Associated Papers
Isogenic induced pluripotent stem cell line ICGi036-A-1 from a patient with familial hypercholesterolaemia, derived by correcting a pathogenic variant of the gene LDLR c.530C>T.
Zueva AS et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2025
Transgenic iPSC Lines with Genetically Encoded MitoTimer to Study Mitochondrial Biogenesis in Dopaminergic Neurons with Tauopathy.
Nadtochy JA et al.
Biomedicines, 2025
Generation and characterisation of seven induced pluripotent stem cell lines from two patients with Parkinson's disease carrying the pathological variant c.1087G>T of the LGR4 gene.
Podvysotskaya VS et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2025
Generation and characterization of two induced pluripotent stem cell lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal dementia with parkinsonism-17 associated with the pathological variant c.2013T>G in the MAPT gene.
Grigor'eva EV et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2024
Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.
Nan H et al.
Alzheimer's Research & Therapy, 2024
Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation.
Morino H et al.
Movement Disorders Clinical Practice, 2024
Osteopontin drives neuroinflammation and cell loss in MAPT-N279K frontotemporal dementia patient neurons.
Al-Dalahmah O et al.
Cell Stem Cell, 2024
Dissecting the Clinical Heterogeneity and Genotype-Phenotype Correlations of MAPT Mutations: A Systematic Review.
Villa C et al.
Frontiers in Bioscience (landmark Edition), 2024
A novel MAPT variant (E342K) as a cause of familial progressive supranuclear palsy.
Li H et al.
Frontiers in Neurology, 2024
Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.
Do MD et al.
Brain and Behavior, 2023
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Ramos EM et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020
FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G.
Tacik P et al.
Brain Pathology (zurich, Switzerland), 2017
Closing the tau loop: the missing tau mutation.
McCarthy A et al.
Brain : a Journal of Neurology, 2015
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.
Di Fonzo A et al.
Neurology, 2014
Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration.
Kouri N et al.
Acta Neuropathologica, 2014