Associated Papers
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Altered behaviour and immune response in mice with NHLRC2 p.Asp148Tyr variant.
Hiltunen AE et al.
Brain, Behavior, & Immunity - Health, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Case Report: Clinical manifestations and treatment of two Chinese patients with FINCA syndrome carrying a novel variant of NHLRC2.
Liu Y et al.
Frontiers in Pediatrics, 2024
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Sczakiel HL et al.
European Journal of Human Genetics : Ejhg, 2023
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.
Tallgren A et al.
Frontiers in Neuroscience, 2023
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
Levchenko O et al.
International Journal of Molecular Sciences, 2022
FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.
Badura-Stronka M et al.
Molecular Genetics & Genomic Medicine, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.
Rapp CK et al.
Clinical Genetics, 2021
Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease.
Hiltunen AE et al.
Molecular Medicine (cambridge, Mass.), 2020
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome.
Brodsky NN et al.
Journal of Human Genetics, 2020
Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease.
Paakkola T et al.
Human Molecular Genetics, 2018
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
Uusimaa J et al.
Acta Neuropathologica, 2018
Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease.
Biterova E et al.
Plos One, 2018
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Reinhold WC et al.
Plos One, 2014