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Keitaro Yamada · SciRah

Researcher profile · Semantic Scholar

Keitaro Yamada

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Keitaro Yamada — researcher profile on SciRah

h-index: 12
Works: 31
Citations: 445

Most-cited papers

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder
T. Mizuguchi, M. Nakashima, M. Kato, Keitaro Yamada +13 more
2017Journal of Human Genetics66 citations
Semantic Scholar
Diagnostic accuracy of blood and CSF lactate in identifying children with mitochondrial diseases affecting the central nervous system.
Keitaro Yamada, Y. Toribe, K. Yanagihara, Toshiyuki Mano +2 more
2012Brain & development (Tokyo. 1979)45 citations
Semantic Scholar
Successful treatment of neonatal herpes simplex-type 1 infection complicated by hemophagocytic lymphohistiocytosis and acute liver failure.
Keitaro Yamada, Yutaka Yamamoto, A. Uchiyama, R. Ito +7 more
2008Tohoku journal of experimental medicine41 citations Open access
Semantic Scholar
Predictive value of EEG findings at control of epileptic spasms for seizure relapse in patients with West syndrome.
Keitaro Yamada, Y. Toribe, T. Kimizu, S. Kimura +5 more
2014Seizure31 citations Open access
Semantic Scholar
Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency.
Gai-Xiu Zhang, T. Fukao, Satomi Sakurai, Keitaro Yamada +2 more
2006Molecular Genetics and Metabolism30 citations
Semantic Scholar
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review
Kazuki Watanabe, M. Nakashima, S. Kumada, H. Mashimo +4 more
2021Journal of Human Genetics21 citations
Semantic Scholar
Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.
Keitaro Yamada, T. Fukao, Gai-Xiu Zhang, Satomi Sakurai +3 more
2007Molecular Genetics and Metabolism21 citations
Semantic Scholar
A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency.
T. Fukao, Satomi Sakurai, M. Rolland, M. Zabot +3 more
2006Molecular Genetics and Metabolism21 citations
Semantic Scholar
Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure.
Satomi Sakurai, T. Fukao, A. Haapalainen, Gai-Xiu Zhang +9 more
2007Molecular Genetics and Metabolism19 citations Open access
Semantic Scholar
Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations.
N. Kurahashi, N. Miyake, Seiji Mizuno, Eriko Koshimizu +10 more
2017Brain & development (Tokyo. 1979)18 citations Open access
Semantic Scholar
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.
K. Maruyama, S. Ogaya, N. Kurahashi, Ayako Umemura +5 more
2016Brain & development (Tokyo. 1979)13 citations
Semantic Scholar
Clinical aspects of very‐low‐birthweight infants showing reopening of ductus arteriosus
A. Uchiyama, H. Nagasawa, Yutaka Yamamoto, Koji Tatebayashi +4 more
2011Pediatrics International13 citations
Semantic Scholar
Prolonged Elevation of Serum Neuron-Specific Enolase in Children After Clinical Diagnosis of Brain Death
Yasuhiro Suzuki, Y. Mogami, Y. Toribe, Keitaro Yamada +3 more
2012Journal of Child Neurology11 citations
Semantic Scholar
Efficacy of long‐term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series
S. Baba, Tohru Okanishi, Yoichiro Homma, Takeshi Yoshida +20 more
2021Epilepsia Open9 citations Open access
Semantic Scholar
MRI findings and steroid therapy for neuralgic amyotrophy in children.
Keitaro Yamada, Toshiyuki Mano, Y. Toribe, K. Yanagihara +1 more
2011Pediatric Neurology9 citations
Semantic Scholar
Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter
Keitaro Yamada, A. Uchiyama, Mayuki Arai, Kuniko Kubodera +5 more
2009Congenital Anomalies9 citations
Semantic Scholar
Current status of surviving patients with arginase 1 deficiency in Japan
J. Kido, S. Matsumoto, Eiko Takeshita, Chiemi Hayasaka +7 more
2021Molecular Genetics and Metabolism Reports8 citations Open access
Semantic Scholar
Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy
M. Fukada, Keitaro Yamada, S. Eda, Ken Inoue +4 more
2019Molecular Genetics & Genomic Medicine8 citations Open access
Semantic Scholar
The effects of co-medications on lamotrigine clearance in Japanese children with epilepsy.
T. Takeuchi, J. Natsume, H. Kidokoro, Naoko Ishihara +15 more
2016Brain & development (Tokyo. 1979)8 citations
Semantic Scholar
[Successful treatment with additional plasmapheresis for the exacerbation of acute neurological symptoms in a girl with multiple sclerosis].
Y. Mogami, Keitaro Yamada, Y. Toribe, K. Yanagihara +2 more
2011No to hattatsu = Brain and development8 citations
Semantic Scholar
Effectiveness of lacosamide in children and young adults previously treated with other sodium channel blockers.
Takeshi Suzuki, J. Natsume, Sumire Kumai, Y. Maki +11 more
2021Epilepsy & Behavior7 citations Open access
Semantic Scholar
Vitamin K-deficient intracranial hemorrhage as the first symptom of cytomegalovirus hepatitis with cholestasis.
Keitaro Yamada, T. Fukao, Hiroko Suzuki, R. Inoue +2 more
2007Tohoku journal of experimental medicine7 citations Open access
Semantic Scholar
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
M. Sakamoto, Kazuhiro Iwama, M. Sasaki, A. Ishiyama +65 more
2022Genetics in Medicine5 citations Open access
Semantic Scholar
Thalamic lesions in acute encephalopathy with biphasic seizures and late reduced diffusion.
N. Kurahashi, Takeshi Tsuji, T. Kato, S. Ogaya +9 more
2014Pediatric Neurology5 citations
Semantic Scholar
Is hiragana decoding impaired in children with periventricular leukomalacia?
N. Kurahashi, Yukiko Futamura, Norie Nonobe, S. Ogaya +8 more
2018Brain & development (Tokyo. 1979)4 citations
Semantic Scholar
[Successful treatment with intravenous steroid pulse therapy of a boy with recurrent idiopathic sixth nerve palsy].
Keitaro Yamada, T. Kimizu, S. Kimura, T. Ikeda +3 more
2014No to hattatsu = Brain and development4 citations
Semantic Scholar
Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder
T. Mizuguchi, M. Nakashima, M. Kato, Keitaro Yamada +13 more
2017Journal of Human Genetics2 citations Open access
Semantic Scholar
A Novel Constitutively Active c.98G > C, p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization
Y. Tsuneura, Taeko Kawai, Keitaro Yamada, S. Aoki +8 more
2023Human Mutation1 citations Open access
Semantic Scholar
[Changes of brain edema after initiation of mild hypothermia therapy in children].
Keitaro Yamada, Toshiyuki Mano, Yu Inada, Y. Mogami +4 more
2011No to hattatsu = Brain and development1 citations
Semantic Scholar
Peculiar Clinical Course of a Boy with Post-traumatic Self-induced Seizures
Y. Toribe, Keitaro Yamada, Y. Mogami, K. Yanagihara +2 more
20101 citations Open access
Semantic Scholar
[Two pediatric cases of chronic progressive subdural hematoma with brain atrophy following acute encephalitis/encephalopathy requiring surgical hematoma removal].
Keitaro Yamada, H. Kurahashi, S. Ogaya, N. Kurahashi +5 more
2016No to hattatsu = Brain and development0 citations
Semantic Scholar

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K. Yanagihara×8
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K. Yanagihara — researcher profile on SciRah
Yasuhiro Suzuki×8
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Yasuhiro Suzuki — researcher profile on SciRah
Toshiyuki Mano×7
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Toshiyuki Mano — researcher profile on SciRah
K. Maruyama×7
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H. Saitsu — researcher profile on SciRah

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Y. Toribe — researcher profile on SciRah

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T. Fukao — researcher profile on SciRah

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Y. Mogami — researcher profile on SciRah

N. Kurahashi×6

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N. Kurahashi — researcher profile on SciRah

N. Matsumoto×5

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N. Matsumoto — researcher profile on SciRah

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N. Kondo — researcher profile on SciRah

M. Nakashima×4

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M. Nakashima — researcher profile on SciRah