Takanori Yamagata
8PUBLICATIONS
13CO-AUTHORS
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Publications (8)
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|May 30, 2025
Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly.Hiroko Wakabayashi, Ayumi Matsumoto, Sakiko Komori
|Feb 08, 2023
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.Kiwako Tsukida, Shin-Ichi Muramatsu, Hitoshi Osaka
|Sep 29, 2022
A Japanese patient with neonatal biotin-responsive basal ganglia disease.Mizuki Kobayashi, Yuichi Suzuki, Maki Nodera
|Sep 14, 2022
The ATRX splicing variant c.21-1G>A is asymptomatic.Karin Kojima, Takahito Wada, Hiroko Shimbo
|Jun 06, 2022
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.Marina Hashiguchi, Yukifumi Monden, Yasuyuki Nozaki
|Aug 23, 2021
Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic l-amino acid decarboxylase deficiency.Yoshiyuki Onuki, Sayaka Ono, Takeshi Nakajima
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Frequent Collaborators
3 joint publications
Hitoshi Osaka
2 joint publications
Hirotomo Saitsu
1 joint publications
Kei Wakabayashi
1 joint publications
Toshiyuki Yamamoto
1 joint publications
Yoshie Kurokawa
1 joint publications
Shin-Ichi Muramatsu
1 joint publications
Kazuki Watanabe
1 joint publications
Mitsuko Nakashima
1 joint publications
Takahito Wada
1 joint publications
Yasushi Okazaki
