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Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiencyKEMP, John P; SMITH, Paul M; CZERMIN, Birgit et al.Brain. 2011, Vol 134, pp 183-195, issn 0006-8950, 13 p., 1Article

A New Phenotype of Brain Iron Accumulation with Dystonia, Optic Atrophy, and Peripheral NeuropathyHORVATH, Rita; HOLINSKI-FEDER, Elke; NURNBERG, Peter et al.Movement disorders. 2012, Vol 27, Num 6, pp 789-793, issn 0885-3185, 5 p.Article

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathyGIORDANO, Carla; LOMMARINI, Luisa; FANELLI, Francesca et al.Brain. 2014, Vol 137, pp 335-353, issn 0006-8950, 19 p., 2Article

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathyHORVATH, Rita; KEMP, John P; KOLLBERG, Gittan et al.Brain. 2009, Vol 132, pp 3165-3174, issn 0006-8950, 10 p., 11Article

Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PDPYLE, Angela; FOLTYNIE, Thomas; BURN, David J et al.Annals of neurology. 2005, Vol 57, Num 4, pp 564-567, issn 0364-5134, 4 p.Article

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenancePFEFFER, Gerald; GORMAN, Gráinne S; PYLE, Angela et al.Brain. 2014, Vol 137, pp 1323-1336, issn 0006-8950, 14 p., 5Article

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex DeficienciesTAYLOR, Robert W; PYLE, Angela; YARHAM, John W et al.JAMA, the journal of the American Medical Association. 2014, Vol 312, Num 1, pp 68-77, issn 0098-7484, 10 p.Article

Mitochondrial DNA and survival after sepsis : a prospective studyBAUDOUIN, Simon V; SAUNDERS, David; TIANGYOU, Watcharee et al.Lancet (British edition). 2005, Vol 366, Num 9503, pp 2118-2121, issn 0140-6736, 4 p.Article

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3HORVATH, Rita; CZERMIN, Birgit; BRODHUN, Michael et al.Journal of neurology, neurosurgery and psychiatry. 2012, Vol 83, Num 2, pp 174-178, issn 0022-3050, 5 p.Article

Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome SequencingPYLE, Angela; GRIFFIN, Helen; YU-WAI-MAN, Patrick et al.Archives of neurology (Chicago). 2012, Vol 69, Num 10, pp 1351-1354, issn 0003-9942, 4 p.Article

Clinical expression of leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundHUDSON, Gavin; CARELLI, Valerio; VALENTINO, Maria Lucia et al.American journal of human genetics. 2007, Vol 81, Num 2, pp 228-233, issn 0002-9297, 6 p.Article

OPA1 MUTATIONS INDUCE mtDNA PROLIFERATION IN LEUKOCYTES OF PATIENTS WITH DOMINANT OPTIC ATROPHYSITARZ, Kamil S; ALMIND, Gitte J; HORVATH, Rita et al.Neurology. 2012, Vol 79, Num 14, pp 1515-1517, issn 0028-3878, 3 p.Article

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutationsSCHARA, Ulrike; VON KLEIST-RETZOW, Jürgen-Christoph; HORVATH, Rita et al.Journal of inherited metabolic disease. 2011, Vol 34, Num 1, pp 197-201, issn 0141-8955, 5 p.Article

Fall in circulating mononuclear cell mitochondrial DNA content in human sepsisPYLE, Angela; BURN, David J; GORDON, Charlotte et al.Intensive care medicine (Print). 2010, Vol 36, Num 6, pp 956-962, issn 0342-4642, 7 p.Article

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutationPYLE, Angela; TAYLOR, Robert W; DURHAM, Steve E et al.Journal of medical genetics. 2007, Vol 44, Num 1, pp 69-74, issn 0022-2593, 6 p.Article

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