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Journal Abstract Search
179 related items for PubMed ID: 11596342
21. Human NADH:ubiquinone oxidoreductase. Smeitink J, Sengers R, Trijbels F, van den Heuvel L. J Bioenerg Biomembr; 2001 Jun; 33(3):259-66. PubMed ID: 11695836 [Abstract] [Full Text] [Related]
22. Progressive encephalopathy and complex I deficiency associated with mutations in MTND1. Moslemi AR, Darin N, Tulinius M, Wiklund LM, Holme E, Oldfors A. Neuropediatrics; 2008 Feb; 39(1):24-8. PubMed ID: 18504678 [Abstract] [Full Text] [Related]
24. Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency. Meulemans A, Lissens W, Van Coster R, De Meirleir L, Smet J, Nassogne MC, Liebaers I, Seneca S. Eur J Paediatr Neurol; 2004 Feb; 8(6):299-306. PubMed ID: 15542384 [Abstract] [Full Text] [Related]
25. Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis. Ueki I, Koga Y, Povalko N, Akita Y, Nishioka J, Yatsuga S, Fukiyama R, Matsuishi T. Mitochondrion; 2006 Feb; 6(1):29-36. PubMed ID: 16337222 [Abstract] [Full Text] [Related]
26. [Complex III (ubiquinone-cytochrome c reductase) deficiency]. Nonaka I. Ryoikibetsu Shokogun Shirizu; 2001 Feb; (36):135-6. PubMed ID: 11596344 [No Abstract] [Full Text] [Related]
27. Anaesthetic considerations for a 2-month-old infant with suspected complex I respiratory chain deficiency. Kuhnigk H, Wunder C, Roewer N. Paediatr Anaesth; 2003 Jan; 13(1):83-5. PubMed ID: 12535047 [No Abstract] [Full Text] [Related]
28. [Complex I deficiency due to mutations in nuclear-encoded subunit genes]. Komaki H, Goto Y. Nihon Rinsho; 2002 Apr; 60 Suppl 4():371-5. PubMed ID: 12013889 [No Abstract] [Full Text] [Related]
29. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Bénit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rötig A. Am J Hum Genet; 2001 Jun; 68(6):1344-52. PubMed ID: 11349233 [Abstract] [Full Text] [Related]
30. Identification of a novel T398A mutation in the ND5 subunit of the mitochondrial complex I and of three novel mtDNA polymorphisms in two patients presenting ocular symptoms. Batandier C, Picard A, Tessier N, Lunardi J. Hum Mutat; 2000 Dec; 16(6):532. PubMed ID: 11102991 [No Abstract] [Full Text] [Related]
31. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Bénit P, Beugnot R, Chretien D, Giurgea I, De Lonlay-Debeney P, Issartel JP, Corral-Debrinski M, Kerscher S, Rustin P, Rötig A, Munnich A. Hum Mutat; 2003 Jun; 21(6):582-6. PubMed ID: 12754703 [Abstract] [Full Text] [Related]
32. Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene. Bruno C, Santorelli FM, Assereto S, Tonoli E, Tessa A, Traverso M, Scapolan S, Bado M, Tedeschi S, Minetti C. Muscle Nerve; 2003 Oct; 28(4):508-11. PubMed ID: 14506725 [Abstract] [Full Text] [Related]
33. Impact of mutations affecting ND mitochondria-encoded subunits on the activity and assembly of complex I in Chlamydomonas. Implication for the structural organization of the enzyme. Cardol P, Matagne RF, Remacle C. J Mol Biol; 2002 Jun 21; 319(5):1211-21. PubMed ID: 12079358 [Abstract] [Full Text] [Related]
37. Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report. Montero R, Sánchez-Alcázar JA, Briones P, Navarro-Sastre A, Gallardo E, Bornstein B, Herrero-Martín D, Rivera H, Martin MA, Marti R, García-Cazorla A, Montoya J, Navas P, Artuch R. Clin Biochem; 2009 May 21; 42(7-8):742-5. PubMed ID: 19094978 [Abstract] [Full Text] [Related]
39. [Leigh disease in an infant with deficiency of complex I of the mitochondrial respiratory chain]. Verdú Pérez A, Boyer Mora L, Garde Morales T, Orradre Romeo JL, Alonso Martín JA. An Esp Pediatr; 1996 Sep 21; 45(3):305-8. PubMed ID: 9019978 [No Abstract] [Full Text] [Related]
40. Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy. Musumeci O, Andreu AL, Shanske S, Bresolin N, Comi GP, Rothstein R, Schon EA, DiMauro S. Am J Hum Genet; 2000 Jun 21; 66(6):1900-4. PubMed ID: 10775530 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]