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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M. Shintaku J, et al. Among authors: tanji k. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. J Clin Invest. 2022. PMID: 35617047 Free PMC article.
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.
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.
Analysis of mtDNA deletions in muscle by in situ hybridization.
Vu TH, Tanji K, Pallotti F, Golzi V, Hirano M, DiMauro S, Bonilla E. Vu TH, et al. Among authors: tanji k. Muscle Nerve. 2000 Jan;23(1):80-5. doi: 10.1002/(sici)1097-4598(200001)23:1<80::aid-mus10>3.0.co;2-v. Muscle Nerve. 2000. PMID: 10590409 Clinical Trial.
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.
Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J, Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M. Karadimas CL, et al. Among authors: tanji k. Am J Hum Genet. 2006 Sep;79(3):544-8. doi: 10.1086/506913. Epub 2006 Jun 28. Am J Hum Genet. 2006. PMID: 16909392 Free PMC article.
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.
A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.
Tanji K, Kaufmann P, Naini AB, Lu J, Parsons TC, Wang D, Willey JZ, Shanske S, Hirano M, Bonilla E, Khandji A, Dimauro S, Rowland LP. Tanji K, et al. J Neurol Sci. 2008 Jul 15;270(1-2):23-7. doi: 10.1016/j.jns.2008.01.016. Epub 2008 Mar 7. J Neurol Sci. 2008. PMID: 18314141 Free PMC article.
336 results