These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
7. The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study. Hammans SR; Sweeney MG; Hanna MG; Brockington M; Morgan-Hughes JA; Harding AE Brain; 1995 Jun; 118 ( Pt 3)():721-34. PubMed ID: 7600089 [TBL] [Abstract][Full Text] [Related]
8. [Comparison of clinical pictures of mitochondrial encephalomyopathy with tRNA(Leu(UUR)) mutation in 3243 with that in 3254]. Mitsuoka T; Kawarai T; Watanabe C; Katayama S; Nakamura S No To Shinkei; 1998 Dec; 50(12):1089-92. PubMed ID: 9989353 [TBL] [Abstract][Full Text] [Related]
9. Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion. Nakai A; Goto Y; Fujisawa K; Shigematsu Y; Kikawa Y; Konishi Y; Nonaka I; Sudo M Lancet; 1994 Jun; 343(8910):1397-8. PubMed ID: 7910887 [TBL] [Abstract][Full Text] [Related]
10. [Mitochondrial neurogastrointestinal encephalomyopathy presenting with protein-losing gastroenteropathy and serum copper deficiency: a case report]. Hamano H; Ohta T; Takekawa Y; Kouda K; Shinohara Y Rinsho Shinkeigaku; 1997 Oct; 37(10):917-22. PubMed ID: 9490904 [TBL] [Abstract][Full Text] [Related]
11. [Clinical and investigative approaches in mitochondrial diseases. A review of 15 cases]. Arpa J; Campos Y; Cruz Martínez A; Gutiérrez Molina M; Arenas J; Alonso M; Plaza I; Morales C; Palomo F; Barreiro P Neurologia; 1994 Oct; 9(8):324-36. PubMed ID: 7803049 [TBL] [Abstract][Full Text] [Related]
12. Multiple mtDNA deletions with features of MNGIE. Vissing J; Ravn K; Danielsen ER; Dunø M; Wibrand F; Wevers RA; Schwartz M Neurology; 2002 Sep; 59(6):926-9. PubMed ID: 12297582 [TBL] [Abstract][Full Text] [Related]
13. [Clinical characterization of diabetes mellitus in the families with mitochondrial encephalomyopathies]. Suzuki S Nihon Rinsho; 1994 Oct; 52(10):2606-10. PubMed ID: 7527090 [TBL] [Abstract][Full Text] [Related]
14. Ragged red or ragged blue fibers. Reichmann H; Vogler L; Seibel P Eur Neurol; 1996; 36(2):98-102. PubMed ID: 8654494 [TBL] [Abstract][Full Text] [Related]
15. RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. Reyes A; Melchionda L; Nasca A; Carrara F; Lamantea E; Zanolini A; Lamperti C; Fang M; Zhang J; Ronchi D; Bonato S; Fagiolari G; Moggio M; Ghezzi D; Zeviani M Am J Hum Genet; 2015 Jul; 97(1):186-93. PubMed ID: 26094573 [TBL] [Abstract][Full Text] [Related]
16. [Maternally inherited diabetes mellitus, deafness, chronic progressive external ophthalmoplegia and myopathy as the result of A3243G mutation of mtDNA]. Gál A; Szabó A; Pentelényi K; Pál Z Orv Hetil; 2008 Aug; 149(34):1593-8. PubMed ID: 18708313 [TBL] [Abstract][Full Text] [Related]
17. Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome. Papadimitriou A; Comi GP; Hadjigeorgiou GM; Bordoni A; Sciacco M; Napoli L; Prelle A; Moggio M; Fagiolari G; Bresolin N; Salani S; Anastasopoulos I; Giassakis G; Divari R; Scarlato G Neurology; 1998 Oct; 51(4):1086-92. PubMed ID: 9781534 [TBL] [Abstract][Full Text] [Related]
18. [Mitochondrial encephalomyopathy associated with parkinsonism and a point mutation in the mitochondrial tRNA(Leu)(UUR)) gene]. Hara K; Yamamoto M; Anegawa T; Sakuta R; Nakamura M Rinsho Shinkeigaku; 1994 Apr; 34(4):361-5. PubMed ID: 8026131 [TBL] [Abstract][Full Text] [Related]