Publications by authors named "Hideaki Mashimo"

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Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials.
Madoka Mori-Yoshimura, Hirotaka Ohki, Hideaki Mashimo, Kenji Inoue, Satoko Kumada

Mol Genet Metab Rep· March 2025

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Abnormal theta-band rhythm: EEG abnormality as potential biomarkers for disease severity in pediatric anti-NMDAR encephalitis.
Yumie Tamura, Mitsumasa Fukuda, Akihiko Ishiyama, Hiroya Nishida, Hirofumi Kashii, Hideaki Mashimo

Epilepsy Behav Rep· August 2024

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Focal tonic seizures with asymmetrical posturing could allow voluntary movements: A lesson to not be misled for a non-epileptic event.
Mitsumasa Fukuda, Maya Tojima, Kenji Inoue, Hideaki Mashimo, Hirofumi Kashii

Epileptic Disord· June 2023

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Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
Kenko Azuma, Shiro Horisawa, Hideaki Mashimo, Mitsumasa Fukuda, Satoko Kumada

Clin Genet· February 2023

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Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Hideaki Mashimo

Genet Med· December 2022

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Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.
Kazuki Watanabe, Mitsuko Nakashima, Satoko Kumada, Hideaki Mashimo, Mikako Enokizono

J Hum Genet· December 2021

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Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
Masamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, Hideaki Mashimo, Satoko Kumada

J Hum Genet· April 2021

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Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
Atsuko Arisaka, Mitsuko Nakashima, Satoko Kumada, Kenji Inoue, Hiroya Nishida, Hideaki Mashimo

Epilepsy Behav Rep· December 2020

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IVIG in childhood primary angiitis of the central nervous system: A case report.
Hiroya Nishida, Satoko Kumada, Takashi Komori, Keisuke Takai, Harushi Mori, Hideaki Mashimo

Brain Dev· October 2020

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Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia.
Setsuko Hasegawa, Satoko Kumada, Naoyuki Tanuma, Atsumi Tsuji-Hosokawa, Ayako Kashimada, Hideaki Mashimo

Pediatr Neurol· November 2019

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Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene.
Yohane Miyata, Ken Saida, Satoko Kumada, Noriko Miyake, Hideaki Mashimo

Brain Dev· August 2018

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Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.
Toshitaka Kawarai, Ryosuke Miyamoto, Eiji Nakagawa, Reiko Koichihara, Takashi Sakamoto, Hideaki Mashimo

Parkinsonism Relat Disord· July 2018

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Disordered voluntary cough as freezing phenomenon in parkinsonism.
Mitsuaki Ishii, Hideaki Mashimo

J Phys Ther Sci· March 2017

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Accelerometer based analysis of gait initiation failure in advanced juvenile parkinsonism: a single subject study.
Mitsuaki Ishii, Hideaki Mashimo

J Phys Ther Sci· November 2016

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Parkinsonian Symptomatology May Correlate with CT Findings before and after Shunting in Idiopathic Normal Pressure Hydrocephalus.
Mitsuaki Ishii, Toshio Kawamata, Ichiro Akiguchi, Hideo Yagi, Yuko Watanabe, Hideaki Mashimo

Parkinsons Dis· March 2010

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