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Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network - EVICR.net.
Lorenz B, Tavares J, van den Born LI, Marques JP, Pilotto E, Stingl K, Charbel Issa P, Leroux D, Dollfus H, Scholl HPN; EVICR.net study group; ERN-EYE study group. Lorenz B, et al. Among authors: dollfus h. Ophthalmic Res. 2023;66(1):550-568. doi: 10.1159/000528716. Epub 2023 Jan 2. Ophthalmic Res. 2023. PMID: 36592621 Free article.
Quality of life, functioning and participation of children and adolescents with visual impairment: A scoping review.
Lanza M, Incagli F, Ceccato C, Reffo ME, Mercuriali E, Parmeggiani F, Pagliano E, Saletti V, Leonardi M, Suppiej A, Dollfus H, LeBreton D, Finger RP, Leroy BP, Zemaitiene R, Nowomiejska K, Guastafierro E. Lanza M, et al. Among authors: dollfus h. Res Dev Disabil. 2024 Jun 12;151:104772. doi: 10.1016/j.ridd.2024.104772. Online ahead of print. Res Dev Disabil. 2024. PMID: 38870675
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
Mancuso M, Lopriore P, Lamperti C, Klopstock T, Rahman S, Licchetta L, Kornblum C, Wortmann SB, Dollfus H, Papadopoulou MT, Arzimanoglou A, Scarpa M, Graessner H, Evangelista T. Mancuso M, et al. Among authors: dollfus h. J Neurol. 2024 Feb;271(2):835-840. doi: 10.1007/s00415-023-12017-1. Epub 2023 Oct 13. J Neurol. 2024. PMID: 37831128 Free PMC article.
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: dollfus h. Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. Brain. 2024. PMID: 38735647 Free PMC article.
IMPROVE 2022 International Meeting on Pathway-Related Obesity: Vision of Excellence.
Kühnen P, Argente J, Clément K, Dollfus H, Dubern B, Farooqi S, de Groot C, Grüters A, Holm JC, Hopkins M, Kleinendorst L, Körner A, Meeker D, Rydén M, von Schnurbein J, Tschöp M, Yeo GSH, Zorn S, Wabitsch M. Kühnen P, et al. Among authors: dollfus h. Clin Obes. 2024 Jun;14(3):e12659. doi: 10.1111/cob.12659. Epub 2024 Apr 11. Clin Obes. 2024. PMID: 38602039
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
Pacot L, Sabbagh A, Sohier P, Hadjadj D, Ye M, Boland-Auge A, Bacq-Daian D, Laurendeau I, Briand-Suleau A, Deleuze JF, Margueron R, Vidaud M, Ferkal S, Parfait B, Vidaud D; NF-France Network; Pasmant E, Wolkenstein P. Pacot L, et al. Br J Dermatol. 2024 Jan 23;190(2):226-243. doi: 10.1093/bjd/ljad390. Br J Dermatol. 2024. PMID: 37831592
274 results