Publications by authors named "Mie Inaba"

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Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.
Mamiko Yamada, Seiji Mizuno, Mie Inaba, Tomoko Uehara, Hidehito Inagaki

Am J Med Genet A· August 2024

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Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.
Yasuyo Suzuki, Noriko Nomura, Kenichiro Yamada, Yasukazu Yamada, Ayumi Fukuda, Mie Inaba

Eur J Med Genet· December 2023

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Atypical Sotos syndrome caused by a novel splice site variant.
Mari Minatogawa, Taichi Tsuji, Mie Inaba, Noriaki Kawakami, Seiji Mizuno

Hum Genome Var· November 2022

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R3HDM1 haploinsufficiency is associated with mild intellectual disability.
Daisuke Fukushi, Mie Inaba, Kimiko Katoh, Yasuyo Suzuki, Yasushi Enokido

Am J Med Genet A· June 2021

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Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures.
Hisato Suzuki, Mie Inaba, Mamiko Yamada, Tomoko Uehara, Toshiki Takenouchi

Am J Med Genet A· April 2021

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Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report.
Yasunobu Nosaki, Ken Ohyama, Maki Watanabe, Takamasa Yokoi, Yosuke Kobayashi, Mie Inaba

Epilepsy Behav Rep· November 2020

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Mowat-Wilson syndrome: growth charts.
Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Mie Inaba

Orphanet J Rare Dis· June 2020

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Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood.
Kohji Kato, Seiji Mizuno, Mie Inaba, Shinobu Fukumura, Naoko Kurahashi

Brain Dev· September 2018

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Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.
Daisuke Fukushi, Kenichiro Yamada, Kaoru Suzuki, Mie Inaba, Noriko Nomura

Gene· May 2018

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Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.
Toshiki Takenouchi, Mie Inaba, Tomoko Uehara, Takao Takahashi, Kenjiro Kosaki

Am J Med Genet A· February 2018

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The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS).
Yasuyo Suzuki, Yasushi Enokido, Kenichiro Yamada, Mie Inaba, Kumiko Kuwata

Oncotarget· July 2017

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A novel Caspr mutation causes the shambling mouse phenotype by disrupting axoglial interactions of myelinated nerves.
Xiao-yang Sun, Yoshiko Takagishi, Erina Okabe, Yûko Chishima, Yasuhiko Kanou, Mie Inaba

J Neuropathol Exp Neurol· November 2009

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Facilitation of low-frequency stimulation-induced long-term potentiation by endogenous noradrenaline and serotonin in developing rat visual cortex.
Mie Inaba, Takuro Maruyama, Yumiko Yoshimura, Hajime Hosoi, Yukio Komatsu

Neurosci Res· June 2009

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Involvement of T-type Ca2+ channels in the potentiation of synaptic and visual responses during the critical period in rat visual cortex.
Yumiko Yoshimura, Mie Inaba, Kazumasa Yamada, Tohru Kurotani, Tahamina Begum

Eur J Neurosci· August 2008

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Brain-derived neurotrophic factor-mediated retrograde signaling required for the induction of long-term potentiation at inhibitory synapses of visual cortical pyramidal neurons.
Tsuyoshi Inagaki, Tahamina Begum, Faruque Reza, Shoko Horibe, Mie Inaba

Neurosci Res· June 2008

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