Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

Autor: Khan, Kamron N., El-Asrag, Mohammed E., Ku, Cristy A., Holder, Graham E., McKibbin, Martin, Arno, Gavin, Poulter, James A., Carss, Keren, Bommireddy, Tejaswi, Bagheri, Saghar, Bakall, Benjamin, Scholl, Hendrik P., Raymond, F. Lucy, Toomes, Carmel, Inglehearn, Chris F., Pennesi, Mark E., Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Ali, Manir

PURPOSE. Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 p

Externí odkaz: http://hdl.handle.net/10150/624955
http://arizona.openrepository.com/arizona/handle/10150/624955

Twelve-month Natural History Study of Centrosomal Protein 290 (CEP290)-associated Inherited Retinal Degeneration

Autor: Pierce, Eric A., Ashimatey, Bright S., Jayasundera, Thiran, Hoyng, Carel, Lam, Byron L., Lorenz, Birgit, Kim, Keunpyo, Rashid, Alia, Myers, Rene, Pennesi, Mark E.

Publikováno v: In Ophthalmology Science September-October 2024 4(5)

XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa

Autor: Gregory-Evans, Kevin, Koenekoop, Robert, Sankila, Eeva-Marja K., Bygglin, Henrik, Seitsonen, Sanna, Riikonen, Antti, Meunier, Isabelle, Fischer, M. Dominik, Ochakovski, Alex, Stingl, Katarina, Vaheb, Yousof, Richter, Paul, Wozar, Fabian, Reichel, Felix, Gassel, Caroline, Wolfram, Lasse, Fischer, Nora, Peters, Tobias, Wilhelm, Barbara, Seitz, Immanuel, Holz, Frank, Reinking, Katharina, Clemens, Amelie, Völker, Desiree, Herrmann, Philipp, Birtel, Johannes, Schipper, Pascal, Weber, Constance, Bulirsch, Louisa, Hoyng, Carel, Klaver, Caroline, Phan, T.M.L., Van Huet, Ramon, Boon, Camiel, Nguyen, X.T., Talib, M., Trzcionkowska, Kasia, Tussenbroek, Thomas, MacLaren, Robert E., Taylor, Laura J., Cehajic-Kapetanovic, Jasmina, Josan, Amandeep S., Yusuf, Imran H., Jasani, Kirti, Menghini, Moreno, Nanda, Anika, Rehman, Salwah, Jolly, Jasleen K., Buckley, Thomas M.W., Lotery, Andrew, Thulsidharan, Suresh, Khandhadia, Samir, Tsokolas, Georgios, Black, Graeme, Megaw, Roly, Bishop, Paul, Mukherjee, Rajarshi, Mohla, Aditi, McKibbin, Martin, Mukherjee, Raj, Lam, Byron L., Mendoza-Santiesteban, Carlos, Horowitz, Jason, Tsang, Stephen, Pennesi, Mark E., Yang, Paul, Lauer, Andreas K., Weleber, Richard G., Birch, David, Coors, Lori, Spencer, Rand, Csaky, Karl, Anand, Rajiv, Wang, Yi-Zhong, Gorin, Michael, Stepien, Kimberly, Duncan, Jacque L., Stewart, Jay, Moore, Anthony, Stout, J. Timothy, Weng, Christina, Leung, Ella, Schlle, Tahira, Bakall, Benjamin, Klein, Kendra, Bernstein, Paul, Hartnett, Mary Elizabeth, Mathias, Marc, Siringo, Frank, Pecen, Paula, Aleman, Tomas, McGuire, Albert, Nagiel, Aaron, Larsen, Michael, Ferraz Sallum, Juliana Maria, Ribeiro, Lucas, de Azevedo Amaral, Rebeca, Gow, James A., Li, Jiang, Tsang, So-Fai

Publikováno v: In Ophthalmology Science January-February 2025 5(1)

Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration

Autor: Han, Ji Hoon, Rodenburg, Kim, Hayman, Tamar, Calzetti, Giacomo, Kaminska, Karolina, Quinodoz, Mathieu, Marra, Molly, Wallerich, Sandrine, Allon, Gilad, Nagy, Zoltán Z., Knézy, Krisztina, Li, Yumei, Chen, Rui, Barboni, Mirella Telles Salgueiro, Yang, Paul, Pennesi, Mark E., van den Born, L. Ingeborgh, Varsányi, Balázs, Szabó, Viktória, Sharon, Dror, Banin, Eyal, Ben-Yosef, Tamar, Roosing, Susanne, Koenekoop, Robert K., Rivolta, Carlo

Publikováno v: In Genetics in Medicine June 2024 26(6)

Using Multimodal Imaging to Refine the Phenotype of PRPH2-associated Retinal Degeneration

Autor: Kalaw, Fritz Gerald P., Wagner, Naomi E., de Oliveira, Thiago Barros, Everett, Lesley A., Yang, Paul, Pennesi, Mark E., Borooah, Shyamanga

Publikováno v: In Ophthalmology Retina July 2024