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Page 1
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.
Hidalgo-Gutierrez A, Shintaku J, Ramon J, Barriocanal-Casado E, Pesini A, Saneto RP, Garrabou G, Milisenda JC, Matas-Garcia A, Gort L, Ugarteburu O, Gu Y, Koganti L, Wang T, Tadesse S, Meneri M, Sciacco M, Wang S, Tanji K, Horwitz MS, Dorschner MO, Mansukhani M, Comi GP, Ronchi D, Marti R, Ribes A, Tort F, Hirano M. Hidalgo-Gutierrez A, et al. Among authors: tanji k. Ann Neurol. 2024 Dec;96(6):1209-1224. doi: 10.1002/ana.27071. Epub 2024 Sep 4. Ann Neurol. 2024. PMID: 39230499 Free article.
Clinical manifestations of mitochondrial DNA depletion.
Vu TH, Sciacco M, Tanji K, Nichter C, Bonilla E, Chatkupt S, Maertens P, Shanske S, Mendell J, Koenigsberger MR, Sharer L, Schon EA, DiMauro S, DeVivo DC. Vu TH, et al. Among authors: tanji k. Neurology. 1998 Jun;50(6):1783-90. doi: 10.1212/wnl.50.6.1783. Neurology. 1998. PMID: 9633728
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 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.
341 results