Associated Papers
Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.
Nan H et al.
Alzheimer's Research & Therapy, 2024
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
38284445 (PubMed )
Supplement: MGG3-12-e2357-s005.xlsx › Sheet1
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS
Motor neuron TDP-43 proteinopathy in progressive supranuclear palsy and corticobasal degeneration.
Riku Y et al.
Brain : a Journal of Neurology, 2022
Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.
Park JE et al.
Neurobiology of Aging, 2020
Genetic and functional characters of GRN p.T487I mutation in Taiwanese patients with atypical parkinsonian disorders.
Chang KH et al.
Parkinsonism & Related Disorders, 2018
Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome.
Yabe I et al.
Scientific Reports, 2018
Mechanisms of granulin deficiency: lessons from cellular and animal models.
Kleinberger G et al.
Molecular Neurobiology, 2013
Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS.
Ogaki K et al.
Parkinsonism & Related Disorders, 2013
A thorough assessment of benign genetic variability in GRN and MAPT.
Guerreiro RJ et al.
Human Mutation, 2010
Serum progranulin is not associated with rs5848 polymorphism in Korean patients with neurodegenerative diseases.
Jung NY et al.
Plos One, 0
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