Work

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

Year: 2024

Type: article

Study design: Observational Study

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2024.108346

Authors: Isabella Peixoto de Barcelos, Sarah Woidill, Francesco Gavazzi, Nicholson B. Modesti, Anjana Sevagamoorthy, Adeline Vanderver, Laura Adang

Institutions: Children's Hospital of Philadelphia, University of Pennsylvania

Language: English

Topic: interferon and immune responses

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Eli Lilly and Company, Gilead Sciences, Biogen, Association Européenne contre les Leucodystrophies, National Institutes of Health, National Institute of Neurological Disorders and Stroke

Awards: : Clinical Outcomes in Aicardi Goutières Syndrome, Clinical measures in Aicardi Goutieres Syndrome, Global Leukodystrophy Initiative Clinical Trials Network (GLIA- CTN)

OpenAlex ID: W4391782949

FWCI: 1.995

Cites: 22

Cited by: 12

Related to: 10