Mashimo H - Search Results

1

Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.

Arisaka A, Nakashima M, Kumada S, Inoue K, Nishida H, Mashimo H, Kashii H, Kato M, Maruyama K, Okumura A, Saitsu H, Matsumoto N, Fukuda M. Arisaka A, et al. Among authors: mashimo h. Epilepsy Behav Rep. 2020 Dec 17;15:100417. doi: 10.1016/j.ebr.2020.100417. eCollection 2021. Epilepsy Behav Rep. 2020. PMID: 33490948 Free PMC article.

2

Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.

Kawarai T, Miyamoto R, Nakagawa E, Koichihara R, Sakamoto T, Mure H, Morigaki R, Koizumi H, Oki R, Montecchiani C, Caltagirone C, Orlacchio A, Hattori A, Mashimo H, Izumi Y, Mezaki T, Kumada S, Taniguchi M, Yokochi F, Saitoh S, Goto S, Kaji R. Kawarai T, et al. Among authors: mashimo h. Parkinsonism Relat Disord. 2018 Jul;52:55-61. doi: 10.1016/j.parkreldis.2018.03.022. Epub 2018 Apr 5. Parkinsonism Relat Disord. 2018. PMID: 29653907

3

Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene.

Miyata Y, Saida K, Kumada S, Miyake N, Mashimo H, Nishida Y, Shirai I, Kurihara E, Nakata Y, Matsumoto N. Miyata Y, et al. Among authors: mashimo h. Brain Dev. 2018 Aug;40(7):566-569. doi: 10.1016/j.braindev.2018.03.012. Epub 2018 Apr 17. Brain Dev. 2018. PMID: 29678278

4

Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia.

Hasegawa S, Kumada S, Tanuma N, Tsuji-Hosokawa A, Kashimada A, Mizuno T, Moriyama K, Sugawara Y, Shirai I, Miyata Y, Nishida H, Mashimo H, Hasegawa T, Hosokawa T, Hisakawa H, Uematsu M, Fujine A, Miyata R, Sakuma H, Kashimada K, Imai K, Morio T, Hayashi M, Mizutani S, Takagi M. Hasegawa S, et al. Among authors: mashimo h. Pediatr Neurol. 2019 Nov;100:60-66. doi: 10.1016/j.pediatrneurol.2019.05.006. Epub 2019 May 13. Pediatr Neurol. 2019. PMID: 31272782 Clinical Trial.

5

IVIG in childhood primary angiitis of the central nervous system: A case report.

Nishida H, Kumada S, Komori T, Takai K, Mori H, Morino M, Suzuki H, Mashimo H, Inoue K, Arisaka A, Fukuda M, Nakata Y. Nishida H, et al. Among authors: mashimo h. Brain Dev. 2020 Oct;42(9):675-679. doi: 10.1016/j.braindev.2020.06.007. Epub 2020 Jul 1. Brain Dev. 2020. PMID: 32622763

6

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.

Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, Okamoto N, Behnam M, Ghadami M, Koshimizu E, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Saitsu H, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: mashimo h. J Hum Genet. 2021 Apr;66(4):401-407. doi: 10.1038/s10038-020-00853-2. Epub 2020 Oct 10. J Hum Genet. 2021. PMID: 33040083

7

Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.

Watanabe K, Nakashima M, Kumada S, Mashimo H, Enokizono M, Yamada K, Kato M, Saitsu H. Watanabe K, et al. Among authors: mashimo h. J Hum Genet. 2021 Dec;66(12):1193-1197. doi: 10.1038/s10038-021-00956-4. Epub 2021 Jul 1. J Hum Genet. 2021. PMID: 34211110 Review.

8

Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.

Azuma K, Horisawa S, Mashimo H, Fukuda M, Kumada S, Kawamata T, Taira T, Akagawa H. Azuma K, et al. Among authors: mashimo h. Clin Genet. 2023 Feb;103(2):209-213. doi: 10.1111/cge.14233. Epub 2022 Oct 7. Clin Genet. 2023. PMID: 36161439

9

Focal tonic seizures with asymmetrical posturing could allow voluntary movements: A lesson to not be misled for a non-epileptic event.

Fukuda M, Tojima M, Inoue K, Mashimo H, Kashii H, Kumada S, Usami K, Ikeda A. Fukuda M, et al. Among authors: mashimo h. Epileptic Disord. 2023 Jun;25(3):416-421. doi: 10.1002/epd2.20047. Epub 2023 May 24. Epileptic Disord. 2023. PMID: 36946254

10

Abnormal theta-band rhythm: EEG abnormality as potential biomarkers for disease severity in pediatric anti-NMDAR encephalitis.

Tamura Y, Fukuda M, Ishiyama A, Nishida H, Kashii H, Mashimo H, Inoue K, Sakuma H, Kumada S. Tamura Y, et al. Among authors: mashimo h. Epilepsy Behav Rep. 2024 Aug 6;27:100704. doi: 10.1016/j.ebr.2024.100704. eCollection 2024. Epilepsy Behav Rep. 2024. PMID: 39206447 Free PMC article.

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