PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Neuropathology10.1111/j.1440-1789.1998.tb00122.x1998183321-327MERRF/MELAS overlap syndrome associated with 3243 tRNALeu(UUR)mutation of mitochondrial DNAYoji Onishi, Motoyoshi Yamazaki, Hiroyuki Shibuya, Yoshinori Tanno, Shoji Tsujihttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1440-1789.1998.tb00122.x, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1440-1789.1998.tb00122.x/fullpdf
Clinical Endocrinology10.1046/j.1365-2265.1998.00455.x1998492265-270Autoimmune IDDM in a sporadic MELAS patient with mitochondrial tRNALeu(UUR) mutationChien-Ning Huang, Shiou-Hwa Jee, Juey-Jen Hwang, Yea-Fhey Kuo, Lee-Ming Chuanghttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1365-2265.1998.00455.x, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1365-2265.1998.00455.x, http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2265.1998.00455.x/fullpdf
Annals of the New York Academy of Sciences10.1196/annals.1338.05820051042182-87High Prevalence of the COII/tRNALysIntergenic 9-bp Deletion in Mitochondrial DNA of Taiwanese Patients with MELAS or MERRF SyndromeCHIN-SAN LIU, WEN-LING CHENG, YI-YUN CHEN, YI-SHING MA, CHENG-YOONG PANG, YAU-HUEI WEIhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1196%2Fannals.1338.058, http://onlinelibrary.wiley.com/wol1/doi/10.1196/annals.1338.058/fullpdf
European Journal of Human Genetics10.1159/00047239019931180-87A MERRF/MELAS Overlap Syndrome Associated with a New Point Mutation in the Mitochondrial DNA tRNA^Lys GeneMassimo Zeviani, Francesco Muntoni, Nicola Savarese, Gigliola Serra, Valeria Tiranti, Franco Carrara, Caterina Mariotti, Stefano DiDonatohttps://www.karger.com/Article/Pdf/472390
Journal of the Neurological Sciences10.1016/0022-510x(95)00022-t19951302154-160Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNAM.G. Hanna, I.P. Nelson, J.A. Morgan-Hughes, A.E. Hardinghttps://api.elsevier.com/content/article/PII:0022510X9500022T?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:0022510X9500022T?httpAccept=text/plain
Journal of the Neurological Sciences10.1016/0022-510x(95)00199-c1995132195Erratum to “Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA”M.G. Hanna, I.P. Nelson, J.A. Morgan-Hughes, A.E. Hardinghttps://api.elsevier.com/content/article/PII:0022510X9500199C?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:0022510X9500199C?httpAccept=text/plain
FEBS Letters10.1016/s0014-5793(98)00928-419984333269-274Impairment of tRNA processing by point mutations in mitochondrial tRNALeu(UUR)associated with mitochondrial diseasesWalter Rossmanith, Robert M. Karwanhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1016%2FS0014-5793%2898%2900928-4, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1016%2FS0014-5793(98)00928-4, http://onlinelibrary.wiley.com/wol1/doi/10.1016/S0014-5793(98)00928-4/fullpdf
Neuromuscular Disorders10.1016/0960-8966(93)90122-z199335-6593-597MERRF family with 8344 mutation in tRNA (lys). Evidence of a mitochondrial vasculopathy in muscle biopsiesM. Coquet, F. Degoul, A. Vital, M. Malgat, J.P. Mazat, C. Louvet-Giendaj, D. Fontan, F. Tison, M. Diry, C. Marsachttps://api.elsevier.com/content/article/PII:096089669390122Z?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:096089669390122Z?httpAccept=text/plain
FEBS Letters10.1016/j.febslet.2004.11.00420045781-2135-139Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS-associated mutationsRui Hao, Yong-Neng Yao, Yong-Gang Zheng, Min-Gang Xu, En-Duo Wanghttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1016%2Fj.febslet.2004.11.004, https://onlinelibrary.wiley.com/doi/full/10.1016/j.febslet.2004.11.004
Annals of Human Genetics10.1111/j.1469-1809.2012.00711.x2012764296-300Familial Clustering Strongly Suggests that the Phenotypic Variation of the 8344 A>G Lys Mitochondrial tRNA Mutation is Encoded in cisKyriakos Kazakos, Kalliopi Kotsa, Maria Yavropoulou, Alexander Dionyssopoulos, Rosemary Grabs, John Yovos, Constantin Polychronakoshttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1469-1809.2012.00711.x, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-1809.2012.00711.x/fullpdf