Tanji K - Search Results

1

Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

Kushnir A, Todd JJ, Witherspoon JW, Yuan Q, Reiken S, Lin H, Munce RH, Wajsberg B, Melville Z, Clarke OB, Wedderburn-Pugh K, Wronska A, Razaqyar MS, Chrismer IC, Shelton MO, Mankodi A, Grunseich C, Tarnopolsky MA, Tanji K, Hirano M, Riazi S, Kraeva N, Voermans NC, Gruber A, Allen C, Meilleur KG, Marks AR. Kushnir A, et al. Among authors: tanji k. Acta Neuropathol. 2020 Jun;139(6):1089-1104. doi: 10.1007/s00401-020-02150-w. Epub 2020 Mar 31. Acta Neuropathol. 2020. PMID: 32236737 Free PMC article.

2

Mitochondrial involvement in Alzheimer's disease.

Bonilla E, Tanji K, Hirano M, Vu TH, DiMauro S, Schon EA. Bonilla E, et al. Among authors: tanji k. Biochim Biophys Acta. 1999 Feb 9;1410(2):171-82. doi: 10.1016/s0005-2728(98)00165-0. Biochim Biophys Acta. 1999. PMID: 10076025 Free article. Review.

3

Mitochondrial genes for generalized epilepsies.

DiMauro S, Kulikova R, Tanji K, Bonilla E, Hirano M. DiMauro S, et al. Among authors: tanji k. Adv Neurol. 1999;79:411-9. Adv Neurol. 1999. PMID: 10514830 Review. No abstract available.

4

Clinical features and genetics of myoclonic epilepsy with ragged red fibers.

DiMauro S, Hirano M, Kaufmann P, Tanji K, Sano M, Shungu DC, Bonilla E, DeVivo DC. DiMauro S, et al. Among authors: tanji k. Adv Neurol. 2002;89:217-29. Adv Neurol. 2002. PMID: 11968448 Review. No abstract available.

5

A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.

Chae JH, Lee JS, Kim KJ, Hwang YS, Bonilla E, Tanji K, Hirano M. Chae JH, et al. Among authors: tanji k. Pediatr Res. 2007 May;61(5 Pt 1):622-4. doi: 10.1203/pdr.0b013e3180459f2d. Pediatr Res. 2007. PMID: 17413873

6

LAMP-2 deficiency (Danon disease).

Di Mauro S, Tanji K, Hirano M. Di Mauro S, et al. Among authors: tanji k. Acta Myol. 2007 Jul;26(1):79-82. Acta Myol. 2007. PMID: 17915578 Free PMC article. No abstract available.

7

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.

Akman HO, Dorado B, López LC, García-Cazorla A, Vilà MR, Tanabe LM, Dauer WT, Bonilla E, Tanji K, Hirano M. Akman HO, et al. Among authors: tanji k. Hum Mol Genet. 2008 Aug 15;17(16):2433-40. doi: 10.1093/hmg/ddn143. Epub 2008 May 8. Hum Mol Genet. 2008. PMID: 18467430 Free PMC article.

8

The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia.

Sotiriou E, Coku J, Tanji K, Huang HB, Hirano M, DiMauro S. Sotiriou E, et al. Among authors: tanji k. Neuromuscul Disord. 2009 Apr;19(4):297-9. doi: 10.1016/j.nmd.2009.01.014. Epub 2009 Mar 13. Neuromuscul Disord. 2009. PMID: 19285865 Free PMC article.

9

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

Coku J, Shanske S, Mehrazin M, Tanji K, Naini A, Emmanuele V, Patterson M, Hirano M, DiMauro S. Coku J, et al. Among authors: tanji k. J Neurol Sci. 2010 Mar 15;290(1-2):166-8. doi: 10.1016/j.jns.2009.12.001. Epub 2009 Dec 22. J Neurol Sci. 2010. PMID: 20022607 Free PMC article.

10

Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation.

Emmanuele V, Sotiriou E, Shirazi M, Tanji K, Haller RG, Heinicke K, Bosch PE, Hirano M, DiMauro S. Emmanuele V, et al. Among authors: tanji k. J Neurol Sci. 2011 Apr 15;303(1-2):39-42. doi: 10.1016/j.jns.2011.01.018. Epub 2011 Feb 15. J Neurol Sci. 2011. PMID: 21324494 Free PMC article.

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