Nishino I - Search Results

1

Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.

Mimaki M, Hatakeyama H, Ichiyama T, Isumi H, Furukawa S, Akasaka M, Kamei A, Komaki H, Nishino I, Nonaka I, Goto Y. Mimaki M, et al. Among authors: nishino i. Mitochondrion. 2009 Apr;9(2):115-22. doi: 10.1016/j.mito.2009.01.005. Epub 2009 Jan 21. Mitochondrion. 2009. PMID: 19460299

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

Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease).

Takahashi M, Yamamoto A, Takano K, Sudo A, Wada T, Goto Y, Nishino I, Saitoh S. Takahashi M, et al. Among authors: nishino i. Ann Neurol. 2002 Jul;52(1):122-5. doi: 10.1002/ana.10235. Ann Neurol. 2002. PMID: 12112061

4

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.

Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, Goto K, Nonaka I, Nishino I, Hayashi YK. Tagawa K, et al. Among authors: nishino i. J Neurol Sci. 2003 Jul 15;211(1-2):23-8. doi: 10.1016/s0022-510x(03)00041-8. J Neurol Sci. 2003. PMID: 12767493

5

Negative result in search for human alpha-dystrobrevin deficiency.

Ishikawa H, Nonaka I, Nishino I. Ishikawa H, et al. Among authors: nishino i. Muscle Nerve. 2003 Sep;28(3):387-8. doi: 10.1002/mus.10441. Muscle Nerve. 2003. PMID: 12929204 No abstract available.

6

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

7

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.

8

[Dropped head plus syndrome; a case report].

Morino K, Kita Y, Yoneda Y, Tabuchi M, Nishino I, Nonaka I. Morino K, et al. Among authors: nishino i. Rinsho Shinkeigaku. 2003 Sep;43(9):556-9. Rinsho Shinkeigaku. 2003. PMID: 14727563 Japanese.

9

[Inclusion body myositis associated with chronic thyroiditis, Sjögren's syndrome and autoimmune cholangitis].

Hama K, Miwa H, Nishino I, Nonaka I, Kondo T. Hama K, et al. Among authors: nishino i. No To Shinkei. 2004 Jun;56(6):503-7. No To Shinkei. 2004. PMID: 15328839 Review. Japanese.

10

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

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