Newcastle University

Institute of Genetic Medicine Publications

Year: 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 2002 2001 2000 1999 1998 1997 1996 1995 1994 1993 1992 1991 1990 1989 1988 1987 1986 1985 1984 1979 1978

• Muntoni F, Bushby K, Van Ommen G. 128th ENMC International Workshop on 'Preclinical optimization and Phase I/II Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy' 22-24 October 2004, Naarden, The Netherlands. Neuromuscular Disorders 2005, 15(6), 450-457.
• Bertini E, Burghes A, Bushby K, Estournet-Mathiaud B, Finkel RS, Hughes RAC, Iannaccone ST, Melki J, Mercuri E, Muntoni F, Voit T, Reitter B, Swoboda KJ, Tiziano D, Tizzano E, Topaloglu H, Wirth B, Zerres K. 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. Neuromuscular Disorders 2005, 15(11), 802-816.
• Sarma S, Kerwin J, Puelles L, Scott M, Strachan T, Feng G, Sharpe J, Davidson D, Baldock R, Lindsay S. 3D modelling, gene expression mapping and post-mapping image analysis in the developing human brain. In: Evolution and Development of Nervous Systems - Proceedings of the 4th European Conference on Comparative Neurobiology. 2005, Oxford: Brain Research Bulletin, Elsevier.
• Potter C, Worthington J, Silman A, Barton A. TNFR2 is not associated with rheumatoid arthritis susceptibility in a Caucasian population. Arthritis & Rheumatism 2005, 52(8), 2579-81.
• Spranger JW, Zabel B, Kennedy J, Jackson G, Briggs M. A disorder resembling pseudoachondroplasia but without COMP mutation. American Journal of Medical Genetics Part A 2005, 132A(1), 20-24.
• McKinney PA, Jones S, Parslow R, Davey N, Darowski M, Chaudhry B, Stack C, Parry G, Draper ES, PICANet Consent Study Grp. A feasibility study of signed consent for the collection of patient identifiable information for a national paediatric clinical audit database. British Medical Journal 2005, 330(7496), 877-879.
• Jennings CE, Owen CJ, Wilson V, Pearce SHS. A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population. Journal of Molecular Endocrinology 2005, 34(3), 859-863.
• Deschauer M, Hudson G, Muller T, Taylor RW, Chinnery PF, Zierz S. A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. Neuromuscular Disorders 2005, 15(4), 311-315.
• Ressiniotis T, Griffiths PG, Keers SM, Chinnery PF, Birch M. A polymorphism at codon 31 of gene p21 is not associated with primary open angle glaucoma in Caucasians. BMC Ophthalmology 2005, 5(1), 5.
• Cockburn D, Dyson L, Emslie J, Ellwood S, Kennedy D, Williams K, Blair M, Shaw R, Burn J. A pragmatic solution to data exchange between NHS regional molecular genetics laboratories: L2L. In: British Human Genetics Conference. 2005, University of York, UK: Journal of Medical Genetics, BMJ Group.
• Treece K, Narayanan K, Wass JAH, Karavitaki N, Parker D, Howlett T, Quinton R, Page R. A prospective follow up study of cognitive function in patients with pituitary tumours requiring surgery. In: 196th Meeting of the Society for Endocrinology. 2005, Royal College of Physicians, London: BioScientifica.
• Gaukrodger N, Mayosi BM, Imrie H, Avery P, Baker M, Connell JMC, Watkins H, Farrall M, Keavney B. A rare variant of the leptin gene has large effects on blood pressure and carotid intima-medial thickness: a study of 1428 individuals in 248 families. Journal of Medical Genetics 2005, 42(6), 474-478.
• Mahad DJ, Hellden A, Jarvis J, Mitra D, Gholkar A, Chinnery PF. Aciclovir induced posterior leucoencephalopathy. Journal of Neurology, Neurosurgery and Psychiatry 2005, 76(9), 1308-1309.
• Shenderey RL, Thompson N, Mansfield JC, Rees C. Adenocarcinoma as a complication of small bowel Crohn's disease. European Journal of Gastroenterology & Hepatology 2005, 17(11), 1255-1257.
• Quinton R. Adolescent development - Advice in ABC of adolescence is potentially misleading. British Medical Journal 2005, 330(7494), 789-789.
• Wilson V, Santibanez-Koref M, Strain L, Eden J, Curtis A, Burn J. Altered allele expression in hereditary nonpolyosis colon cancer (HNPCC) patients with nonsense mutations in the Mut L homologue (MLH1) gene. In: Journal of Medical Genetics: British Human Genetics Conference. 2005, York, UK: BMJ Group.
• O'Doherty A, Ruf S, Mulligan C, Hildreth V, Errington ML, Cooke S, Sesay A, Modino S, Vanes L, Hernandez D, Linehan JM, Sharpe PT, Brandner S, Bliss TVP, Henderson DJ, Nizetic D, Tybulewicz VLJ, Fisher EMC. An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 2005, 309(5743), 2033-2037.
• Stojkovic P, Lako M, Stewart R, Przyborski S, Armstrong L, Evans J, Murdoch A, Strachan T, Stojkovic M. An autogeneic feeder cell system that efficiently supports growth of undifferentiated human embryonic stem cells. Stem Cells 2005, 23(3), 306-314.
• Stojkovic P, Lako M, Stewart R, Przyborski S, Armstrong L, Evans J, Herbert M, Hyslop L, Ahmad S, Murdoch A, Strachan T, Stojkovic M. An Autogeneic Feeder Cell System That Efficiently Supports Growth of Undifferentiated Human Embryonic Stem Cells. Stem Cells 2005, 23(3), 306-314.
• Muller JS, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, Lochmuller H, Abicht A. An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome. Neurology 2005, 65(3), 463-465.
• Relton CL, Pearce MS, Burn J, Parker L. An investigation of folate-related genetic factors in the determination of birthweight. Paediatric and Perinatal Epidemiology 2005, 19(5), 360-367.
• Soltanzadeh P, Muller JS, Ghorbani A, Abicht A, Lochmuller H, Soltanzadeh A. An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X). Journal of Neurology, Neurosurgery and Psychiatry 2005, 76(7), 1039-1040.
• Lindsay S, Sarma S, Martinez-De-La-Torre M, Kerwin J, Scott M, Luis Ferran J, Baldock R, Puelles L. Anatomical and gene expression mapping of the ventral pallium in a three-dimensional model of developing human brain. Neuroscience 2005, 136(3), 625-632.
• Davies NP, Imbrici P, Fialho D, Herd C, Bilsland LG, Weber A, Mueller R, Hilton-Jones D, Ealing J, Boothman BR, Giunti P, Parsons LM, Thomas M, Manzur AY, Jurkat-Rott K, Lehmann-Horn F, Chinnery PF, Rose M, Kullmann DM, Hanna MG. Andersen-Tawil syndrome: New potassium channel mutations and possible phenotypic variation. Neurology 2005, 65(7), 1083-1089.
• Endesfelder S, Kliche A, Lochmuller H, von Moers A, Speer A. Antisense oligonucleotides and short interfering RNAs silencing the cyclin-dependent kinase inhibitor p21 improve proliferation of Duchenne muscular dystrophy patients' primary skeletal myoblasts. Journal of Molecular Medicine 2005, 83(1), 64-71.
• Baker M, Gaukrodger N, Mayosi B, Imrie H, Farrall ML, Watkins H, Connell JMC, Avery PJ, Keavney BD. Association between common polymorphisms of the proopiomelanocortin gene and body fat distribution: A family study. Diabetes 2005, 54(8), 2492-2496.
• Daly MJ, Pearce AV, Farwell L, Fisher SA, Latiano A, Prescott NJ, Forbes A, Mansfield J, Sanderson J, Langelier D, Cohen A, Bitton A, Wild G, Lewis CM, Annese V, Mathew CG, Rioux JD. Association of DLG5 R30Q variant with inflammatory bowel disease. European Journal of Human Genetics 2005, 13(7), 835-839.
• Lampe AK, Dunn DM, Von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu M-L, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KMD, Weiss RB. Automated genomic sequence analysis of the three collagen VI genes: Applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. Journal of Medical Genetics 2005, 42(2), 108-120.
• Armstrong L, Saretzki G, Peters H, Wappler I, Evans J, Hole N, von Zglinicki T, Lako M. “Overexpression of Tert results in enhanced proliferation of murine ES cells, protection from oxidative stress and commitment to haematopoietic lineages”. Stem Cells 2005, 23(4), 516-529.
• Karamohamed S, Latourelle JC, Racette BA, Perlmutter JS, Wooten GF, Lew M, Klein C, Shill H, Golbe LI, Mark MH, Guttman M, Nicholson G, Wilk JB, Saint-Hilaire M, DeStefano L, Prakash R, Tobin S, Williamson J, Suchowersky O, Labell N, Growdon BNJ, Singer C, Watts R, Goldwurm S, Pezzoli G, Baker KB, Giroux ML, Pramstaller PP, Burn DJ, Chinnery P, Sherman S, Vieregge P, Litvan I, Gusella JF, Myers RH, Parsian A. BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD study. Neurology 2005, 65(11), 1823-1825.
• Horvath R, Walter MC, Lochmuller H, Hubner A, Karcagi V, Piko H, Timar L, Komoly S. Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family. Ideggyogyaszati szemle 2005, 58(1-2), 52-58.
• Eley L, Yates LM, Goodship JA. Cilia and disease. Current Opinion in Genetics & Development 2005, 15(3), 308-314.
• Eley L, Yates LM, Goodship JA. Cilia and disease. Current Opinion in Genetics and Development 2005, 15(3), 308-314.
• Barisic N, Muller JS, Paucic-Kirincic E, Gazdik M, Lah-Tomulic K, Pertl A, Sertic J, Zurak N, Lochmuller H, Abicht A. Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. European Journal of Paediatric Neurology 2005, 9(1), 7-12.
• Howell N, Kubacka I, Keers SM, Turnbull DM, Chinnery PF. Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree. Human Genetics 2005, 116(1-2), 28-32.
• Lampe AK, Bushby KMD. Collagen VI related muscle disorders. Journal of Medical Genetics 2005, 42(9), 673-685.
• Keavney B. Common genetic polymorphisms and coronary artery disease. Seminars in Vascular Medicine 2005, 2(3), 233-241.
• Schoser BG, Frosk P, Engel AG, Klutzny U, Lochmuller H, Wrogemann K. Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Annals of Neurology 2005, 57(4), 591-595.
• Kennedy J, Jackson G, Ramsden S, Taylor J, Newman W, Wright MJ, Donnai D, Elles R, Briggs MD. COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. European Journal of Human Genetics 2005, 13(5), 547-555.
• Steel DHW. Comparative study of first-day postoperative cataract review methods - Reply. Journal of Cataract and Refractive Surgery 2005, 31(12), 2243-2243.
• Howson JMM, Barratt BJ, Todd JA, Cordell HJ. Comparison of population and family-based methods for genetic association analysis in the presence of interacting loci. Genetic Epidemiology 2005, 29(1), 51-67.
• Griggs RC, Bushby K. Continued need for caution in the diagnosis of Duchenne muscular dystrophy. Neurology 2005, 64(9), 1498-1499.
• Richardson GD, Arnott EC, Whitehouse CJ, Lawrence CM, Hole N, Jahoda CAB. Cultured cells from the adult human hair follicle dermis can be directed toward adipogenic and osteogenic differentiation. Journal of Investigative Dermatology 2005, 124(5), 1090-1091.
• Barron MJ, Chinnery PF, Howel D, Blakely EL, Schaefer AM, Taylor RW, Turnbull DM. Cytochrome c oxidase deficient muscle fibres: Substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy. Neuromuscular Disorders 2005, 15(11), 768-774.
• Stojkovic M, Stojkovic P, Leary C, Hall VJ, Armstrong L, Herbert M, Nesbitt M, Lako M, Murdoch A. Derivation of a human blastocyst after heterologous nuclear transfer to donated oocytes. Reproductive BioMedicine Online 2005, 11(2), 226-231.
• Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Yaou RB, De Visser M, Van Der Kooi AJ, Bonnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu M-L, Pepe G. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology 2005, 64(11), 1931-1937.
• Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmuller H, Wilhelm K, Urbach H, Schroder R. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. Journal of Neurology 2005, 252(5), 538-547.
• Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, Tan PL, Phillips HM, Leroux MR, Henderson DJ, Murdoch JN, Copp AJ, Eliot M-M, Lupski JR, Kemp DT, Dollfus H, Tada M, Katsanis N, Forge A, Beales PL. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nature Genetics 2005, 37(10), 1135-1140.
• Weaver JU, Razvi S. Dose of anti-thyroid drugs can effect remission in grave's disease. Endocrine Journal 2005, 52(1), 159-.
• Hyslop L, Stojkovic M, Armstrong L, Walter T, Stojkovic P, Przyborski S, Herbert M, Murdoch A, Strachan T, Lako M. Downregulation of NANOG induces differentiation of human embryonic stem cells to extraembryonic lineages. Stem Cells 2005, 23(8), 1035-1043.
• Owen RI, Tiffin PAC, Steel DHW. Echographic features of a case of malignant intraocular medulloepithelioma. British Journal of Ophthalmology 2005, 89(1), 120-121.
• Crossland DS, Jackson SP, Lyall R, Burn J, O'Sullivan JJ. Employment and advice regarding careers for adults with congenital heart disease. Cardiology in the Young 2005, 15(4), 391-395.
• Cheetham TD. Endocrine disorders. In: Rennie, J, ed. Roberton’s Textbook of Neonatology. Edinburgh, UK: Churchill Livingstone, 2005, pp.chapter 35.2.
• Klinge L, Straub V, Neudorf U, Voit T. Enzyme replacement therapy in classical infantile Pompe disease: Results of a ten-month follow-up study. Neuropediatrics 2005, 36(1), 6-11.
• Ibrahim IM, Lim E-L, Coebergh J-A, Jenkins A, Lewis J, Mitra D, Quinton R. Ethics and pragmatism versus DoH guidelines: what to do?. In: 196th Meeting of the Society for Endocrinology. 2005, Royal College of Physicians, London: BioScientifica.
• Murdoch A, Stojkovic M. Ethics debate is what put Newcastle paper in the news. Nature 2005, 436(7050), 460.
• Jackson MS, Oliver K, Loveland J, Humphray S, Dunham I, Rocchi M, Viggiano L, Park JP, Hurles ME, Santibanez-Koref M. Evidence for widespread reticulate evolution within human duplicons. American Journal of Human Genetics 2005, 77(5), 824-840.
• Mudge JM, Jackson MS. Evolutionary implications of pericentromeric gene expression in humans. Cytogenetic and Genome Research 2005, 108(1-3), 47-57.
• Yu Wai Man CY, Chinnery PF, Griffiths PG. Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders. Neuromuscular Disorders 2005, 15(1), 17-23.
• Relton CL, Pearce MS, Ness A, Burn J. Folate Status and Genetic Selection. Nature Genetics 2005.
• Relton CL, Rankin J. Folic acid - the challenge of unplanned pregnancy and social deprivation. BMJ Rapid Responses: BMJ, 2005. Available at: http://www.bmj.com/cgi/eletters/330/7491/574.
• Relton CL, Hammal DM, Rankin J, Parker L. Folic acid supplementation and social deprivation. Public Health Nutrition 2005, 8(3), 338-340.
• Keavney BD, Mayosi B, Gaukrodger N, Imrie H, Baker M, Fraser R, Ingram M, Watkins H, Farrall M, Davies E, Connell J. Genetic variation at the locus encompassing 11-β hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion. Journal of Clinical Endocrinology and Metabolism 2005, 90(2), 1072-1077.
• Mayosi BM, Avery PJ, Baker M, Gaukrodger N, Imrie H, Green FR, Farrall M, Watkins H, Keavney B. Genotype at the-174G/C polymorphism of the interleukin-6 gene is associated with common carotid artery intimal-medial thickness - Family study and meta-analysis. Stroke 2005, 36(10), 2215-2219.
• Patek CE, Saunders PTK, Miles CG, Berry RL, Hastie ND, Sharpe RM, Hooper ML. Gonadal effects of a mouse Denys-Drash Syndrome mutation. Transgenic Research 2005, 14(5), 691-702.
• Balredin R, Barrett P, Wooff DA, Mansfield JC, Yiannakou Y. How Good is Zoom Endoscopy in Assessing Villous Atrophy in Coeliac Disease?. Endoscopy 2005, 37(10), 994-998.
• Masson S, Nylander D, Mansfield JC. How important is onset of action in ulcerative colitis therapy?. Drugs 2005, 65(15), 2069-2083.
• Stojkovic P, Lako M, Armstrong L, Stojkovic M. Human embryonic stem cells express markers of pluripotency and differentiate under long-term in vitro growth conditions. Medicus 2005, 6(1), 6-10.
• Hyslop LA, Armstrong L, Stojkovic M, Lako M. Human embryonic stem cells: Biology and clinical implications. Expert Reviews in Molecular Medicine 2005, 7(19), 1-21.
• Stojkovic P, Lako M, Przyborski S, Stewart R, Armstrong L, Evans J, Zhang X, Stojkovic M. Human-serum matrix supports undifferentiated growth of human embryonic stem cells. Stem Cells 2005, 23(7), 895-902.
• Hudson G, Keers SM, Yu Wai Man P, Griffiths P, Huoponen K, Savontaus M-L, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IMF, Smeets HJM, Chinnery PF. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. American Journal of Human Genetics 2005, 77(6), 1086-1091.
• Emanueli C, Lako M, Stojkovic M, Madeddu P. In search of the best candidate for regeneration of ischemic tissues: are embryonic/fetal stem cells more advantageous than adult counterparts?. Thrombosis and Haemostasis 2005, 94(4), 738-749.
• Emanueli C, Lako M, Stojkovic M, Madeddu P. In search of the best candidate for regeneration of ischemic tissues: Are embryonic/fetal stem cells more advantageous than adult counterparts?. Thrombosis and Haemostasis 2005, 94(4), 738-749.
• MacGowan GA, Rager J, Shroff SG, Mathier MA. In vivo α-adrenergic responses and troponin I phosphorylation: Anesthesia interactions. Journal of Applied Physiology 2005, 98(4), 1163-1170.
• Todhunter CE, Sutherland-Craggs A, Bartram S, Donaldson PT, Daly AK, Francis RM, Mansfield JC, Thompson NP. Influence of IL-6, COL1A1, and VDR gene polymorphisms on bone mineral density in Crohn's disease. Gut 2005, 54(11), 1579-1584.
• Pearson SJ, Ferguson J, Santibanez-Koref M, Margison GP. Inhibition of O⁶-methylguanine-DNA methyltransferase by an alkyltransferase-like protein from Escherichia coli. Nucleic Acids Research 2005, 33(12), 3837-3844.
• Razvi S, McMillan CV, Weaver JU. Instruments used in measuring symptoms, health status and quality of life in hypothyroidism: A systematic qualitative review. Clinical Endocrinology 2005, 63(6), 617-624.
• Anthony S, Nayar R, McKay G, Woods D, Ball SG, Quinton R. Insulin-lowering therapy with metformin: a newly established treatment in polycystic ovary syndrome with a potential role in the differential diagnosis of severe hyperandrogenism. CME Bulletin Endocrinology & Diabetes 2005, 5(2), 71-77.
• Feng G, Burton N, Hill B, Davidson D, Kerwin JM, Scott M, Lindsay S, Baldock R. JAtlas View: A Java atlas-viewer for browsing biomedical 3D images and atlases. BMC Bioinformatics 2005, 6(47), 7.
• MacColl G, Quinton R. Kallmann's syndrome: Bridging the gaps. Journal of Pediatric Endocrinology and Metabolism 2005, 18(6), 541-543.
• Pearce M, Unwin N, Relton C, Alberti K, Parker L. Lifecourse determinants of fasting and post-challenge glucose at age 50 years: The Newcastle thousand families study. European Journal of Epidemiology 2005, 20(11), 915-923.
• Sellick GS, Longman C, Brockington M, Mahjneh I, Sagi L, Bushby K, Topaloglu H, Muntoni F, Houlston RS. Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3. Human Genetics 2005, 117(2-3), 207-212.
• Krause S, Hinderlich S, Amsili S, Horstkorte R, Wiendl H, Argov Z, Mitrani-Rosenbaum S, Lochmuller H. Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells. Experimental Cell Research 2005, 304(2), 365-379.
• Brummer D, Walter MC, Palmbach M, Knirsch U, Karitzky J, Tomczak R, Braun C, Grundhoff N, Bornemann A, Muller CR, Lochmuller H, Schreiber H. Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations. Acta Myologica 2005, 24(1), 6-16.
• Herbert EN, Laidlaw DA, Williamson TH, Habib M, Steel D. Loss of vision once silicone oil has been removed. Retina 2005, 25(6), 808-809; author reply 809.
• Velaga MR, Wright C, Crofton PM, Allen L, Jennings CE, Cheetham TD. Macroorchidism in two unrelated prepubertal boys with a normal FSH receptor. Hormone Research 2005, 64(1), 3-8.
• Homer HA, McDougall A, Levasseur M, Murdoch AP, Herbert M. Mad2 is required for inhibiting securin and cyclin B degradation following spindle depolymerisation in meiosis I mouse oocytes. Reproduction 2005, 130(6), 829-843.
• Homer HA, McDougall A, Levasseur M, Yallop K, Murdoch AP, Herbert M. Mad2 prevents aneuploidy and premature proteolysis of cyclin B and securin during meiosis I in mouse oocytes. Genes and Development 2005, 19(2), 202-207.
• Ashwell SG, Peaston R, Quinton R. Metanephrine levels and cardiac failure: the chicken or the egg?. In: 7th European Congress of Endocrinology. 2005, Goteborg, Sweden.
• Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Muller C, Muntoni F. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology 2005, 65(12), 1930-1935.
• Craig K, Keers SM, Walls TJ, Curtis A, Chinnery PF. Minimum prevalence of spinocerebellar ataxia 17 in the north east of England. Journal of the Neurological Sciences 2005, 239(1), 105-109.
• Baudouin S, Saunders D, Tiangyou W, Elson J, Poynter J, Pyle A, Keers S, Turnbull D, Howell N, Chinnery P. Mitochondrial DNA and survival after sepsis: A prospective study. Lancet 2005, 366(9503), 2118-2121.
• Durham SE, Bonilla E, Samuels DC, DiMauro S, Chinnery PF. Mitochondrial DNA copy number threshold in mtDNA depletion myopathy. Neurology 2005, 65(3), 453-455.
• Pyle A, Foltynie T, Tiangyou W, Lambert C, Keers SM, Allcock LM, Davison J, Lewis SJ, Perry RH, Barker R, Burn DJ, Chinnery PF. Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD. Annals of Neurology 2005, 57(4), 564-567.
• Chinnery PF, DiMauro S. Mitochondrial hepatopathies. Journal of Hepatology 2005, 43(2), 207-209.
• Hitchins M, Williams R, Cheong K, Halani N, Lin VAP, Packham D, Ku S, Buckle A, Hawkins N, Burn J, Gallinger S, Goldblatt J, Kirk J, Tomlinson I, Scott R, Spigelman A, Suter C, Martin D, Suthers G, Ward R. MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Gastroenterology 2005, 129(5), 1392-1399.
• Van Der Klift H, Wijnen J, Wagner A, Verkuilen P, Tops C, Otway R, Kohonen-Corish M, Vasen H, Oliani C, Barana D, Moller P, DeLozier-Blanchet C, Hutter P, Foulkes W, Lynch H, Burn J, Moslein G, Fodde R. Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Genes Chromosomes and Cancer 2005, 44(2), 123-138.
• Jarvis S, Elliott DJ, Morgan D, Winston R, Readhead C. Molecular markers for the assessment of postnatal male germ cell development in the mouse. Human Reproduction 2005, 20(1), 108-116.
• Lindsay S, Copp AJ. MRC-Wellcome Trust Human Developmental Biology Resource: Enabling studies of human developmental gene expression. Trends in Genetics 2005, 21(11), 586-590.
• Howell N, Elson JL, Chinnery PF, Turnbull DM. mtDNA mutations and common neurodegenerative disorders. Trends in Genetics 2005, 21(11), 583-586.
• Cotterill SL, Jackson GC, Leighton MR, Wagener R, Makitie O, Cole WG, Briggs MD. Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. Human Mutation 2005, 26(6), 557-565.
• Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Saenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscular Disorders 2005, 15(2), 164-171.
• Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, Bonnemann C, Flanigan K, Lapini I, Bushby K, Pepe G, Muntoni F. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscular Disorders 2005, 15(4), 303-310.
• Kavanagh D, Kemp EJ, Mayland E, Winney RJ, Duffield JS, Warwick G, Richards A, Ward R, Goodship JA, Goodship THJ. Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome. Journal of the American Society of Nephrology 2005, 16(7), 2150-2155.
• Bitoun M, Maugenre S, Jeannet PY, Lacene E, Ferrer X, Laforet P, Martin JJ, Laporte J, Lochmuller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nature Genetics 2005, 37(11), 1207-1209.
• Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Nature Genetics 2005, 37(12), 1312-1314.
• Jakkula E, Makitie O, Czarny-Ratajczak M, Jackson GC, Damignani R, Susic M, Briggs MD, Cole WG, Ala-Kokko L. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. European Journal of Human Genetics 2005, 13(10), 1166-1166.
• Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nature Genetics 2005, 37(3), 282-288.
• Stewart R, Lako M, Horrocks GM, Przyborski SA. Neural development by transplanted human embryonal carcinoma stem cells expressing green fluorescent protein. Cell Transplantation 2005, 14(6), 339-351.
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• Johnson GJ, Cosnes J, Mansfield JC. Review article: smoking cessation as primary therapy to modify the course of Crohn's disease. Alimentary Pharmacology and Therapeutics 2005, 21(8), 921-931.
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• Raine D, Langley P, Murray A, Furniss SS, Bourke JP. Surface atrial frequency analysis in patients with atrial fibrillation: Assessing the effect of two standard linear ablation lesions sited in the left atrium. In: Heart: Annual Conference of G-MEX/MICC. 2005, Manchester, UK: BMJ Group.
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• Ahmad S, Armstrong L, Stojkovic M, Dimmick I, Hyslop LA, Stojkovic P, Strachan T, Figueiredo FC, Lako M. The identification and characterisation of human corneal epithelial progenitors on the basis of high aldehyde dehydrogenase activity. Stem Cells 2005. In Press.
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