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

Year Number of Results
2010 1
2012 1
2013 1
2014 1
2015 1
2016 1
2017 6
2019 3
2020 4
2021 6
2022 8
2023 4
2024 4

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34 results

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Page 1
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.
Murro V, Banfi S, Testa F, Iarossi G, Falsini B, Sodi A, Signorini S, Iolascon A, Russo R, Mucciolo DP, Caputo R, Bacci GM, Bargiacchi S, Turco S, Fortini S, Simonelli F. Murro V, et al. Among authors: bacci gm. Orphanet J Rare Dis. 2023 Jul 31;18(1):223. doi: 10.1186/s13023-023-02798-z. Orphanet J Rare Dis. 2023. PMID: 37525225 Free PMC article. Review.
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series.
Marziali E, Van Den Broeck F, Bargiacchi S, Fortunato P, Caputo R, Sodi A, De Zaeytijd J, Murro V, Mucciolo DP, Giorgio D, Passerini I, Palazzo V, Peluso F, de Baere E, Zeitz C, Leroy BP, Secci J, Bacci GM. Marziali E, et al. Among authors: bacci gm. Ophthalmic Genet. 2023 Apr;44(2):152-162. doi: 10.1080/13816810.2022.2132514. Epub 2022 Dec 5. Ophthalmic Genet. 2023. PMID: 36469668
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: bacci gm. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826
Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations.
Schuart C, Bassi A, Kapp F, Wieland I, Pagliazzi A, Losch H, Mazzatenta C, Bacci GM, Oranges T, Schanze D, Mohnike K, Nanda A, Fischer J, Zenker M, Happle R. Schuart C, et al. Among authors: bacci gm. Eur J Med Genet. 2022 May;65(5):104472. doi: 10.1016/j.ejmg.2022.104472. Epub 2022 Mar 26. Eur J Med Genet. 2022. PMID: 35351629
Docosahexaenoic acid in ARSACS: observations in two patients.
Ricca I, Tessa A, Trovato R, Bacci GM, Santorelli FM. Ricca I, et al. Among authors: bacci gm. BMC Neurol. 2020 May 28;20(1):215. doi: 10.1186/s12883-020-01803-3. BMC Neurol. 2020. PMID: 32466761 Free PMC article.
Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.
Testa F, Bacci G, Falsini B, Iarossi G, Melillo P, Mucciolo DP, Murro V, Salvetti AP, Sodi A, Staurenghi G, Simonelli F. Testa F, et al. Among authors: bacci g. Eye (Lond). 2024 Apr 16. doi: 10.1038/s41433-024-03065-6. Online ahead of print. Eye (Lond). 2024. PMID: 38627549 Review.
34 results