Nishino I - 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: nishino i. 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

Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene.

Yamasoba T, Goto Yi, Oka Y, Nishino I, Tsukuda K, Nonaka I. Yamasoba T, et al. Among authors: nishino i. Neuromuscul Disord. 2002 Jun;12(5):506-12. doi: 10.1016/s0960-8966(01)00329-7. Neuromuscul Disord. 2002. PMID: 12031626

3

[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: nishino i. Rinsho Shinkeigaku. 2003 May;43(5):243-8. Rinsho Shinkeigaku. 2003. PMID: 12931628 Japanese.

4

Characterization of Danon disease in a male patient and his affected mother.

Sugie K, Koori T, Yamamoto A, Ogawa M, Hirano M, Inoue K, Nonaka I, Nishino I. Sugie K, et al. Among authors: nishino i. Neuromuscul Disord. 2003 Nov;13(9):708-11. doi: 10.1016/s0960-8966(03)00105-6. Neuromuscul Disord. 2003. PMID: 14561493

5

Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.

Noguchi S, Keira Y, Murayama K, Ogawa M, Fujita M, Kawahara G, Oya Y, Imazawa M, Goto Y, Hayashi YK, Nonaka I, Nishino I. Noguchi S, et al. Among authors: nishino i. J Biol Chem. 2004 Mar 19;279(12):11402-7. doi: 10.1074/jbc.M313171200. Epub 2004 Jan 5. J Biol Chem. 2004. PMID: 14707127 Free article.

6

FSHD-like patients without 4q35 deletion.

Yamanaka G, Goto K, Ishihara T, Oya Y, Miyajima T, Hoshika A, Nishino I, Hayashi YK. Yamanaka G, et al. Among authors: nishino i. J Neurol Sci. 2004 Apr 15;219(1-2):89-93. doi: 10.1016/j.jns.2003.12.010. J Neurol Sci. 2004. PMID: 15050443

7

Two novel CAV3 gene mutations in Japanese families.

Sugie K, Murayama K, Noguchi S, Murakami N, Mochizuki M, Hayashi YK, Nonaka I, Nishino I. Sugie K, et al. Among authors: nishino i. Neuromuscul Disord. 2004 Dec;14(12):810-4. doi: 10.1016/j.nmd.2004.08.008. Neuromuscul Disord. 2004. PMID: 15564037

8

Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.

Nonaka I, Noguchi S, Nishino I. Nonaka I, et al. Among authors: nishino i. Curr Neurol Neurosci Rep. 2005 Feb;5(1):61-5. doi: 10.1007/s11910-005-0025-0. Curr Neurol Neurosci Rep. 2005. PMID: 15676110 Review.

9

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.

Tsai TC, Horinouchi H, Noguchi S, Minami N, Murayama K, Hayashi YK, Nonaka I, Nishino I. Tsai TC, et al. Among authors: nishino i. Neuromuscul Disord. 2005 Mar;15(3):245-52. doi: 10.1016/j.nmd.2004.12.005. Epub 2005 Jan 28. Neuromuscul Disord. 2005. PMID: 15725586

10

Proteolysis of beta-dystroglycan in muscular diseases.

Matsumura K, Zhong D, Saito F, Arai K, Adachi K, Kawai H, Higuchi I, Nishino I, Shimizu T. Matsumura K, et al. Among authors: nishino i. Neuromuscul Disord. 2005 May;15(5):336-41. doi: 10.1016/j.nmd.2005.01.007. Neuromuscul Disord. 2005. PMID: 15833425

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