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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.
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. 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.
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. J Inherit Metab Dis. 2024 Feb 29. doi: 10.1002/jimd.12721. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38421058
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.
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.