Associated Papers
Hereditary gelsolin amyloidosis: a rare cause of cranial, peripheral and autonomic neuropathies linked to D187N and Y447H substitutions.
Mendelson L et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2023
Clinical considerations in early-onset cerebral amyloid angiopathy.
Banerjee G et al.
Brain : a Journal of Neurology, 2023
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
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
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
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