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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, Ciof 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: pinto am. J Neurol. 2023 Apr;270(4):2345-2346. doi: 10.1007/s00415-023-11589-2. J Neurol. 2023. PMID: 36795150 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: pinto am. 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.
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.
Currò A, Doddato G, Bruttini M, Zollino M, Marangi G, Zappella M, Renieri A, Pinto AM. Currò A, et al. Among authors: pinto am. Eur J Med Genet. 2021 Jan;64(1):104102. doi: 10.1016/j.ejmg.2020.104102. Epub 2020 Nov 18. Eur J Med Genet. 2021. PMID: 33220470
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. Among authors: pinto am. Neurol Sci. 2021 Jun;42(6):2509-2513. doi: 10.1007/s10072-020-04972-8. Epub 2021 Jan 18. Neurol Sci. 2021. PMID: 33459893
Clinical, molecular and glycophenotype insights in SLC39A8-CDG.
Bonaventura E, Barone R, Sturiale L, Pasquariello R, Alessandrì MG, Pinto AM, Renieri A, Panteghini C, Garavaglia B, Cioni G, Battini R. Bonaventura E, et al. Among authors: pinto am. Orphanet J Rare Dis. 2021 Jul 10;16(1):307. doi: 10.1186/s13023-021-01941-y. Orphanet J Rare Dis. 2021. PMID: 34246313 Free PMC article.
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: pinto am. J Neurol. 2022 Jan;269(1):437-450. doi: 10.1007/s00415-021-10792-3. Epub 2021 Sep 6. J Neurol. 2022. PMID: 34487232
270 results