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Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Vecchia SD, Tessa A, Dosi C, Baldacci J, Pasquariello R, Antenora A, Astrea G, Bassi MT, Battini R, Casali C, Cioffi E, Conti G, De Michele G, Ferrari AR, Filla A, Fiorillo C, Fusco C, Gallone S, Germiniasi C, Guerrini R, Haggiag S, Lopergolo D, Martinuzzi A, Melani F, Mignarri A, Panzeri E, Pini A, Pinto AM, Pochiero F, Primiano G, Procopio E, Renieri A, Romaniello R, Sancricca C, Servidei S, Spagnoli C, Ticci C, Rubegni A, Santorelli FM. Vecchia SD, et al. Among authors: lopergolo d. J Neurol. 2022 Jan;269(1):437-450. doi: 10.1007/s00415-021-10792-3. Epub 2021 Sep 6. J Neurol. 2022. PMID: 34487232
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia.
Pinto AM, Papa FT, Frullanti E, Meloni I, Tita R, Caselli R, Fallerini C, Lopergolo D, Cetta F, Mencarelli MA, Bocchia M, Gozzetti A, Renieri A. Pinto AM, et al. Among authors: lopergolo d. Br J Haematol. 2019 Feb;184(4):657-659. doi: 10.1111/bjh.15147. Epub 2018 Feb 20. Br J Haematol. 2019. PMID: 29460960 Free article. No abstract available.
An Italian family carrying a new mutation in the COL4A1 gene.
Russo A, Pinto AM, Lopergolo D, Renieri A, Battisti C. Russo A, et al. Among authors: lopergolo d. J Neurol Sci. 2020 Jul 15;414:116815. doi: 10.1016/j.jns.2020.116815. Epub 2020 Mar 31. J Neurol Sci. 2020. PMID: 32335342 No abstract available.
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
McNeill A, Iovino E, Mansard L, Vache C, Baux D, Bedoukian E, Cox H, Dean J, Goudie D, Kumar A, Newbury-Ecob R, Fallerini C, Renieri A, Lopergolo D, Mari F, Blanchet C, Willems M, Roux AF, Pippucci T, Delpire E. McNeill A, et al. Among authors: lopergolo d. Brain. 2020 Aug 1;143(8):2380-2387. doi: 10.1093/brain/awaa176. Brain. 2020. PMID: 32658972 Free PMC article.
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Mochel F, Rastetter A, Ceulemans B, Platzer K, Yang S, Shinde DN, Helbig KL, Lopergolo D, Mari F, Renieri A, Benetti E, Canitano R, Waisfisz Q, Plomp AS, Huisman SA, Wilson GN, Cathey SS, Louie RJ, Gaudio DD, Waggoner D, Kacker S, Nugent KM, Roeder ER, Bruel AL, Thevenon J, Ehmke N, Horn D, Holtgrewe M, Kaiser FJ, Kamphausen SB, Abou Jamra R, Weckhuysen S, Dalle C, Depienne C. Mochel F, et al. Among authors: lopergolo d. Brain. 2020 Dec 1;143(12):3564-3573. doi: 10.1093/brain/awaa346. Brain. 2020. PMID: 33242881
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong J, Renieri A, Mari F. Lopergolo D, et al. Clin Genet. 2021 Mar;99(3):462-474. doi: 10.1111/cge.13908. Epub 2021 Jan 9. Clin Genet. 2021. PMID: 33368194
A new mutation in DNM2 gene in a large Italian family.
Lopergolo D, Bocci S, Pinto AM, Valentino F, Doddato G, Ginanneschi F, Volpi N, Renieri A, Giannini F. Lopergolo D, et al. Neurol Sci. 2021 Jun;42(6):2509-2513. doi: 10.1007/s10072-020-04972-8. Epub 2021 Jan 18. Neurol Sci. 2021. PMID: 33459893
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Della Vecchia S, Tessa A, Dosi C, Baldacci J, Pasquariello R, Antenora A, Astrea G, Bassi MT, Battini R, Casali C, Cioffi E, Conti G, De Michele G, Ferrari AR, Filla A, Fiorillo C, Fusco C, Gallone S, Germiniasi C, Guerrini R, Haggiag S, Lopergolo D, Martinuzzi A, Melani F, Mignarri A, Panzeri E, Pini A, Pinto AM, Pochiero F, Primiano G, Procopio E, Renieri A, Romaniello R, Sancricca C, Servidei S, Spagnoli C, Ticci C, Rubegni A, Santorelli FM. Della Vecchia S, et al. Among authors: lopergolo d. J Neurol. 2022 Jan;269(1):451. doi: 10.1007/s00415-021-10839-5. J Neurol. 2022. PMID: 34652506 No abstract available.
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.
Lopergolo D, Berti G, Mari F, Bertini E, Rufa A, Battisti C, Sicurelli F, Renieri A, Federico A, Sandhoff K, Malandrini A. Lopergolo D, et al. Neurol Sci. 2022 Apr;43(4):2849-2852. doi: 10.1007/s10072-021-05841-8. Epub 2022 Jan 23. Neurol Sci. 2022. PMID: 35066644
41 results