Nishino I - Search Results

1

Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.

Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, Connolly AM, Verloes A, Guimarães J, Maillard I, Hamano H, Donati MA, Semrad CE, Russell JA, Andreu AL, Hadjigeorgiou GM, Vu TH, Tadesse S, Nygaard TG, Nonaka I, Hirano I, Bonilla E, Rowland LP, DiMauro S, Hirano M. Nishino I, et al. Ann Neurol. 2000 Jun;47(6):792-800. Ann Neurol. 2000. PMID: 10852545

2

MNGIE: from nuclear DNA to mitochondrial DNA.

Nishino I, Spinazzola A, Hirano M. Nishino I, et al. Neuromuscul Disord. 2001 Jan;11(1):7-10. doi: 10.1016/s0960-8966(00)00159-0. Neuromuscul Disord. 2001. PMID: 11166160 Review.

3

Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.

Hirano M, Marti R, Ferreiro-Barros C, Vilà MR, Tadesse S, Nishigaki Y, Nishino I, Vu TH. Hirano M, et al. Among authors: nishino i. Semin Cell Dev Biol. 2001 Dec;12(6):417-27. doi: 10.1006/scdb.2001.0279. Semin Cell Dev Biol. 2001. PMID: 11735376 Review.

4

Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.

Hirano M, Martí R, Spinazzola A, Nishino I, Nishigaki Y. Hirano M, et al. Among authors: nishino i. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1217-25. doi: 10.1081/NCN-200027485. Nucleosides Nucleotides Nucleic Acids. 2004. PMID: 15571233

5

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.

Hirano M, Martí R, Casali C, Tadesse S, Uldrick T, Fine B, Escolar DM, Valentino ML, Nishino I, Hesdorffer C, Schwartz J, Hawks RG, Martone DL, Cairo MS, DiMauro S, Stanzani M, Garvin JH Jr, Savage DG. Hirano M, et al. Among authors: nishino i. Neurology. 2006 Oct 24;67(8):1458-60. doi: 10.1212/01.wnl.0000240853.97716.24. Epub 2006 Sep 13. Neurology. 2006. PMID: 16971696 Free PMC article.

6

Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

Hirano M, Garcia-de-Yebenes J, Jones AC, Nishino I, DiMauro S, Carlo JR, Bender AN, Hahn AF, Salberg LM, Weeks DE, Nygaard TG. Hirano M, et al. Among authors: nishino i. Am J Hum Genet. 1998 Aug;63(2):526-33. doi: 10.1086/301979. Am J Hum Genet. 1998. PMID: 9683610 Free PMC article.

7

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

Nishino I, Spinazzola A, Hirano M. Nishino I, et al. Science. 1999 Jan 29;283(5402):689-92. doi: 10.1126/science.283.5402.689. Science. 1999. PMID: 9924029

8

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.

Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMauro S, Friedman R. Sue CM, et al. Among authors: nishino i. Neurology. 1999 Jun 10;52(9):1905-8. doi: 10.1212/wnl.52.9.1905. Neurology. 1999. PMID: 10371545

9

Infantile autophagic vacuolar myopathy is distinct from Danon disease.

Yamamoto A, Morisawa Y, Verloes A, Murakami N, Hirano M, Nonaka I, Nishino I. Yamamoto A, et al. Among authors: nishino i. Neurology. 2001 Sep 11;57(5):903-5. doi: 10.1212/wnl.57.5.903. Neurology. 2001. PMID: 11552028

10

[Electron transfer complex III deficiency].

Nishino I, Nonaka I. Nishino I, et al. Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):494-6. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9645118 Review. Japanese. No abstract available.

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