Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

41 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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
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.
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: lopergolo d. J Neurol. 2023 Apr;270(4):2345-2346. doi: 10.1007/s00415-023-11589-2. J Neurol. 2023. PMID: 36795150 No abstract available.
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey.
Leoncini S, Boasiako L, Lopergolo D, Altamura M, Fazzi C, Canitano R, Grosso S, Meloni I, Baldassarri M, Croci S, Renieri A, Mastrangelo M, De Felice C. Leoncini S, et al. Among authors: lopergolo d. Children (Basel). 2023 Aug 24;10(9):1442. doi: 10.3390/children10091442. Children (Basel). 2023. PMID: 37761403 Free PMC article.
Familial Alzheimer's disease associated with heterozygous NPC1 mutation.
Lopergolo D, Bianchi S, Gallus GN, Locci S, Pucci B, Leoni V, Gasparini D, Tardelli E, Chincarini A, Sestini S, Santorelli FM, Zetterberg H, De Stefano N, Mignarri A. Lopergolo D, et al. J Med Genet. 2024 Mar 21;61(4):332-339. doi: 10.1136/jmg-2023-109219. J Med Genet. 2024. PMID: 37989569
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P; Undiagnosed Diseases Network; Ariani F, Renieri A, Mari F, Wangler MF, Arur S, Jiang YH, Yamamoto S, Shashi V, Bellen HJ. Barish S, et al. Among authors: lopergolo d. Hum Mol Genet. 2022 Aug 25;31(17):2934-2950. doi: 10.1093/hmg/ddac085. Hum Mol Genet. 2022. PMID: 35405010 Free PMC article.
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.
41 results