Ryuta Tanaka

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

Kazushi Aoto, Mitsuhiro Kato, Tenpei Akita et al. · Nature Communications · 2021 · 71 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +15

Identification of novel <i><scp>SNORD118</scp></i> mutations in seven patients with leukoencephalopathy with brain calcifications and cysts

Kazuhiro Iwama, Takeshi Mizuguchi, Jun‐ichi Takanashi et al. · Clinical Genetics · 2017 · 31 citations

Medicine, Molecular Genetics, Neurology +13

Demographic and clinical characteristics of extramammary Paget's disease patients in Japan from 2000 to 2019

Feras M. Ghazawi, Natsuko Iga, Ryuta Tanaka et al. · Journal of the European Academy of Dermatology and Venereology · 2020 · 28 citations

Medicine, Dermatology, Oncology +4

Schuurs‐Hoeijmakers syndrome in two patients from Japan

Yusuke Hoshino, Takashi Enokizono, Kazuo Imagawa et al. · American Journal of Medical Genetics Part A · 2018 · 23 citations

Life Sciences, Genetics, Neurology +10

Novel compound heterozygous LIAS mutations cause glycine encephalopathy

Yoshinori Tsurusaki, Ryuta Tanaka, Shino Shimada et al. · Journal of Human Genetics · 2015 · 21 citations

Life Sciences, Molecular Genetics, Neuroscience +11