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Mitochondrial respiratory chain disorders I: mitochondrial DNA defects.
Leonard JV, Schapira AH. Leonard JV, et al. Lancet. 2000 Jan 22;355(9200):299-304. doi: 10.1016/s0140-6736(99)05225-3. Lancet. 2000. PMID: 10675086 Review.
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
Taanman JW, Rahman S, Pagnamenta AT, Morris AA, Bitner-Glindzicz M, Wolf NI, Leonard JV, Clayton PT, Schapira AH. Taanman JW, et al. Among authors: leonard jv. Hum Mutat. 2009 Feb;30(2):248-54. doi: 10.1002/humu.20852. Hum Mutat. 2009. PMID: 18828154
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S. Ferdinandusse S, et al. Among authors: leonard jv. Orphanet J Rare Dis. 2013 Dec 4;8:188. doi: 10.1186/1750-1172-8-188. Orphanet J Rare Dis. 2013. PMID: 24299452 Free PMC article.
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.
Pagnamenta AT, Hargreaves IP, Duncan AJ, Taanman JW, Heales SJ, Land JM, Bitner-Glindzicz M, Leonard JV, Rahman S. Pagnamenta AT, et al. Among authors: leonard jv. Mol Genet Metab. 2006 Nov;89(3):214-21. doi: 10.1016/j.ymgme.2006.05.003. Epub 2006 Jun 23. Mol Genet Metab. 2006. PMID: 16798039
Urea cycle disorders.
Leonard JV, Morris AA. Leonard JV, et al. Semin Neonatol. 2002 Feb;7(1):27-35. doi: 10.1053/siny.2001.0085. Semin Neonatol. 2002. PMID: 12069536 Review.
Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit.
Williams SL, Scholte HR, Gray RG, Leonard JV, Schapira AH, Taanman JW. Williams SL, et al. Among authors: leonard jv. Lab Invest. 2001 Aug;81(8):1069-77. doi: 10.1038/labinvest.3780319. Lab Invest. 2001. PMID: 11502858
Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.
Blake JC, Taanman JW, Morris AM, Gray RG, Cooper JM, McKiernan PJ, Leonard JV, Schapira AH. Blake JC, et al. Among authors: leonard jv. Am J Pathol. 1999 Jul;155(1):67-70. doi: 10.1016/S0002-9440(10)65100-0. Am J Pathol. 1999. PMID: 10393838 Free PMC article.
Mitochondrial DNA point mutation T9176C in Leigh syndrome.
Wilson CJ, Wood NW, Leonard JV, Surtees R, Rahman S. Wilson CJ, et al. Among authors: leonard jv. J Child Neurol. 2000 Dec;15(12):830-3. doi: 10.1177/088307380001501218. J Child Neurol. 2000. PMID: 11198506
Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms.
Rahman S, Lake BD, Taanman JW, Hanna MG, Cooper JM, Schapira AH, Leonard JV. Rahman S, et al. Among authors: leonard jv. Brain. 2000 Mar;123 Pt 3:591-600. doi: 10.1093/brain/123.3.591. Brain. 2000. PMID: 10686181
Deficiency of respiratory chain complex I is a common cause of Leigh disease.
Morris AA, Leonard JV, Brown GK, Bidouki SK, Bindoff LA, Woodward CE, Harding AE, Lake BD, Harding BN, Farrell MA, Bell JE, Mirakhur M, Turnbull DM. Morris AA, et al. Among authors: leonard jv. Ann Neurol. 1996 Jul;40(1):25-30. doi: 10.1002/ana.410400107. Ann Neurol. 1996. PMID: 8687187
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