Takanori Yamagata

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 8

Top Topics

Intellectual Disability

Top Venues

Human genome variation

Brain communications

Neuropathology : official journal of the Japanese Society of Neuropathology

This page only lists publications with an associated author ORCID identifier.

Publications

Marina Hashiguchi, Yukifumi Monden, Yasuyuki Nozaki, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Takanori Yamagata, Hitoshi Osaka
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia. Human genome variation 9 (1) (2022)
Karin Kojima, Takahito Wada, Hiroko Shimbo, Takahiro Ikeda, Eriko F Jimbo, Hirotomo Saitsu, Naomichi Matsumoto, Takanori Yamagata
The ATRX splicing variant c.21-1G>A is asymptomatic. Human genome variation 9 (1) (2022)
Kiwako Tsukida, Shin-Ichi Muramatsu, Hitoshi Osaka, Takanori Yamagata, Kazuhiro Muramatsu
WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction. Brain communications 4 (6) (2022)
Mizuki Kobayashi, Yuichi Suzuki, Maki Nodera, Ayako Matsunaga, Masakazu Kohda, Yasushi Okazaki, Kei Murayama, Takanori Yamagata, Hitoshi Osaka
A Japanese patient with neonatal biotin-responsive basal ganglia disease. Human genome variation 9 (1) (2022)
Kiwako Tsukida, Shin-Ichi Muramatsu, Hitoshi Osaka, Takanori Yamagata, Kazuhiro Muramatsu
WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction. Brain communications 4 (6) (2022)
Yoshiyuki Onuki, Sayaka Ono, Takeshi Nakajima, Karin Kojima, Naoyuki Taga, Takahiro Ikeda, Mari Kuwajima, Yoshie Kurokawa, Mitsuhiro Kato, Kensuke Kawai, Hitoshi Osaka, Toshihiko Sato, Shin-Ichi Muramatsu, Takanori Yamagata
Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic l-amino acid decarboxylase deficiency. Brain communications 3 (3) (2021)
Kei Wakabayashi, Hitoshi Osaka, Karin Kojima, Taichi Imaizumi, Toshiyuki Yamamoto, Takanori Yamagata
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene. Human genome variation 8 (1) (2021)
Tsuyoshi Kodachi, Shizuko Matsumoto, Masashi Mizuguchi, Hitoshi Osaka, Nobuyuki Kanai, Eiji Nanba, Kousaku Ohno, Takanori Yamagata
Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C. Neuropathology : official journal of the Japanese Society of Neuropathology 37 (5) (2017)