Associated Papers
Renal gelsolin amyloidosis as a rare cause of proteinuria: a case report and literature review.
Wang M et al.
Bmc Nephrology, 2025
Clinical considerations in early-onset cerebral amyloid angiopathy.
Banerjee G et al.
Brain : a Journal of Neurology, 2023
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
Souzeau E et al.
Molecular Genetics & Genomic Medicine, 2022
Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
Mørup SB et al.
Frontiers in Immunology, 2022
A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type.
Mullany S et al.
Human Mutation, 2021
Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis.
Cheong EN et al.
Yonsei Medical Journal, 2021
Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys.
Potrč M et al.
International Journal of Molecular Sciences, 2021
Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation.
Cabral-Macias J et al.
Molecular Vision, 2020
Analyses Mutations in GSN, CST3, TTR, and ITM2B Genes in Chinese Patients With Alzheimer's Disease.
Jiang Y et al.
Frontiers in Aging Neuroscience, 2020
Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.
Mustonen T et al.
European Journal of Human Genetics : Ejhg, 2018
Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy.
Caress JB et al.
Muscle & Nerve, 2017
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations.
Rowczenio DM et al.
Human Mutation, 2014
Renal amyloidosis associated with a novel sequence variant of gelsolin.
Sethi S et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2013
Select a paper to view details