Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population.
Furuta Y et al.
Npj Genomic Medicine, 2024
A systematic review and meta-analysis of GFAP gene variants in Alexander disease.
Grossi A et al.
Scientific Reports, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.
Monticelli M et al.
European Journal of Medical Genetics, 2021
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
Exploring the selective vulnerability in Alzheimer disease using tissue specific variant analysis.
Akila Parvathy Dharshini S et al.
Genomics, 2019
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.
Tonduti D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016
The ocular motor features of adult-onset alexander disease: a case and review of the literature.
Pfeffer G et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2011
A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
Harris SE et al.
Bmc Genetics, 2007
Propensity for paternal inheritance of de novo mutations in Alexander disease.
Li R et al.
Human Genetics, 2006
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.
Gorospe JR et al.
Neurology, 2002
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.
Brenner M et al.
Nature Genetics, 2001