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Journal Abstract Search
194 related items for PubMed ID: 15625630
1. [A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain]. Raspall-Chaure M, Solano A, Vázquez E, Macaya-Ruiz A, del Toro-Riera M, Cabezuelo-Briones A, Montoya J, Andreu A, Roig-Quilis M. Rev Neurol; ; 39(12):1129-32. PubMed ID: 15625630 [Abstract] [Full Text] [Related]
2. Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene. Solano A, Roig M, Vives-Bauza C, Hernandez-Peña J, Garcia-Arumi E, Playan A, Lopez-Perez MJ, Andreu AL, Montoya J. Ann Neurol; 2003 Oct; 54(4):527-30. PubMed ID: 14520668 [Abstract] [Full Text] [Related]
3. Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence. Leshinsky-Silver E, Shuvalov R, Inbar S, Cohen S, Lev D, Lerman-Sagie T. J Child Neurol; 2011 Apr; 26(4):476-81. PubMed ID: 21196529 [Abstract] [Full Text] [Related]
4. Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis. Oglesbee D, Freedenberg D, Kramer KA, Anderson BD, Hahn SH. Pediatr Neurol; 2006 Oct; 35(4):289-92. PubMed ID: 16996407 [Abstract] [Full Text] [Related]
5. Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG. Ann Neurol; 2003 Nov; 54(5):665-9. PubMed ID: 14595656 [Abstract] [Full Text] [Related]
6. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel H. Pediatrics; 2004 Oct; 114(4):925-31. PubMed ID: 15466086 [Abstract] [Full Text] [Related]
7. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D, Thorburn DR. Ann Neurol; 2003 Oct; 54(4):473-8. PubMed ID: 14520659 [Abstract] [Full Text] [Related]
8. Respiratory chain and mitochondrial deoxyribonucleic acid in blood cells from patients with focal and generalized dystonia. Reichmann H, Naumann M, Hauck S, Janetzky B. Mov Disord; 1994 Nov; 9(6):597-600. PubMed ID: 7845398 [Abstract] [Full Text] [Related]
9. [A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation]. Wei XQ, Kong QP, Zhang Y, Yang YL, Chang XZ, Qi Y, Qi ZY, Xiao JX, Qin J, Wu XR. Zhongguo Dang Dai Er Ke Za Zhi; 2009 May; 11(5):333-6. PubMed ID: 19470250 [Abstract] [Full Text] [Related]
10. Epilepsia partialis continua and defects in the mitochondrial respiratory chain. Riquet A, Auvin S, Cuisset JM, Lamblin MD, Sablonnière B, Cuvellier JC, Soto-Ares G, Maurage CA, Vallée L. Epilepsy Res; 2008 Jan; 78(1):1-6. PubMed ID: 18022351 [Abstract] [Full Text] [Related]
11. Diagnosis of mitochondrial diseases: clinical and histological study of sixty patients with ragged red fibers. Challa S, Kanikannan MA, Murthy JM, Bhoompally VR, Surath M. Neurol India; 2004 Sep; 52(3):353-8. PubMed ID: 15472426 [Abstract] [Full Text] [Related]
15. Mitochondrial disease criteria: diagnostic applications in children. Morava E, van den Heuvel L, Hol F, de Vries MC, Hogeveen M, Rodenburg RJ, Smeitink JA. Neurology; 2006 Nov 28; 67(10):1823-6. PubMed ID: 17130416 [Abstract] [Full Text] [Related]
16. Dystonia as the major manifestation of Leigh's syndrome. Lera G, Bhatia K, Marsden CD. Mov Disord; 1994 Nov 28; 9(6):642-9. PubMed ID: 7845405 [Abstract] [Full Text] [Related]
18. The importance of liver biopsy in the investigation of possible mitochondrial respiratory chain disease. Panetta J, Gibson K, Kirby DM, Thorburn DR, Boneh A. Neuropediatrics; 2005 Aug 28; 36(4):256-9. PubMed ID: 16138250 [Abstract] [Full Text] [Related]
19. A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance. Mayr JA, Moslemi AR, Förster H, Kamper A, Idriceanu C, Muss W, Huemer M, Oldfors A, Sperl W. Neuromuscul Disord; 2006 Dec 28; 16(12):874-7. PubMed ID: 17056256 [Abstract] [Full Text] [Related]