Show 100 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Estrada-Cuzcano, Alejandro" or (type any "bookEditor issueEditor" and editor="Estrada-Cuz... Add to list Journal Article A1 Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78) Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke (UGent) , Dae-In Chang, et al. (2017) BRAIN. 140. p.287-305 Add to list Journal Article A1 Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement Alejandro Estrada-Cuzcano, Kornelis Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C Falik-Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, et al. (2012) AMERICAN JOURNAL OF HUMAN GENETICS. 90(1). p.102-109 Add to list Journal Article A1 BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome Alejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, Elfride De Baere (UGent) , Thomy de Ravel, Sandro Banfi, Ssusanne Kohl, Carmen Ayuso, Dror Sharon, Carel B Hoyng, et al. (2012) ARCHIVES OF OPHTHALMOLOGY. 130(11). p.1425-1432 Add to list Journal Article A1 IQCB1 Mutations in Patients with Leber Congenital Amaurosis Alejandro Estrada-Cuzcano, Robert K Koenekoop, Frauke Coppieters (UGent) , Susanne Kohl, Irma Lopez, Rob WJ Collin, Elfride De Baere (UGent) , Debbie Roeleveld, Jonah Marek, Antje Bernd, et al. (2011) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 52(2). p.834-839