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Page 1
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: meunier i. Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. Brain. 2024. PMID: 38735647 Free PMC article.
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev Y, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski M, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent A, Siskind CE, Traboulsi EI, Blackstone C, Sisk R, Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: meunier i. bioRxiv [Preprint]. 2023 Jun 11:2023.06.09.544373. doi: 10.1101/2023.06.09.544373. bioRxiv. 2023. Update in: Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055 PMID: 37333224 Free PMC article. Updated. Preprint.
XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa.
MacLaren RE, Duncan JL, Fischer MD, Lam BL, Meunier I, Pennesi ME, Sankila EK, Gow JA, Li J, Tsang SF; XOLARIS Study Group. MacLaren RE, et al. Among authors: meunier i. Ophthalmol Sci. 2024 Aug 13;5(1):100595. doi: 10.1016/j.xops.2024.100595. eCollection 2025 Jan-Feb. Ophthalmol Sci. 2024. PMID: 39493534 Free PMC article.
An ontological foundation for ocular phenotypes and rare eye diseases.
Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A, Robinson PN, Dollfus H; ERN-EYE Ontology Study Group. Sergouniotis PI, et al. Orphanet J Rare Dis. 2019 Jan 9;14(1):8. doi: 10.1186/s13023-018-0980-6. Orphanet J Rare Dis. 2019. PMID: 30626441 Free PMC article.
The phenotypic spectrum of CEP250 gene variants.
Courdier C, Dhaenens CM, Grunewald O, Guerrot AM, Audo I, Lecleire-Collet A, Amstutz-Montadert I, Gad S, Lapeyre G, Zanlonghi X, Bonneau D, Fradin M, Le Meur G, Marlin S, Blanc P, Roux AF, Meunier I, Michaud V. Courdier C, et al. Among authors: meunier i. Ophthalmic Genet. 2024 Nov 28:1-8. doi: 10.1080/13816810.2024.2434045. Online ahead of print. Ophthalmic Genet. 2024. PMID: 39610034
Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration.
Antropoli A, Bianco L, Romano F, Trinco A, Arrigo A, Benadji A, Atia R, Palacci O, Dagostinoz D, Devisme C, Condroyer C, Antonio A, Bosello F, Casati S, Salvetti AP, Zaffalon C, Gaudric A, Sahel JA, Staurenghi G, Bandello F, Sennlaub F, Zeitz C, Meunier I, Battaglia Parodi M, Audo I. Antropoli A, et al. Among authors: meunier i. Prog Retin Eye Res. 2025 Jan;104:101320. doi: 10.1016/j.preteyeres.2024.101320. Epub 2024 Nov 25. Prog Retin Eye Res. 2025. PMID: 39603590 Free article. Review.
Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy.
Damodar K, Dubois G, Guillou L, Mamaeva D, Pequignot M, Erkilic N, Sanjurjo-Soriano C, Boukhaddaoui H, Bernex F, Bocquet B, Vialaret J, Arsenijevic Y, Redmond TM, Hirtz C, Meunier I, Brabet P, Kalatzis V. Damodar K, et al. Among authors: meunier i. Mol Ther. 2024 Dec 4;32(12):4319-4336. doi: 10.1016/j.ymthe.2024.10.004. Epub 2024 Oct 9. Mol Ther. 2024. PMID: 39385467 Free PMC article.
Differential pathogenetic mechanisms of mutations in helix 2 and helix 6 of rhodopsin.
Bighinati A, D'Alessandro S, Felline A, Zeitz C, Bocquet B, Casarini L, Kalatzis V, Meunier I, Fanelli F, Manes G, Marigo V. Bighinati A, et al. Among authors: meunier i. Int J Biol Macromol. 2024 Nov;279(Pt 2):135089. doi: 10.1016/j.ijbiomac.2024.135089. Epub 2024 Aug 26. Int J Biol Macromol. 2024. PMID: 39197629 Free article.
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.
Igelman AD, White E, Tayyib A, Everett L, Vincent A, Heon E, Zeitz C, Michaelides M, Mahroo OA, Katta M, Webster A, Preising M, Lorenz B, Khateb S, Banin E, Sharon D, Luski S, Van Den Broeck F, Leroy BP, De Baere E, Walraedt S, Stingl K, Kuehlewein L, Kohl S, Reith M, Fulton A, Raghuram A, Meunier I, Dollfus H, Aleman TS, Bedoukian EC, O'Neil EC, Krauss E, Vincent A, Jordan C, Iannaccone A, Sen P, Sundaramurthy S, Nagasamy S, Balikova I, Casteels I, Borooah S, Yassin S, Nagiel A, Schwartz H, Zanlonghi X, Gottlob I, McLean RJ, Munier FL, Stephenson A, Sisk R, Koenekoop R, Wilson LB, Fredrick D, Choi D, Yang P, Pennesi ME. Igelman AD, et al. Among authors: meunier i. Br J Ophthalmol. 2024 Jul 30:bjo-2023-323747. doi: 10.1136/bjo-2023-323747. Online ahead of print. Br J Ophthalmol. 2024. PMID: 39079892
150 results