Ishiyama A - Search Results

1

Renal dysfunction can occur in advanced-stage Duchenne muscular dystrophy.

Motoki T, Shimizu-Motohashi Y, Saito I, Komaki H, Ishiyama A, Aibara K, Jogamoto T, Tezuka Y, Kawabe M, Makino A, Nagatani K, Tatara K, Kuwabara K, Kikuchi C, Fukuda M, Ishii E, Eguchi M. Motoki T, et al. Among authors: ishiyama a. Muscle Nerve. 2020 Feb;61(2):192-197. doi: 10.1002/mus.26757. Epub 2019 Nov 28. Muscle Nerve. 2020. PMID: 31725904

2

Unusual exocrine complication of pancreatitis in mitochondrial disease.

Ishiyama A, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Itagaki Y, Matsuzaki K, Nakura M, Nishino I, Goto Y, Sasaki M. Ishiyama A, et al. Brain Dev. 2013 Aug;35(7):654-9. doi: 10.1016/j.braindev.2012.10.015. Epub 2012 Nov 22. Brain Dev. 2013. PMID: 23182449

3

Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs.

Nagai S, Saito Y, Endo Y, Saito T, Sugai K, Ishiyama A, Komaki H, Nakagawa E, Sasaki M, Ito K, Saito Y, Sukigara S, Ito M, Goto Y, Ito S, Matsuoka K. Nagai S, et al. Among authors: ishiyama a. J Neurol. 2013 May;260(5):1263-71. doi: 10.1007/s00415-012-6787-9. Epub 2012 Dec 23. J Neurol. 2013. PMID: 23263592

4

Hypophosphatemia is a common complication in severely disabled individuals with neurological disorders and is caused by infection, refeeding and Fanconi syndrome.

Saito Y, Aoki Y, Takeshita E, Saito T, Sugai K, Komaki H, Nakagawa E, Ishiyama A, Takanoha S, Wada S, Sasaki M. Saito Y, et al. Among authors: ishiyama a. Brain Dev. 2014 Nov;36(10):878-83. doi: 10.1016/j.braindev.2013.12.001. Epub 2013 Dec 18. Brain Dev. 2014. PMID: 24360095

5

Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation.

Kubota K, Saito Y, Ohba C, Saitsu H, Fukuyama T, Ishiyama A, Saito T, Komaki H, Nakagawa E, Sugai K, Sasaki M, Matsumoto N. Kubota K, et al. Among authors: ishiyama a. Brain Dev. 2015 Jan;37(1):158-62. doi: 10.1016/j.braindev.2014.03.001. Epub 2014 Mar 28. Brain Dev. 2015. PMID: 24685771

6

Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations.

Goto M, Saito Y, Honda R, Saito T, Sugai K, Matsuda Y, Miyatake C, Takeshita E, Ishiyama A, Komaki H, Nakagawa E, Sasaki M, Uto C, Kikuchi K, Motoki T, Saitoh S. Goto M, et al. Among authors: ishiyama a. Brain Dev. 2015 Feb;37(2):216-22. doi: 10.1016/j.braindev.2014.04.005. Epub 2014 May 3. Brain Dev. 2015. PMID: 24796722

7

A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.

Okubo M, Fujita A, Saito Y, Komaki H, Ishiyama A, Takeshita E, Kojima E, Koichihara R, Saito T, Nakagawa E, Sugai K, Yamazaki H, Kusaka K, Tanaka H, Miyake N, Matsumoto N, Sasaki M. Okubo M, et al. Among authors: ishiyama a. Am J Med Genet A. 2015 May;167A(5):1100-6. doi: 10.1002/ajmg.a.36881. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25712306

8

Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients.

Motoki T, Shimizu-Motohashi Y, Komaki H, Mori-Yoshimura M, Oya Y, Takeshita E, Ishiyama A, Saito T, Nakagawa E, Sugai K, Murata M, Sasaki M. Motoki T, et al. Among authors: ishiyama a. Neuromuscul Disord. 2015 Oct;25(10):754-7. doi: 10.1016/j.nmd.2015.07.006. Epub 2015 Jul 29. Neuromuscul Disord. 2015. PMID: 26298609

9

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

Ohba C, Haginoya K, Osaka H, Kubota K, Ishiyama A, Hiraide T, Komaki H, Sasaki M, Miyatake S, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N. Ohba C, et al. Among authors: ishiyama a. J Hum Genet. 2015 Dec;60(12):739-42. doi: 10.1038/jhg.2015.108. Epub 2015 Sep 10. J Hum Genet. 2015. PMID: 26354034

10

The long-term health impact and potential predictors of cardiopulmonary arrest in patients with childhood-onset psychomotor impairments.

Kubota K, Shimizu-Motohashi Y, Saito T, Akatsuka S, Takeshita E, Ishiyama A, Komaki H, Nakagawa E, Sugai K, Sasaki M. Kubota K, et al. Among authors: ishiyama a. Brain Dev. 2016 Apr;38(4):392-8. doi: 10.1016/j.braindev.2015.10.005. Epub 2015 Oct 21. Brain Dev. 2016. PMID: 26482602

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