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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 1
2007 1
2008 4
2009 5
2010 3
2011 1
2012 4
2013 3
2014 3
2015 5
2016 7
2017 8
2018 9
2019 8
2020 4
2021 10
2022 9
2023 3
2024 4

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86 results

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Page 1
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK. Heath Jeffery RC, et al. Among authors: ziccardi l. Invest Ophthalmol Vis Sci. 2024 May 1;65(5):22. doi: 10.1167/iovs.65.5.22. Invest Ophthalmol Vis Sci. 2024. PMID: 38743414 Free PMC article.
Genotypic and phenotypic characterization of a cohort of patients affected by rod CNG channel-associated retinitis pigmentosa.
Colombo L, Bonetti G, Maltese PE, Iarossi G, Ziccardi L, Fogagnolo P, De Ruvo V, Murro V, Giorgio D, Falsini B, Placidi G, Martella S, Galantin E, Bertelli M, Rossetti L. Colombo L, et al. Among authors: ziccardi l. Ophthalmic Res. 2024 May 4. doi: 10.1159/000538746. Online ahead of print. Ophthalmic Res. 2024. PMID: 38705136 Free article.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Brugger M, et al. Among authors: ziccardi l. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28. Am J Hum Genet. 2024. PMID: 38423010 Free PMC article.
Retinal and Visual Pathways Involvement in Carriers of Friedreich's Ataxia.
Ziccardi L, Barbano L, Antonelli G, Cioffi E, Di Renzo A, Gioiosa V, Marcotulli C, Grzybowski A, Casali C, Parisi V. Ziccardi L, et al. Diagnostics (Basel). 2022 Dec 12;12(12):3135. doi: 10.3390/diagnostics12123135. Diagnostics (Basel). 2022. PMID: 36553143 Free PMC article.
Morpho-Functional Macular Assessment in a Case of Facioscapulohumeral Muscular Dystrophy: Photoreceptor Degeneration as Possible Cause for Reduced Visual Acuity over Three Years of Follow-Up.
Parravano M, Costanzo E, Barbano L, Viggiano P, De Geronimo D, Antonelli G, Parisi V, Varano M, Ziccardi L. Parravano M, et al. Among authors: ziccardi l. Diagnostics (Basel). 2022 Nov 28;12(12):2977. doi: 10.3390/diagnostics12122977. Diagnostics (Basel). 2022. PMID: 36552982 Free PMC article.
86 results