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Page 1
Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.
Gavazzi F, Glanzman AM, Woidill S, Formanowski B, Dixit A, Isaacs D, Kornafel T, Ballance E, Pierce SR, Modesti N, Barcelos I, Cusack SV, Jan AK, Flores Z, Sherbini O, Vincent A, D'Aiello R, Lorch SA, DeMauro SB, Jawad A, Vanderver A, Adang L. Gavazzi F, et al. Among authors: modesti n. J Child Neurol. 2023 Aug;38(8-9):518-527. doi: 10.1177/08830738231188753. Epub 2023 Jul 27. J Child Neurol. 2023. PMID: 37499181 Free PMC article.
Early recognition of patients with leukodystrophies.
Modesti NB, Evans SH, Jaffe N, Vanderver A, Gavazzi F. Modesti NB, et al. Curr Probl Pediatr Adolesc Health Care. 2022 Dec;52(12):101311. doi: 10.1016/j.cppeds.2022.101311. Epub 2022 Dec 2. Curr Probl Pediatr Adolesc Health Care. 2022. PMID: 36470810 Review.
Nucleotide metabolism, leukodystrophies, and CNS pathology.
Gavazzi F, Gonzalez CD, Arnold K, Swantkowski M, Charlton L, Modesti N, Dar AA, Vanderver A, Bennett M, Adang LA. Gavazzi F, et al. Among authors: modesti n. J Inherit Metab Dis. 2024 Feb 29. doi: 10.1002/jimd.12721. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38421058
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
Adang LA, Sevagamoorthy A, Sherbini O, Fraser JL, Bonkowsky JL, Gavazzi F, D'Aiello R, Modesti NB, Yu E, Mutua S, Kotes E, Shults J, Vincent A, Emrick LT, Keller S, Van Haren KP, Woidill S, Barcelos I, Pizzino A, Schmidt JL, Eichler F, Fatemi A, Vanderver A. Adang LA, et al. Among authors: modesti nb. Mol Genet Metab. 2024 May;142(1):108453. doi: 10.1016/j.ymgme.2024.108453. Epub 2024 Mar 18. Mol Genet Metab. 2024. PMID: 38522179 Review.
Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome.
Cusack SV, Gavazzi F, de Barcelos IP, Modesti NB, Woidill S, Formanowski B, DeMauro SB, Lorch S, Vincent A, Jawad AF, Estilow T, Glanzman AM, Vanderver A, Adang LA. Cusack SV, et al. Among authors: modesti nb. J Child Neurol. 2024 Mar;39(3-4):147-154. doi: 10.1177/08830738241241786. Epub 2024 Mar 27. J Child Neurol. 2024. PMID: 38532733 Free PMC article.
Microsatellites' mutation modeling through the analysis of the Y-chromosomal transmission: Results of a GHEP-ISFG collaborative study.
Antão-Sousa S, Gusmão L, Modesti NM, Feliziani S, Faustino M, Marcucci V, Sarapura C, Ribeiro J, Carvalho E, Pereira V, Tomas C, de Pancorbo MM, Baeta M, Alghafri R, Almheiri R, Builes JJ, Gouveia N, Burgos G, Pontes ML, Ibarra A, da Silva CV, Parveen R, Benitez M, Amorim A, Pinto N. Antão-Sousa S, et al. Among authors: modesti nm. Forensic Sci Int Genet. 2024 Mar;69:102999. doi: 10.1016/j.fsigen.2023.102999. Epub 2023 Dec 14. Forensic Sci Int Genet. 2024. PMID: 38181588 Free article.
Paternal and maternal mutations in X-STRs: A GHEP-ISFG collaborative study.
Pinto N, Pereira V, Tomas C, Loiola S, Carvalho EF, Modesti N, Maxzud M, Marcucci V, Cano H, Cicarelli R, Januario B, Bento A, Brito P, Burgos G, Paz-Cruz E, Díez-Juárez L, Vannelli S, Pontes ML, Berardi G, Furfuro S, Fernandez A, Sumita D, Bobillo C, García MG, Gusmão L. Pinto N, et al. Among authors: modesti n. Forensic Sci Int Genet. 2020 May;46:102258. doi: 10.1016/j.fsigen.2020.102258. Epub 2020 Feb 5. Forensic Sci Int Genet. 2020. PMID: 32066109
Investigator® HDplex (Qiagen) reference population database for forensic use in Argentina.
Martínez G, Borosky A, Corach D, Llull C, Locarno L, Lojo M, Marino M, Miozzo MC, Modesti N, Pacharoni C, Pilili JP, Ramella MI, Sala A, Schaller C, Vullo C, Toscanini U. Martínez G, et al. Among authors: modesti n. Forensic Sci Int Genet. 2017 Jan;26:91-95. doi: 10.1016/j.fsigen.2016.10.009. Epub 2016 Oct 18. Forensic Sci Int Genet. 2017. PMID: 27816851
29 results