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Yu Tsuyusaki

Observed names: Tsuyusaki, Yu, Y. Tsuyusaki
ORCID: 0000-0003-2993-6526
Observed ORCID: 0000-0003-2993-6526
OpenAlex ID: A5068363103
Molecular genetic analysis of 30 families with Joubert syndrome
2016 · T. Suzuki, N. Miyake, et al. · Clinical Genetics · 60
WDR45 mutations in three male patients with West syndrome
2016 · Mitsuko Nakashima, Kyoko Takano, et al. · Journal of Human Genetics · 49
Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness
2012 · Hitoshi Osaka, Atsushi Takagi, et al. · Molecular Genetics and Metabolism · 40
Expansion of the phenotype of Kosaki overgrowth syndrome
2017 · Mari Minatogawa, Toshiki Takenouchi, et al. · American Journal of Medical Genetics Part A · 38
1p36 deletion syndrome associated with Prader–Willi‐like phenotype
2010 · Yu Tsuyusaki, Hiroshi Yoshihashi, et al. · Pediatrics International · 32
Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience
2022 · Takayuki Miyamoto, Yoshitaka Honda, et al. · Frontiers in Immunology · 29
Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia
2011 · Yu Tsuyusaki, Hiroko Shimbo, et al. · Brain and Development · 25
Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report
2016 · Rieko Sato, Jun-ichi Takanashi, et al. · PEDIATRICS · 17
Novel CLTC variants cause new brain and kidney phenotypes
2021 · Toshiyuki Itai, Satoko Miyatake, et al. · Journal of Human Genetics · 14
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy
2014 · Kyoko Takano, Yu Tsuyusaki, et al. · Brain and Development · 12
Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children
2016 · Tomoyuki Akiyama, Yumiko Hayashi, et al. · Clinica Chimica Acta · 11
Three-Year Longitudinal Motor Function and Disability Level of Acute Flaccid Myelitis
2020 · Pin Fee Chong, Ryutaro Kira, et al. · Pediatric Neurology · 10
Epilepsy in Christianson syndrome: Two cases of Lennox–Gastaut syndrome and a review of literature
2019 · Azusa Ikeda, Ayako Yamamoto, et al. · Epilepsy & Behavior Reports · 10
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Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report
2018 · Kazushi Ichikawa, Megumi Tsuji, et al. · JIMD Reports · 9
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
2022 · Masamune Sakamoto, Kazuhiro Iwama, et al. · Genetics in Medicine · 8
The efficacy of a medium-chain triglyceride ketogenic diet for drug-resistant epilepsy with PIGA germline variant
2023 · Azusa Ikeda, Hiroyuki Nagafuchi, et al. · Seizure · 6
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Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy
2023 · Megumi Tsuji, Azusa Ikeda, et al. · Brain and Development · 6
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Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome
2023 · Shin Nabatame, Junpei Tanigawa, et al. · Journal of the Neurological Sciences · 6
Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan
2025 · Tamaki Ikegawa, Kana Osada, et al. · Brain and Development · 5
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Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan
2023 · Azusa Ikeda, Tatsuro Kumaki, et al. · Frontiers in Neurology · 5
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Late‐onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATP ase 6 gene
2019 · Kazushi Ichikawa, Yu Tsuyusaki, et al. · Pediatrics International · 5
Two siblings with acute necrotizing encephalopathy associated with variants of LARS1
2024 · Takeshi Uehara, Eijun Seki, et al. · American Journal of Medical Genetics Part A · 4
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Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7
2024 · Yukiko Kuroda, Takuya Naruto, et al. · Journal of Human Genetics · 4
Clinical characteristics of children and adults with anti-N-methyl-D-aspartate receptor encephalitis
2020 · Ryohei Norioka, Satoko Kumada, et al. · Clinical Neurology and Neurosurgery · 4
Elevation of brain gamma‐aminobutyric acid levels is associated with vigabatrin‐associated brain abnormalities on magnetic resonance imaging
2022 · Azusa Ikeda, Moyoko Tomiyasu, et al. · Epilepsy Research · 3
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Works count: 35
Citation count: 421
H-index: 11
I10-index: 13
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