Yuan JH - Search Results

1

[A case of hyperkalemic periodic paralysis presenting progressive myopathy with tubular aggregates].

Yoshimura K, Morihata H, Takeda K, Sakoda S, Yuan JH, Nakano S. Yoshimura K, et al. Among authors: yuan jh. Rinsho Shinkeigaku. 2018 Nov 28;58(11):663-667. doi: 10.5692/clinicalneurol.cn-001137. Epub 2018 Oct 27. Rinsho Shinkeigaku. 2018. PMID: 30369522 Japanese.

2

Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation.

Yuan J, Matsuura E, Higuchi Y, Hashiguchi A, Nakamura T, Nozuma S, Sakiyama Y, Yoshimura A, Izumo S, Takashima H. Yuan J, et al. Neurology. 2013 Apr 30;80(18):1641-9. doi: 10.1212/WNL.0b013e3182904fdd. Epub 2013 Apr 17. Neurology. 2013. PMID: 23596073

3

A case of Andersen-Tawil syndrome presenting periodic paralysis exacerbated by acetazolamide.

Nagamine S, Sakoda S, Koide R, Kawata A, Yuan J, Takashima H, Nakano I. Nagamine S, et al. J Neurol Sci. 2014 Dec 15;347(1-2):385-6. doi: 10.1016/j.jns.2014.09.040. Epub 2014 Sep 30. J Neurol Sci. 2014. PMID: 25284084 No abstract available.

4

Phenotypic variability in childhood of skeletal muscle sodium channelopathies.

Yoshinaga H, Sakoda S, Shibata T, Akiyama T, Oka M, Yuan JH, Takashima H, Takahashi MP, Kitamura T, Murakami N, Kobayashi K. Yoshinaga H, et al. Among authors: yuan jh. Pediatr Neurol. 2015 May;52(5):504-8. doi: 10.1016/j.pediatrneurol.2015.01.014. Epub 2015 Jan 29. Pediatr Neurol. 2015. PMID: 25724373

5

[An unusual case of sodium channel myotonia with transient weakness upon initiating movements which is characteristic in Becker disease].

Yamamoto J, Hokkoku K, Hatanaka Y, Sakoda S, Yuan JH, Sonoo M. Yamamoto J, et al. Among authors: yuan jh. Rinsho Shinkeigaku. 2017 Jun 28;57(6):287-292. doi: 10.5692/clinicalneurol.cn-000980. Epub 2017 May 26. Rinsho Shinkeigaku. 2017. PMID: 28552867 Japanese.

6

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.

Yuan JH, Higuchi Y, Hashiguchi A, Ando M, Yoshimura A, Nakamura T, Hiramatsu Y, Sakiyama Y, Takashima H. Yuan JH, et al. Front Neurol. 2023 Jan 26;14:1078195. doi: 10.3389/fneur.2023.1078195. eCollection 2023. Front Neurol. 2023. PMID: 36779057 Free PMC article.

7

Mitochondrial myopathy with autophagic vacuoles in patients with the m.8344A>G mutation.

Yuan JH, Sakiyama Y, Higuchi I, Inamori Y, Higuchi Y, Hashiguchi A, Higashi K, Yoshimura A, Takashima H. Yuan JH, et al. J Clin Pathol. 2013 Aug;66(8):659-64. doi: 10.1136/jclinpath-2012-201431. Epub 2013 Apr 4. J Clin Pathol. 2013. PMID: 23559353

8

Partial deficiency of emerin caused by a splice site mutation in EMD.

Yuan J, Ando M, Higuchi I, Sakiyama Y, Matsuura E, Michizono K, Watanabe O, Nagano S, Inamori Y, Hashiguchi A, Higuchi Y, Yoshimura A, Takashima H. Yuan J, et al. Intern Med. 2014;53(14):1563-8. doi: 10.2169/internalmedicine.53.8922. Epub 2014 Jul 15. Intern Med. 2014. PMID: 25030574 Free article.

9

Clinical and Electron Microscopic Findings in Two Patients with Mitochondrial Myopathy Associated with Episodic Hyper-creatine Kinase-emia.

Nozuma S, Okamoto Y, Higuchi I, Yuan J, Hashiguchi A, Sakiyama Y, Yoshimura A, Higuchi Y, Takashima H. Nozuma S, et al. Intern Med. 2015;54(24):3209-14. doi: 10.2169/internalmedicine.54.5444. Epub 2015 Dec 15. Intern Med. 2015. PMID: 26666615 Free article.

10

Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.

Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Inamizu S, Shiraishi W, Yamasaki R, Ohyagi Y, Kira J, Oya Y, Yabe H, Nishikawa N, Tobisawa S, Matsuda N, Masuda M, Kugimoto C, Fukushima K, Yano S, Yoshimura J, Doi K, Nakagawa M, Morishita S, Tsuji S, Takashima H. Higuchi Y, et al. Ann Neurol. 2016 Apr;79(4):659-72. doi: 10.1002/ana.24612. Epub 2016 Mar 17. Ann Neurol. 2016. PMID: 26991897 Free PMC article.

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