Yu Katata

Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation

Masahiko Nishitani‐Isa, Kojiro Mukai, Yoshitaka Honda et al. · The Journal of Experimental Medicine · 2022 · 40 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities

Yuko Watanabe, Kosuke Shido, Tetsuya Niihori et al. · American Journal of Medical Genetics Part A · 2015 · 27 citations

Medicine, Genetics, Oncology +17

Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet

Yurika Numata‐Uematsu, Mitsugu Uematsu, Toshiyuki Yamamoto et al. · Molecular Genetics and Metabolism Reports · 2021 · 13 citations · Full text

Life Sciences, Neurology, Neuroscience +17

A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor

Saki Uneoka, Tomoko Kobayashi, Yurika Numata‐Uematsu et al. · Pediatric Neurology · 2023 · 12 citations

Life Sciences, Genetics, Molecular Genetics +12

Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan

Yu Katata, Mitsugu Uematsu, Hiroki Sato et al. · Brain and Development · 2015 · 10 citations

Life Sciences, Genetics, Neuroscience +6