014)
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Journal Article
Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
Weisschuh, Nicole, Sturm, Marc, Baumann, Britta, Audo, Isabelle, Ayuso, Carmen, Bocquet, Beatrice, Branham, Kari, Brooks, Brian P., Catalá‐Mora, Jaume, Giorda, Roberto, Heckenlively, John R., Hufnagel, Robert B., Jacobson, Samuel G., Kellner, Ulrich, Kitsiou‐Tzeli, Sofia, Matet, Alexandre, Martorell Sampol, Loreto, Meunier, Isabelle, Rudolph, Günther, Sharon, Dror, Stingl, Katarina, Streubel, Berthold, Varsányi, Balázs, Wissinger, Bernd, Kohl, Susanne
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Journal Article
Adaptive Optics Retinal Imaging in CNGA3 -Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability
Georgiou, Michalis, Litts, Katie M., Kalitzeos, Angelos, Langlo, Christopher S., Kane, Thomas, Singh, Navjit, Kassilian, Melissa, Hirji, Nashila, Kumaran, Neruban, Dubra, Alfredo, Carroll, Joseph, Michaelides, Michel
Published in Investigative ophthalmology & visual science (01.01.2019)
Published in Investigative ophthalmology & visual science (01.01.2019)
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Journal Article
Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy
Zhao, Da, Pinares-Garcia, Paulo, McKenzie, Chaseley E., Bleakley, Lauren E., Forster, Ian C., Wong, Vickie H.Y., Nguyen, Christine T.O., Scheffer, Ingrid E., Reid, Christopher A., Bui, Bang V.
Published in The Journal of neuroscience (22.03.2023)
Published in The Journal of neuroscience (22.03.2023)
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Journal Article
Interocular Symmetry of Foveal Cone Topography in Congenital Achromatopsia
Litts, Katie M., Georgiou, Michalis, Langlo, Christopher S., Patterson, Emily J., Mastey, Rebecca R., Kalitzeos, Angelos, Linderman, Rachel E., Lam, Byron L., Fishman, Gerald A., Pennesi, Mark E., Kay, Christine N., Hauswirth, William W., Michaelides, Michel, Carroll, Joseph
Published in Current eye research (02.10.2020)
Published in Current eye research (02.10.2020)
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Journal Article
Progressive Loss of Cones in Achromatopsia: An Imaging Study Using Spectral-Domain Optical Coherence Tomography
Thiadens, Alberta A. H. J., Somervuo, Ville, van den Born, L. Ingeborgh, Roosing, Susanne, van Schooneveld, Mary J., Kuijpers, Robert W. A. M., van Moll-Ramirez, Norka, Cremers, Frans P. M., Hoyng, Carel B., Klaver, Caroline C. W.
Published in Investigative ophthalmology & visual science (01.11.2010)
Published in Investigative ophthalmology & visual science (01.11.2010)
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Journal Article
CNGB3 -Achromatopsia Clinical Trial With CNTF: Diminished Rod Pathway Responses With No Evidence of Improvement in Cone Function
Zein, Wadih M., Jeffrey, Brett G., Wiley, Henry E., Turriff, Amy E., Tumminia, Santa J., Tao, Weng, Bush, Ronald A., Marangoni, Dario, Wen, Rong, Wei, Lisa L., Sieving, Paul A.
Published in Investigative ophthalmology & visual science (01.10.2014)
Published in Investigative ophthalmology & visual science (01.10.2014)
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Journal Article
Expanding the Genetic Landscape of Usher-Like Phenotypes
Fuster-García, Carla, García-García, Gema, Jaijo, Teresa, Blanco-Kelly, Fiona, Tian, Lifeng, Hakonarson, Hakon, Ayuso, Carmen, Aller, Elena, Millán, José M.
Published in Investigative ophthalmology & visual science (01.11.2019)
Published in Investigative ophthalmology & visual science (01.11.2019)
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Journal Article
Hyperpolarization-activated cyclic nucleotide gated channels: a potential molecular link between epileptic seizures and Aβ generation in Alzheimer’s disease
Saito, Yuhki, Inoue, Tsuyoshi, Zhu, Gang, Kimura, Naoki, Okada, Motohiro, Nishimura, Masaki, Kimura, Nobuyuki, Murayama, Shigeo, Kaneko, Sunao, Shigemoto, Ryuichi, Imoto, Keiji, Suzuki, Toshiharu
Published in Molecular neurodegeneration (03.10.2012)
Published in Molecular neurodegeneration (03.10.2012)
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Journal Article
Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels in Olfactory Sensory Neurons Regulate Axon Extension and Glomerular Formation
Mobley, Arie S., Miller, Alexandra M., Araneda, Ricardo C., Maurer, Lydia R., Müller, Frank, Greer, Charles A.
Published in The Journal of neuroscience (08.12.2010)
Published in The Journal of neuroscience (08.12.2010)
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Journal Article
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes
Dibbens, Leanne M., Reid, Christopher A., Hodgson, Bree, Thomas, Evan A., Phillips, Alison M., Gazina, Elena, Cromer, Brett A., Clarke, Alison L., Baram, Tallie Z., Scheffer, Ingrid E., Berkovic, Samuel F., Petrou, Steven
Published in Annals of neurology (01.04.2010)
Published in Annals of neurology (01.04.2010)
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Journal Article
Novel CNGA3 mutations in Chinese patients with achromatopsia
Liang, Xiaofang, Dong, Fangtian, Li, Hui, Li, Huajin, Yang, Lizhu, Sui, Ruifang
Published in British journal of ophthalmology (01.04.2015)
Published in British journal of ophthalmology (01.04.2015)
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Journal Article
Intraobserver Repeatability and Interobserver Reproducibility of Foveal Cone Density Measurements in CNGA3- and CNGB3 -Associated Achromatopsia
Georgiou, Michalis, Litts, Katie M., Singh, Navjit, Kane, Thomas, Patterson, Emily J., Hirji, Nashila, Kalitzeos, Angelos, Dubra, Alfredo, Michaelides, Michel, Carroll, Joseph
Published in Translational vision science & technology (01.06.2020)
Published in Translational vision science & technology (01.06.2020)
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Journal Article
In vivo assessment of HCN channel current (Ih) in human motor axons
Tomlinson, Susan, Burke, David, Hanna, Mike, Koltzenburg, Martin, Bostock, Hugh
Published in Muscle & nerve (01.02.2010)
Published in Muscle & nerve (01.02.2010)
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Journal Article