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Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome.
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.
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Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
de Barcelos IP, Woidill S, Gavazzi F, Modesti NB, Sevagamoorthy A, Vanderver A, Adang L.
de Barcelos IP, et al. Among authors: modesti nb.
Mol Genet Metab. 2024 May;142(1):108346. doi: 10.1016/j.ymgme.2024.108346. Epub 2024 Feb 13.
Mol Genet Metab. 2024.
PMID: 38368708
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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
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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.
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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.
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