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Neurology. Genetics|February 28, 2025
"Chocolate Chip Sign" on Susceptibility-Weighted Imaging: A Novel Neuroimaging Biomarker for HTRA1-Related Cerebral Small Vessel DiseaseShoichiro Ando, Rie Saito, Sho Kitahara, et al.Scientific Reports|January 23, 2026
ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel diseaseSho Kitahara, Shoichiro Ando, Masahiro Uemura, et al.Journal of Neurology, Neurosurgery, and Psychiatry|October 19, 2022
High frequency of <i>HTRA1</i> AND <i>ABCC6</i> mutations in Japanese patients with adult-onset cerebral small vessel diseaseMasahiro Uemura, Yuya Hatano, Hiroaki Nozaki, et al.Frontiers in Neurology|July 29, 2020
<i>HTRA1</i>-Related Cerebral Small Vessel Disease: A Review of the LiteratureMasahiro Uemura, Hiroaki Nozaki, Taisuke Kato, et al.Brain Sciences|June 28, 2023
Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying <i>NOTCH2NLC</i> Repeat ExpansionYusran Ady Fitrah, Yo Higuchi, Norikazu Hara, et al.The Journal of Clinical Investigation|November 15, 2021
Candesartan prevents arteriopathy progression in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy modelTaisuke Kato, Ri-Ichiroh Manabe, Hironaka Igarashi, et al.Nature Communications|June 1, 2024
Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humansSamuel D Chauvin, Shoichiro Ando, Joe A Holley, et al.Pageof 2