Search Results - "Modesti, Nicholson"

The prototypical interferonopathy: Aicardi‐Goutières syndrome from bedside to bench.

Authors: Hofer, Markus J. Modesti, Nicholson Coufal, Nicole G. et al.

Source: Immunological Reviews. Oct2024, Vol. 327 Issue 1, p83-99. 17p.

Systemic complications of Aicardi Goutières syndrome using real-world data.

Authors: Peixoto de Barcelos, Isabella Jan, Amanda K. Modesti, Nicholson et al.

Source: Molecular Genetics & Metabolism. Sep2024, Vol. 143 Issue 1/2, pN.PAG-N.PAG. 1p.

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

Authors: Cusack, Stacy V. Gavazzi, Francesco de Barcelos, Isabella Peixoto et al.

Source: Journal of Child Neurology. Mar/Apr2024, Vol. 39 Issue 3/4, p147-154. 8p.

Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.

Authors: Gavazzi, Francesco Glanzman, Allan M. Woidill, Sarah et al.

Source: Journal of Child Neurology. Aug2023, Vol. 38 Issue 8/9, p518-527. 10p.

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

Authors: Adang, Laura Ann Sevagamoorthy, Anjana Sherbini, Omar et al.

Source: Molecular Genetics & Metabolism. May2024, Vol. 142 Issue 1, pN.PAG-N.PAG. 1p.

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

Authors: de Barcelos, Isabella Peixoto Woidill, Sarah Gavazzi, Francesco et al.

Source: Molecular Genetics & Metabolism. May2024, Vol. 142 Issue 1, pN.PAG-N.PAG. 1p.

Preservation of cognitive skills in Aicardi Goutières syndrome.

Authors: Gavazzi, Francesco Vaia, Ylenia Woidill, Sarah et al.

Source: Molecular Genetics & Metabolism. Apr2024, Vol. 141 Issue 4, pN.PAG-N.PAG. 1p.

Development of a rigorous approach for retrospective natural history studies in leukodystrophies.

Authors: Sevagamoorthy, Anjana Gavazzi, Francesco Sherbini, Omar et al.

Source: Molecular Genetics & Metabolism. Feb2024, Vol. 141 Issue 2, pN.PAG-N.PAG. 1p.

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

Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome.

Authors: Gavazzi F Vaia Y Woidill S et al.

Source: Neurology [Neurology] 2024 Jul 09; Vol. 103 (1), pp. e209541. Date of Electronic Publication: 2024 Jun 10.

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

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Early recognition of patients with leukodystrophies.

Authors: Modesti NB Evans SH Jaffe N et al.

Source: Current problems in pediatric and adolescent health care [Curr Probl Pediatr Adolesc Health Care] 2022 Dec; Vol. 52 (12), pp. 101311. Date of Electronic Publication: 2022 Dec 02.

Publication Type: Review; Journal Article

Journal Info: Publisher: Mosby Country of Publication: United States NLM ID: 101134613 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-3199 (Electronic) Linking ISSN: 15383199 NLM ISO Abbreviation: Curr Probl Pediatr Adolesc Health Care Subsets: MEDLINE