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Ayumi Matsumoto

Observed names: A. Matsumoto, Matsumoto Ayumi
ORCID: 0000-0002-0394-2541
Observed ORCID: 0000-0002-0394-2541
OpenAlex ID: A5043634159
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation
2013 · Mitsuhiro Kato, Takanori Yamagata, et al. · Epilepsia · 229
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Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder
2018 · Atsushi Takata, Noriko Miyake, et al. · Cell Reports · 174
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Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency
2018 · Karin Kojima, Takeshi Nakajima, et al. · Brain · 143
Circadian-relevant genes are highly polymorphic in autism spectrum disorder patients
2015 · Zhiliang Yang, Ayumi Matsumoto, et al. · Brain and Development · 131
Role of a circadian-relevant gene NR1D1 in brain development: possible involvement in the pathophysiology of autism spectrum disorders
2017 · Masahide Goto, Makoto Mizuno, et al. · Scientific Reports · 36
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Molecular diagnosis of 405 individuals with autism spectrum disorder
2023 · Noriko Miyake, Yoshinori Tsurusaki, et al. · European Journal of Human Genetics · 31
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A case of severe movement disorder with GNAO1 mutation responsive to topiramate
2017 · Saori Sakamoto, Yukifumi Monden, et al. · Brain and Development · 30
Contiguous ABCD1 DXS1357E deletion syndrome: Report of an autopsy case
2012 · Mitsuaki Iwasa, Takanori Yamagata, et al. · Neuropathology · 29
LIN7A Depletion Disrupts Cerebral Cortex Development, Contributing to Intellectual Disability in 12q21-Deletion Syndrome
2014 · Ayumi Matsumoto, Makoto Mizuno, et al. · PLoS ONE · 28
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MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus
2013 · Mari Saito, Takanori Yamagata, et al. · Brain and Development · 27
Genome‐Wide Association Study of Lean Nonalcoholic Fatty Liver Disease Suggests Human Leukocyte Antigen as a Novel Candidate Locus
2020 · Ken Yoshida, Kazuha Yokota, et al. · Hepatology Communications · 26
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Role of an adaptor protein Lin‐7B in brain development: possible involvement in autism spectrum disorders
2014 · Makoto Mizuno, Ayumi Matsumoto, et al. · Journal of Neurochemistry · 21
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An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities
2013 · Ayumi Matsumoto, Mari Kuwajima, et al. · Journal of Human Genetics · 19
Efficacy of Tonsillectomy Plus Methylprednisolone Pulse Therapy for a Child with Henoch-Schoenlein Purpura Nephritis
2007 · Yukihiko Kawasaki, Kazuhide Suyama, et al. · The Tohoku Journal of Experimental Medicine · 17
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The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation
2017 · Ayumi Matsumoto, Eri Imagawa, et al. · Brain and Development · 15
Role of Class III phosphoinositide 3‐kinase in the brain development: possible involvement in specific learning disorders
2016 · Yutaka Inaguma, Ayumi Matsumoto, et al. · Journal of Neurochemistry · 15
Two cases of DYNC1H1 mutations with intractable epilepsy
2021 · Ayumi Matsumoto, Karin Kojima, et al. · Brain and Development · 12
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Rituximab was effective for acute disseminated encephalomyelitis followed by recurrent optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies
2018 · Masako Nagashima, Hitoshi Osaka, et al. · Brain and Development · 12
A novel upstream transcription factor 1 target gene N4bp2l1 that regulates adipogenesis
2019 · Kazuhisa Watanabe, Kazuha Yokota, et al. · Biochemistry and Biophysics Reports · 10
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Morphological characterization of Class III phosphoinositide 3-kinase during mouse brain development
2015 · Yutaka Inaguma, Hidenori Ito, et al. · Medical Molecular Morphology · 10
Lack of GPR180 ameliorates hepatic lipid depot via downregulation of mTORC1 signaling
2023 · Ken Yoshida, Kazuha Yokota, et al. · Scientific Reports · 9
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Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation
2019 · Ayumi Matsumoto, Masako Nagashima, et al. · Brain and Development · 9
Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
2024 · Ayumi Matsumoto, Shintaro Kano, et al. · Scientific Reports · 8
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A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation
2022 · Ayumi Matsumoto, Hidetoshi Tsuda, et al. · Molecular Genetics & Genomic Medicine · 8
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N4BP2L1 interacts with dynactin and contributes to GLUT4 trafficking and glucose uptake in adipocytes
2021 · Kazuhisa Watanabe, Ayumi Matsumoto, et al. · Journal of Diabetes Investigation · 8
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Works count: 52
Citation count: 1,107
H-index: 15
I10-index: 20
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