Kazuki Watanabe
6PUBLICATIONS
12CO-AUTHORS
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Publications (6)
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|Aug 21, 2025
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant.Kazuki Watanabe, Tatsuya Ema, Kenji Shimizu
|Dec 15, 2023
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.Ryota Kawakami, Takuya Hiraide, Kazuki Watanabe
|Nov 22, 2023
A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.Kazuki Watanabe, Kazuo Kubota, Mitsuko Nakashima
|Nov 16, 2022
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo.Kazuki Watanabe, Mitsuko Nakashima, Rie Wakatsuki
|Jun 06, 2022
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.Marina Hashiguchi, Yukifumi Monden, Yasuyuki Nozaki
|Jul 02, 2021
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.Kazuki Watanabe, Mitsuko Nakashima, Satoko Kumada
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Frequent Collaborators
6 joint publications
Hirotomo Saitsu
5 joint publications
Mitsuko Nakashima
1 joint publications
Takanori Yamagata
1 joint publications
Hitoshi Osaka
1 joint publications
Ryota Kawakami
1 joint publications
Takuya Hiraide
1 joint publications
Sachiko Miyamoto
1 joint publications
Kimiyoshi Sakaguchi
1 joint publications
Keita Yamashita
1 joint publications
Tokiko Fukuda
