Sugie H - Search Results

1

A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review.

Mori-Yoshimura M, Aizawa K, Oya Y, Saito Y, Fukuda T, Sugie H, Nishino I, Takahashi Y. Mori-Yoshimura M, et al. Among authors: sugie h. Neuromuscul Disord. 2022 Sep;32(9):769-773. doi: 10.1016/j.nmd.2022.05.010. Epub 2022 May 24. Neuromuscul Disord. 2022. PMID: 35710611 Review.

2

Distal lipid storage myopathy due to PNPLA2 mutation.

Ohkuma A, Nonaka I, Malicdan MC, Noguchi S, Ohji S, Nomura K, Sugie H, Hayashi YK, Nishino I. Ohkuma A, et al. Among authors: sugie h. Neuromuscul Disord. 2008 Aug;18(8):671-4. doi: 10.1016/j.nmd.2008.06.382. Epub 2008 Jul 26. Neuromuscul Disord. 2008. PMID: 18657972

3

Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia.

Sukigara S, Liang WC, Komaki H, Fukuda T, Miyamoto T, Saito T, Saito Y, Nakagawa E, Sugai K, Hayashi YK, Sugie H, Sasaki M, Nishino I. Sukigara S, et al. Among authors: sugie h. Neuromuscul Disord. 2012 Feb;22(2):162-5. doi: 10.1016/j.nmd.2011.08.008. Epub 2011 Sep 29. Neuromuscul Disord. 2012. PMID: 21958591

4

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.

Tsuburaya RS, Monma K, Oya Y, Nakayama T, Fukuda T, Sugie H, Hayashi YK, Nonaka I, Nishino I. Tsuburaya RS, et al. Among authors: sugie h. Neuromuscul Disord. 2012 May;22(5):389-93. doi: 10.1016/j.nmd.2011.11.003. Epub 2011 Dec 21. Neuromuscul Disord. 2012. PMID: 22196155

5

Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency.

Munekane A, Ohsawa Y, Fukuda T, Nishimura H, Nishimatsu SI, Sugie H, Saito Y, Nishino I, Sunada Y. Munekane A, et al. Among authors: sugie h. Intern Med. 2022 Apr 15;61(8):1241-1245. doi: 10.2169/internalmedicine.8137-21. Epub 2021 Oct 5. Intern Med. 2022. PMID: 34615823 Free PMC article.

6

[Nation-wide survey on muscle glycogen storage disease (MGSDs) and comparison with our experiences in diagnosis of MGSDs].

Fukuda T, Sugie H, Ito M, Sugie Y, Saito K, Nishino I, Shimizu T. Fukuda T, et al. Among authors: sugie h, sugie y. Rinsho Shinkeigaku. 2003 May;43(5):243-8. Rinsho Shinkeigaku. 2003. PMID: 12931628 Japanese.

7

A novel PYGM mutation in a Korean patient with McArdle disease: the role of nonsense-mediated mRNA decay.

Sohn EH, Kim HS, Lee AY, Fukuda T, Sugie H, Kim DS. Sohn EH, et al. Among authors: sugie h. Neuromuscul Disord. 2008 Nov;18(11):886-9. doi: 10.1016/j.nmd.2008.06.384. Epub 2008 Jul 29. Neuromuscul Disord. 2008. PMID: 18667317

8

Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.

Furusawa Y, Mori-Yoshimura M, Yamamoto T, Sakamoto C, Wakita M, Kobayashi Y, Fukumoto Y, Oya Y, Fukuda T, Sugie H, Hayashi YK, Nishino I, Nonaka I, Murata M. Furusawa Y, et al. Among authors: sugie h. J Inherit Metab Dis. 2012 Mar;35(2):301-10. doi: 10.1007/s10545-011-9393-6. Epub 2011 Oct 7. J Inherit Metab Dis. 2012. PMID: 21984055

9

[Enzyme Replacement Therapy for Pompe Disease: The Long-Term Efficacy and Limitation].

Fukuda T, Sugie H. Fukuda T, et al. Among authors: sugie h. Brain Nerve. 2015 Sep;67(9):1091-8. doi: 10.11477/mf.1416200265. Brain Nerve. 2015. PMID: 26329149 Review. Japanese.

10

Clinical and genetic analysis of lipid storage myopathies.

Ohkuma A, Noguchi S, Sugie H, Malicdan MC, Fukuda T, Shimazu K, López LC, Hirano M, Hayashi YK, Nonaka I, Nishino I. Ohkuma A, et al. Among authors: sugie h. Muscle Nerve. 2009 Mar;39(3):333-42. doi: 10.1002/mus.21167. Muscle Nerve. 2009. PMID: 19208393 Free PMC article.

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