Search Results - "Modesti NB"

Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome.

Authors: Cusack SV Gavazzi F de Barcelos IP et al.

Source: Journal of child neurology [J Child Neurol] 2024 Mar; Vol. 39 (3-4), pp. 147-154. Date of Electronic Publication: 2024 Mar 27.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.

Authors: Adang LA Sevagamoorthy A Sherbini O et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108453. Date of Electronic Publication: 2024 Mar 18.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).

Authors: de Barcelos IP Woidill S Gavazzi F et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108346. Date of Electronic Publication: 2024 Feb 13.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Advancing CNS Therapeutics: Enhancing Neurological Disorders with Nanoparticle-Based Gene and Enzyme Replacement Therapies.

Authors: Liu S Li H Xi S et al.

Source: International journal of nanomedicine [Int J Nanomedicine] 2025 Feb 04; Vol. 20, pp. 1443-1490. Date of Electronic Publication: 2025 Feb 04 (Print Publication: 2025).

Publication Type: Journal Article; Review

Journal Info: Publisher: DOVE Medical Press Country of Publication: New Zealand NLM ID: 101263847 Publication Model: eCollection Cited Medium: Internet ISSN: 1178-2013 (Electronic) Linking ISSN: 11769114 NLM ISO Abbreviation: Int J Nanomedicine Subsets: MEDLINE

Nucleotide metabolism, leukodystrophies, and CNS pathology.

Authors: Gavazzi F Gonzalez CD Arnold K et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Sep; Vol. 47 (5), pp. 860-875. Date of Electronic Publication: 2024 Feb 29.

Publication Type: Journal Article; Review; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE