RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING WITH VASCULAR LEAKAGE AND UNILATERAL MACULAR ATROPHY

por Raparia, Eva, Ballios, Brian G., Place, Emily M., Husain, Deeba, Huckfeldt, Rachel M.
Publicado 2023

Assembly of the outer retina in the absence of GABA synthesis in horizontal cells

por Schubert, Timm, Huckfeldt, Rachel M, Parker, Edward, Campbell, John E, Wong, Rachel OL
Publicado 2010

Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy

por Stanwyck, Lynn K., Place, Emily M., Comander, Jason, Huckfeldt, Rachel M., Sobrin, Lucia
Publicado 2019

Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa

por Ballios, Brian G., Place, Emily M., Martinez-Velazquez, Luis, Pierce, Eric A., Comander, Jason I., Huckfeldt, Rachel M.
Publicado 2021

Transient neurites of retinal horizontal cells exhibit columnar tiling via homotypic interactions

por Huckfeldt, Rachel M., Schubert, Timm, Morgan, Joshua L., Godinho, Leanne, Di Cristo, Graziella, Huang, Josh Z., Wong, Rachel O.L.
Publicado 2008

Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker

por Comander, Jason, Weigel DiFranco, Carol, Sanderson, Kit, Place, Emily, Maher, Matthew, Zampaglione, Erin, Zhao, Yan, Huckfeldt, Rachel M., Bujakowska, Kinga M., Pierce, Eric
Publicado 2023

Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum

por Huckfeldt, Rachel M., Grigorian, Florin, Place, Emily, Comander, Jason I., Vavvas, Demetrios, Young, Lucy H., Yang, Paul, Shurygina, Maria, Pierce, Eric A., Pennesi, Mark E.
Publicado 2020

Efficient transduction and optogenetic stimulation of retinal bipolar cells by a synthetic adeno-associated virus capsid and promoter

por Cronin, Therese, Vandenberghe, Luk H, Hantz, Péter, Juttner, Josephine, Reimann, Andreas, Kacsó, Ágota–Enikő, Huckfeldt, Rachel M, Busskamp, Volker, Kohler, Hubertus, Lagali, Pamela S, Roska, Botond, Bennett, Jean
Publicado 2014

Restoration of Vision and Retinal Responses After Adeno-Associated Virus–Mediated Optogenetic Therapy in Blind Dogs

por Nikonov, Sergei, Aravand, Puya, Lyubarsky, Arkady, Nikonov, Roman, Luo, Angela J., Wei, Zhangyong, Maguire, Albert M., Phelps, Nicholas T., Shpylchak, Ivan, Willett, Keirnan, Aleman, Tomas S., Huckfeldt, Rachel M., Ramachandran, Pavitra S., Bennett, Jean
Publicado 2022

RNA-based therapies in inherited retinal diseases

por Girach, Aniz, Audo, Isabelle, Birch, David G., Huckfeldt, Rachel M., Lam, Byron L., Leroy, Bart P., Michaelides, Michel, Russell, Stephen R., Sallum, Juliana M.F., Stingl, Katarina, Tsang, Stephen H., Yang, Paul
Publicado 2022

Expanding the phenotypic spectrum in RDH12-associated retinal disease

por Scott, Hilary A., Place, Emily M., Ferenchak, Kevin, Zampaglione, Erin, Wagner, Naomi E., Chao, Katherine R., DiTroia, Stephanie P., Navarro-Gomez, Daniel, Mukai, Shizuo, Huckfeldt, Rachel M., Pierce, Eric A., Bujakowska, Kinga M.
Publicado 2020

The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline

por Birch, David G., Cheng, Peiyao, Duncan, Jacque L., Ayala, Allison R., Maguire, Maureen G., Audo, Isabelle, Cheetham, Janet K., Durham, Todd A., Fahim, Abigail T., Ferris, Frederick L., Heon, Elise, Huckfeldt, Rachel M., Iannaccone, Alessandro, Khan, Naheed W., Lad, Eleonora M., Michaelides, Michel, Pennesi, Mark E., Stingl, Katarina, Vincent, Ajoy, Weng, Christina Y.
Publicado 2020

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

por Sangermano, Riccardo, Deitch, Iris, Peter, Virginie G., Ba-Abbad, Rola, Place, Emily M., Zampaglione, Erin, Wagner, Naomi E., Fulton, Anne B., Coutinho-Santos, Luisa, Rosin, Boris, Dunet, Vincent, AlTalbishi, Ala’a, Banin, Eyal, Sousa, Ana Berta, Neves, Mariana, Larson, Anna, Quinodoz, Mathieu, Michaelides, Michel, Ben-Yosef, Tamar, Pierce, Eric A., Rivolta, Carlo, Webster, Andrew R., Arno, Gavin, Sharon, Dror, Huckfeldt, Rachel M., Bujakowska, Kinga M.
Publicado 2021

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1

por Georgiou, Michalis, Robson, Anthony G., Fujinami, Kaoru, Leo, Shaun M., Vincent, Ajoy, Nasser, Fadi, Cabral De Guimarães, Thales Antônio, Khateb, Samer, Pontikos, Nikolas, Fujinami-Yokokawa, Yu, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Vargas, Mauricio E., Thiadens, Alberta A.H.J., de Carvalho, Emanuel R., Nguyen, Xuan-Thanh-An, Arno, Gavin, Mahroo, Omar A., Martin-Merida, Maria Inmaculada, Jimenez-Rolando, Belen, Gordo, Gema, Carreño, Ester, Carmen, Ayuso, Sharon, Dror, Kohl, Susanne, Huckfeldt, Rachel M., Wissinger, Bernd, Boon, Camiel J.F., Banin, Eyal, Pennesi, Mark E., Khan, Arif O., Webster, Andrew R., Zrenner, Eberhart, Héon, Elise, Michaelides, Michel
Publicado 2021

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

por Georgiou, Michalis, Fujinami, Kaoru, Vincent, Ajoy, Nasser, Fadi, Khateb, Samer, Vargas, Mauricio E., Thiadens, Alberta A.H.J., de Carvalho, Emanuel R., Nguyen, Xuan-Thanh-An, De Guimarães, Thales Antônio Cabral, Robson, Anthony G., Mahroo, Omar A., Pontikos, Nikolas, Arno, Gavin, Fujinami-Yokokawa, Yu, Leo, Shaun Michael, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Jimenez-Rolando, Belen, Martin-Merida, Maria Inmaculada, Avila-Fernandez, Almudena, Carreño, Ester, Garcia-Sandoval, Blanca, Ayuso, Carmen, Sharon, Dror, Kohl, Susanne, Huckfeldt, Rachel M., Boon, Camiel J.F., Banin, Eyal, Pennesi, Mark E., Wissinger, Bernd, Webster, Andrew R., Héon, Elise, Khan, Arif O., Zrenner, Eberhart, Michaelides, Michel
Publicado 2021