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JIMD Reports|November 7, 2022
Folic acid inhibits 5-methyltetrahydrofolate transport across the blood-cerebrospinal fluid barrier: Clinical biochemical data from two casesTomoyuki Akiyama, Ichiro Kuki, Kiyohiro Kim, et al.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.BMC Medical Genomics|November 7, 2024
SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in JapanTomohiko Ishihara, Akihide Koyama, Naoki Atsuta, 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 HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel diseaseMasahiro Uemura, Yuya Hatano, Hiroaki Nozaki, et al.Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine|June 15, 2023
Preclinical Characterization of the Tau PET Tracer [18F]SNFT-1: Comparison of Tau PET TracersRyuichi Harada, Pradith Lerdsirisuk, Yuki Shimizu, 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