Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2) von Porto, Fernanda B. O., Perrault, Isabelle, Hicks, David, Rozet, Jean-Michel, Hanoteau, Noëlle, Hanein, Sylvain, Kaplan, Josseline, Alain Sahel, José

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Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients von Sallum, JMF, Motta, FL, Arno, G, Porto, FBO, Resende, RG, Belfort, R

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Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation von Porto, Fernanda B.O, Mack, Geneviève, Sterboul, Marie-Josèphe, Lewin, Patricia, Flament, Jacques, Sahel, José, Dollfus, Hélène

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Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy von Bertrand, RE, Wang, J, Xiong, KH, Thangavel, C, Qian, X, Ba-Abbad, R, Liang, Q, Simões, RT, Sampaio, SAM, Carss, KJ, Lucy Raymond, F, Robson, AG, Webster, AR, Arno, G, Porto, FBO, Chen, R

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