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

• Jungbluth H, Beggs A, Bonnemann C, Bushby K, Ceuterick-de Groote C, Estournet-Mathiaud B, Goemans N, Guicheney P, Lescure A, Lunardi J, Muntoni F, Quinlivan R, Sewry C, Straub V, Treves S, Ferreiro A. 111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop 9-11 November 2002, Naarden, The Netherlands. Neuromuscular Disorders 2004,14 11 754-766.
• Wallgren-Pettersson C, Bushby K, Mellies U, Simonds A. 117th ENMC workshop: Ventilatory support in congenital neuromuscular disorders - Congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. Neuromuscular Disorders 2004,14 1 56-69.
• Kerwin JM, Scott MK, Sharpe J, Puelles L, Robson SC, Martínez de la Torre M, Ferran JL, Feng G, Baldock R, Strachan T, Davidson D, Lindsay SJ. 3 dimensional modelling of early human brain development using optical projection tomography. BMC Neuroscience 2004, 5, 27.
• Habib MS, Hunter A, Steel DH. A comparative study of qualitative stereoscopic viewing and quantitative mapping of diabetic macular edema using polarized shutter goggles versus the autostereoscopic screen display. In: Annual Meeting of the Association for Research in Vision and Ophthalmology. 2004, Ft Lauderdale, FL: Investigative Ophthalmology & Visual Science: Association for Research in Vision and Ophthalmology.
• Tonkin ET, Smith M, Eichhorn P, Jones S, Imamwerdi B, Lindsay S, Jackson M, Wang T-J, Ireland M, Burn J, Krantz ID, Carr P, Strachan T. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Human Genetics 2004,115 2 139-148.
• Brinkmann D, Ryan A, Ayhan A, McCluggage WG, Feakins R, Santibanez Koref MF, Mein CA, Gayther SA, Jacobs IJ. A Molecular Genetic and Statistical Approach for the Diagnosis of Dual-Site Cancers. Journal of the National Cancer Institute 2004,96 19 1441-1446.
• Silveira L, Tanriverdi F, MacColl G, Ball SG, Bouloux P-MG, de Marco LA, Quinton R. A novel nonsense mutation of the KAL1 gene in a family with Kallmann. In: 12th International Congress of Endocrinology. 2004, Lisbon.
• McFarland R, Taylor RW, Chinnery PF, Howell N, Turnbull DM. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromuscular Disorders 2004,14 2 162-166.
• Eley L, Turnpenny L, Yates LM, Craighead AS, Morgan D, Whistler C, Goodship JA, Strachan T. A perspective on inversin. 2004;28(2):119-24.. Cell Biology International 2004,28 2 119-24.
• Rovio AT, Abel J, Ahola AL, Andres AM, Bertranpetit J, Blancher A, Bontrop RE, Chemnick LG, Cooke HJ, Cummins JM, Davis HA, Elliott DJ, Fritsche E, Hargreave TB, Hoffman SMG, Jequier AM, Kao S-H, Kim H-S, Marchington DR, Mehmet D, Otting N, Poulton J, Ryder OA, Schuppe H-C, Takenaka O, Wei Y-H, Wichmann L, Jacobs HT. A prevalent POLG CAG microsatellite length allele in humans and African great apes. Mammalian Genome 2004,15 6 492-502.
• Armstrong L, Lako M, Herpe Van, Saretzki IG, Hole N. A role for nucleoprotein Zap3 in the reduction of telomerase activity during embryonic stem cell differentiation. Mechanisms of Development 2004, 121(12), 1509-22.
• Armstrong L, Lako M, van Herpe I, Evans J, Saretzki G, Hole N. A role for nucleoprotein Zap3 in the reduction of telomerase activity during embryonic stem cell differentiation. Mechanisms of Development 2004,121 12 1509-1522.
• Lodi R, Rajagopalan B, Blamire AM, Crilley JG, Styles P, Chinnery PF. Abnormal cardiac energetics in patients carrying the A3243G mtDNA mutation measured in vivo using phosphorus MR spectroscopy. Biochimica et Biophysica Acta: Bioenergetics 2004, 1657(2-3), 146-150.
• Brown K, Rodgers J, Johnstone H, Adams W, Clarke M, Gibson M, Cheetham T. Abnormal cognitive function in treated congenital hypopituitarism. Archives of Disease in Childhood 2004,89 9 827-830.
• Brown SC, Torelli S, Brockington M, Yuva Y, Jimenez C, Feng L, Anderson L, Ugo I, Kroger S, Bushby K, Voit T, Sewry C, Muntoni F. Abnormalities in alpha-Dystroglycan Expression in MDC1C and LGMD21 Muscular Dystrophies. American Journal of Pathology 2004,164 2 727-737.
• Amthor H, Egelhof T, McKinnell I, Ladd ME, Janssen I, Weber J, Sinn H, Schrenk HH, Forsting M, Voit T, Straub V. Albumin targeting of damaged muscle fibres in the mdx mouse can be monitored by MRI. Neuromuscular Disorders 2004,14 12 791-796.
• Deschauer M, Hudson G, Taylor R, Muller T, Chinnery P, Zierz S. Analysis of the ANT1 gene in progressive external ophthalmoplegia with multiple mtDNA deletions: identification of a novel mutation. In: BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS. 2004, Nijmegen, The Netherlands: Biochimica et Biophysica Acta - Bioenergetics: Elsevier BV.
• Velaga R, Jennings C, Wilson V, Owen C, Pearce SHS, Quinton R. Analysis of the gonadotropin-releasing hormone gene in patients with idiopathic hypogonadotrophic hypogonadism. In: 12th International Congress of Endocrinology. 2004, Lisbon, Portugal.
• Ressiniotis T, Griffiths PG, Birch M, Keers SM, Chinnery PF. Apolipoprotein E promoter polymorphisms do not have a major influence on the risk of developing primary open angle glaucoma. Molecular Vision 2004,10 805-807.
• Quinton R, Cheetham T. Aromatase inhibition in an adolescent male with gynaecomastia: Hyperactivation of the reproductive axis without compromise of final height. In: 12th International Congress of Endocrinology. 2004, Lisbon, Portugal: ICE Publishing.
• Olie KH, Florquin S, Groothoff JW, Verlaak R, Strain L, Goodship THJ, Weening JJ, Davin J-C. Atypical relapse of hemolytic uremic syndrome after transplantation. Pediatric Nephrology 2004,19 10 1173-1176.
• Warren NM, Piggott MA, Greally E, Lake M, Kilford L, Lees AJ, Burn DJ. Basal ganglia cholinergic and dopaminergic function in progressive supranuclear palsy. In: Journal of Neurology, Neurosurgery and Psychiatry: Spring Meeting of the Association of British Neurologists. 2004, London, UK: BMJ Group.
• Lampe AK, Muntoni F, Bonnemann C, Flanigan KM, Swoboda K, Jimenez-Mallebrera C, Laval S, Weiss RB, Bushby K. Bethlem and Ullrich patients with splice site mutations in COL6A1, 2 and 3. In: 9th International Congress of the World Muscle Society. 2004, Goteborg, Sweden: Neuromuscular Disorders: Pergamon.
• Cordell HJ. Bias toward the Null Hypothesis in Model-Free Linkage Analysis is Highly Dependent on the Test Statistic Used. American Journal of Human Genetics 2004,74 6 1294-1302.
• Hyslop LA, Nixon VL, Levasseur M, Chapman F, Chiba K, McDougall A, Venables JP, Elliott DJ, Jones KT. Ca²⁺-promoted cyclin B1 degradation in mouse oocytes requires the establishment of a metaphase arrest. Developmental Biology 2004,269 1 206-219.
• Sayer JA, Carr G, Simmons NL. Calcium phosphate and calcium oxalate crystal handling is dependent upon CLC-5 expression in mouse collecting duct cells. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2004,1689 1 83-90.
• Poppe M, Bourke J, Eagle M, Frosk P, Wrogemann K, Greenberg C, Muntoni F, Voit T, Straub V, Hilton-Jones D, Shirodaria C, Bushby K. Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Annals of Neurology 2004,56 5 738-741.
• Cordell HJ, Barratt BJ, Clayton DG. Case/Pseudocontrol Analysis in Genetic Association Studies: A Unified Framework for Detection of Genotype and Haplotype Associations, Gene-Gene and Gene-Environment Interactions, and Parent-of-Origin Effects. Genetic Epidemiology 2004,26 3 167-185.
• Meeson AP, Hawke TJ, Graham S, Jiang N, Elterman J, Hutcheson K, DiMaio J. Michael, Gallardo TD, Garry DJ. Cellular and Molecular Regulation of Skeletal Muscle Side Population Cells. Stem Cells 2004,22 7 1305-1320.
• Filler G, Radhakrishnan S, Strain L, Hill A, Knoll G, Goodship TH. Challenges in the management if infantile factor H associated hemolytic uremic syndrome. Pediatric Nephrology 2004,19 8 908-911.
• Foxton RM, Laval SH, Bushby KMD. Characterisation of the dysferlin skeletal muscle promoter. European Journal of Human Genetics 2004,12 2 127-131.
• MacIntyre E, Neely D, Aspray T, Quinton R. Chronic, severe osteomalacia with hypocalcaemia: I. Standard doses of Vitamin D replacement may be inadequate. II. Plasma PTH level is a sensitive and reliable marker of treatment response. In: 12th International Congress of Endocrinology Poster Presentation: Series A, Calcium Bone. 2004, Lisbon, Portugal.
• Bamforth SD, Braganca J, Farthing CR, Schneider JE, Broadbent C, Michell AC, Clarke K, Neubauer S, Norris D, Brown NA, Anderson RH, Bhattacharya S. Cited2 controls left-right patterning and heart development through a Nodal-Pitx2c pathway. Nature Genetics 2004, 36(11), 1189-1196.
• Hudson CD, Podesta J, Henderson D, Latchman DS, Budhram-Mahadeo V. Coexpression of Brn-3a POU protein with p53 in a population of neuronal progenitor cells is associated with differentiation and protection against apoptosis. Journal of Neuroscience Research 2004,78 6 803-814.
• Keavney B. Commentary: Katan's remarkable foresight: Genes and causality 18 years on. International Journal of Epidemiology 2004,33 1 11-14.
• Mandal K, Dodds SG, Hildreth A, Fraser SG, Steel DHW. Comparative study of first-day postoperative cataract review methods. Journal of Cataract and Refractive Surgery 2004, 30(9), 1966-1971.
• Carroll PV, Drake WM, Maher KT, Metcalfe K, Shaw NJ, Dunger DB, Cheetham TD, Camacho-Hubner C, Savage MO, Monson JP. Comparison of continuation or cessation of growth hormone (GH) therapy on body composition and metabolic status in adolescents with severe GH deficiency at completion of linear growth. Journal of Clinical Endocrinology and Metabolism 2004,89 8 3890-3895.
• Mercuri E, Lampe A, Straub V, Yuva Y, Longman C, Wright M, Brown S, Sewry C, Bonnemann C, Kinali M, Brockington M, Hausser I, Jones DH, Voit T, Bushby K, Muntoni F. Congenital muscular dystrophy with short stature, proximal contractures and distal laxity. Neuropediatrics 2004,35 4 224-229.
• Durham S, Keers S, Chinnery P. Correlation of mitochondrial copy number with cytochrome c oxidase histochemistry. In: Biochimica et Biophysica Acta: Bioenergetics. 6th European Meeting on Mitochondrial Pathology (Euromit 6). 2004, Nijmegen, Netherlands: Elsevier BV.
• Carvalho RLC, Jonker L, Goumans M-J, Larsson J, Bouwman P, Karlsson S, ten Dijke P, Arthur HM, Mummery CL. Defective paracrine signalling by TGFβ in yolk sac vasculature of endoglin mutant mice: A paradigm for hereditary haemorrhagic telangiectasia. Development 2004,131 24 6237-6247.
• Choudhary MK, Haimes E, Herbert M, Stojkovic M, Murdoch AP. Demographic, medical and treatment characteristics associated with couples' decisions to donate fresh spare embryos for research. Human Reproduction 2004, 19(9), 2091-2096.
• Stojkovic M, Lako M, Stojkovic P, Stewart R, Przyborski S, Armstrong L, Evans J, Herbert M, Hyslop L, Ahmad S, Murdoch A, Strachan T. Derivation of human embryonic stem cells from day-8 blastocysts recovered after three-step in vitro culture. Stem Cells 2004, 22(5), 790-797.
• Stojkovic M, Lako M, Strachan T, Murdoch A. Derivation, growth and applications of human embryonic stem cells. Reproduction 2004. ,128 3 259-267.
• McMillan CV, Bradley C, Woodcock A, Razvi S, Weaver JU. Design of new questionnaires to measure quality of life and treatment satisfaction in hypothyroidism. Thyroid 2004,14 11 916-925.
• Moore I, Ahmed S, Sayer JA, Ward MK. Digital ischaemia in a renal transplant patient. Nephrology Dialysis Transplantation 2004, 19(6), 1656-1657.
• Relton CL, Daniel CP, Hammal DM, Parker L, Tawn EJ, Burn J. DNA repair gene polymorphisms, pre-natal factors and the frequency of somatic mutations in the glycophorin-A gene among healthy newborns. Mutation Research: Fundamental and Molecular Mechanisms of Mutagenesis 2004, 545(1-2), 49-57.
• Relton CL, Daniel CP, Hammal DM, Parker L, Tawn EJ, Burn J. DNA repair gene polymorphisms, pre-natal factors and the frequency of somatic mutations in the glycophorin-A gene among healthy newborns. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2004, 545(1-2), 49-57.
• Lebrin F, Goumans M-J, Jonker L, Carvalho RLC, Valdimarsdottir G, Thorikay M, Mummery C, Arthur HM, Ten Dijke P. Endoglin promotes endothelial cell proliferation and TGF-β/ALK1 signal transduction. EMBO Journal 2004,23 20 4018-4028.
• Eagle M, Manzur A, Straub V, Bushby K. Experience of applying the UK consensus on the use of corticosteroids in DMD. In: Neuromuscular Disorders: 9th International Congress of the World Muscle Society. 2004, Goteborg, Sweden: Elsevier Ltd.
• Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, Bourke J, Richard P, Sewry C, Pike M, Bonne G, Muntoni F, Bushby K. Extreme Variability of Phenotype in Patients with an Identical Missense Mutation in the Lamin A/C Gene: From Congenital Onset with Severe Phenotype to Milder Classic Emery-Dreifuss Variant. Archives of Neurology 2004,61 5 690-694.
• Molnar MJ, Gilbert R, Lu Y, Liu AB, Guo A, Larochelle N, Orlopp K, Lochmuller H, Petrof BJ, Nalbantoglu J, Karpati G. Factors influencing the efficacy, longevity, and safety of electroporation-assisted plasmid-based gene transfer into mouse muscles. Molecular Therapy 2004, 10(3), 447-455.
• Pirson Y, Lefebvrek C, Lambert C, Warwicker P, Goodship THJ. Familial hemolytic uremic syndrome: a privileged observation. Bulletin et Memoires de le Academie Royale de Medecine de Belgique 2004,159 2 191-194.
• McFarland R, Schaefer AM, Gardner JL, Lynn S, Hayes CM, Barron MJ, Walker M, Chinnery PF, Taylor RW, Turnbull DM. Familial Myopathy: New Insights into the T14709C Mitochondrial tRNA Mutation. Annals of Neurology 2004, 55(4), 478-484.
• Wheeler JG, Keavney BD, Watkins H, Collins R, Danesh J. Four paraoxonase gene polymorphisms in 11 212 cases of coronary heart disease and 12 786 controls: Meta-analysis of 43 studies. The Lancet 2004,363 9410 689-695.
• Ahmad S, Hyslop LA, Jahoda CA, Strachan T, Lako M, Figueiredo FC. From embryo to eye - Human embryonic stem cell markers OCT-4 and NANOG are localised to adult limbal epithelium. In: Investigative Ophthalmology & Visual Science: Annual Meeting of the Association for Research in Vision and Ophthalmology. 2004, Ft Lauderdale, Florida, USA: Association for Research in Vision and Ophthalmology.
• Poppe M, Laval SH, Pocock N, Wappler I, Cree LM, Haldane F, Peters H, Straub V, Bittner RE, Bushby KMD. Gene expression profiling in dysferlin-deficient marine muscle: differential gene expression in proximal and distal muscle groups. In: Neuromuscular Disorders: 9th International Congress of the World Muscle Society. 2004, Goteborg, Sweden: Elsevier Ltd.
• Relton CL, Wilding CS, Pearce MS, Laffling AJ, Jonas PA, Lynch SA, Tawn EJ, Burn J. Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population. Journal of Medical Genetics 2004, 41(4), 256-260.
• Chinnery PF, Cartlidge NEF, Tennant S, Birchall D, Stenhouse SAR. Genetics in reverse. The Lancet 2004,363 9405 290-290.
• Johnstone HC, Cheetham TD. GH and cortisol response to glucagon administration in short children. Hormone Research 2004,62 1 27-32.
• Lindsay S, Scott M, Sarma S, Woods H, Crosier M, Lisgo S, Kerwin J, Strachan T, Robson SC. Human developmental gene expression: an important link between disorder and understanding. In: Journal of Medical Genetics: British Human Genetics Conference. 2004, York, UK: BMJ Group.
• Stewart R, Coyne L, Lako M, Halliwell RF, Przyborski SA. Human embryonal carcinoma stem cells expressing green fluorescent protein form functioning neurons in vitro: A research tool for co-culture studies. Stem Cells and Development 2004, 13(6), 646-657.
• Khawaja K, Houlsby WT, Watson S, Bushby K, Cheetham T. Hypercalcaemia in infancy; A presenting feature of spinal muscular atrophy. Archives of Disease in Childhood 2004,89 4 384-385.
• Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship JA. Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. Journal of Medical Genetics 2004,41 3 183-186.
• Schneider JE, Bose J, Bamforth SD, Gruber AD, Broadbent C, Clarke K, Neubauer S, Lengeling A, Bhattacharya S. Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique. BMC Developmental Biology 2004,4 1 16.
• Bown N, Powell H, Curtis A, Taylor P. Incidence and clinical significance of FLT3 internal tandem duplications in acute myeloid leukaemia.. In: Journal of Medical Genetics: British Human Genetics Conference. 2004, York, UK: BMJ Group.
• Tennant S, Strain L, Curtis A. Incidence of deletion and duplication mutations in HNPCC patients in the NE of England. In: Journal of Medical Genetics: British Human Genetics Conference. 2004, York, UK: BMJ Group.
• Chinnery PF, Keers SM, Holden MJ, Ramesh V, Dalton A. Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene. Neurology 2004,63 4 710-712.
• Goodship THJ. Inherited dysregulation of the complement system. Bulletin et Memoires de le Academie Royale de Medecine de Belgique 2004,159 2 195-198.
• Birrell G, Cheetham T. Juvenile thyrotoxicosis; can we do better?. Archives of Disease in Childhood 2004. ,89 8 745-750.
• Jiang SS, Gitlin J, Deng FM, Liang FX, Lee A, Atala A, Bauer SB, Ehrlich GD, Feather SA, Goldberg JD, Goodship JA, Goodship THJ, Hermanns M, Hu FZ, Jones KE, Malcolm S, Mendelsohn C, Preston RA, Retik AB, Schneck FX, Wright V, Ye XY, Woolf AS, Wu XR, Ostrer H, Shapiro E, Yu J, Sun TT. Lack of major involvement of human uroplakin genes in vesicoureteral reflux: Implications for disease heterogeneity. Kidney International 2004, 66(1), 10-19.
• Crossland DS, Jackson SP, Lyall R, Hamilton JRL, Hasan A, Burn J, O'Sullivan JJ. Life insurance and mortgage application in adults with congenital heart disease. European Journal of Cardio-Thoracic Surgery 2004, 25(6), 931-934.
• Laval SH, Bushby KMD. Limb-girdle muscular dystrophies - From genetics to molecular pathology. Neuropathology and Applied Neurobiology 2004,30 2 91-105.
• Chinnery PF, Cottrell DA, Birchall D, Griffiths TD. Limbic encephalitis: Not a picture to forget. Neurology 2004,62 6 1019-1019.
• Keavney B, Palmer A, Parish S, Clark S, Youngman L, Danesh J, McKenzie C, Delepine M, Lathrop M, Peto R, Collins R. Lipid-related genes and myocardial infarction in 4685 cases and 3460 controls: Discrepancies between genotype, blood lipid concentrations, and coronary disease risk. International Journal of Epidemiology 2004,33 5 1002-1013.
• James RJA, Drewett RF, Cheetham TD. Low cord ghrelin levels in term infants are associated with slow weight gain over the first 3 months of life. Journal of Clinical Endocrinology and Metabolism 2004,89 8 3847-3850.
• Relton CL, Wilding CS, Laffling AJ, Jonas PA, Burgess T, Binks K, Tawn EJ, Burn J. Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy. Molecular Genetics and Metabolism 2004,81 4 273-281.
• Razvi S, Basu A, McIntyre EA, Wahid ST, Bartholomew PH, Weaver JU. Low failure rate of fixed dose 400 MBq131I with pre-treatment with Carbimazole for thyrotoxicosis; The Gateshead protocol. Nuclear Medicine Communications 2004, 25(7), 675-682.
• Mirzaa G, Dodge NN, Glass I, Day C, Gripp K, Nicholson L, Straub V, Voit T, Dobyns WB. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. Neuropediatrics 2004, 35(6), 353-359.
• Schaefer A, Blakely E, Hayes C, McFarland R, Chinnery P, Taylor R, Turnbull D. Mitochondrial disease: new prevalence figures with major resource implications. In: Biochimica et Biophysica Acta: Bioenergetics. 6th European Meeting on Mitochondrial Pathology (Euromit 6). 2004, Nijmegen, Netherlands: Elsevier BV.
• Blakely EL, He LP, Taylor RW, Chinnery PF, Lightowlers RN, Schaefer AM, Turnbull DM. Mitochondrial DNA deletion in "identical" twin brothers. Journal of Medical Genetics 2004, 41(2), e19.
• Blakely EL, He L, Taylor RW, Chinnery PF, Lightowlers RN, Schaefer AM, Turnbull DM. Mitochondrial DNA deletion in identical twins. Journal of Medical Genetics 2004, 41(2), e19.
• Yu Wai Man P, Howell N, Mackey DA, Nørby S, Rosenberg T, Turnbull DM, Chinnery PF. Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees. Journal of Medical Genetics 2004. , 41(4), e41-e41.
• Pyle A, Tiangyou W, Keers S, Lambert C, Burn D, Foltynie T, Barker R, Chinnery P. Mitochondrial DNA variation and Parkinson disease. In: Biochimica et Biophysica Acta: Bioenergetics. 6th European Meeting on Mitochondrial Pathology (Euromit 6). 2004, Nijmegen, Netherlands: Elsevier BV.
• Liszewski MK, Schraml B, Leung M, Caudy AA, Kemp EJ, Goodship THJ, Atkinson JP. Modeling how deficiency of membrane cofactor protein (MCP; CD46) predisposes to atypical hemolytic uremic syndrome. In: Molecular Immunology: 20th International Complement Workshop. 2004, Honolulu, Hawaii, USA: Pergamon.
• Craig K, Keers SM, Archibald K, Curtis A, Chinnery PF. Molecular Epidemiology of Spinocerebellar Ataxia Type 6. Annals of Neurology 2004,55 5 752-755.
• Schoser BG, Schneider-Gold C, Kress W, Goebel HH, Reilich P, Koch MC, Pongratz DE, Toyka KV, Lochmuller H, Ricker K. Muscle pathology in 57 patients with myotonic dystrophy type 2. Muscle & Nerve 2004, 29(2), 275-281.
• Kutzick C, Herrmann R, Straub V, Steinbrecher A, Cirak S, Korenke C, Guicheney P, Schara U, Wrogemann K, Muntoni F, Faurholt-Pedersen V, Wewer U, Voit T. Muscle-eye-brain disease due to homozygous founder mutation in FKRP in Northern Germany and Denmark. In: Neuromuscular Disorders: 9th International Congress of the World Muscle Society. 2004, Goteborg, Sweden: Elsevier Ltd.
• Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmuller H, Tordai A, Kalmar L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Venkataraman V, Warwick Carter K, Reeve J, de Pablo R, Kucinskas V, Kalaydjieva L. Mutation history of the roma/gypsies. American Journal of Human Genetics 2004,75 4 596-609.
• Goodship THJ, Liszewski MK, Kemp EJ, Richards A, Atkinson JP. Mutations in CD46, a complement regulatory protein, predispose to atypical HUS. Trends in Molecular Medicine 2004,10 5 226-231.
• Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. Journal of Medical Genetics 2004. , 41(5), e61.
• Berrington A, Borriello SP, Brazier J, Duckworth G, Foster K, Freeman R, Gould FK, Henderson J, Hollyoak V, Spencer R, Taylor J, Wilcox M. National Clostridium difficile standards group: Report to the department of health. Journal of Hospital Infection 2004. , 56(s1), 1-38.
• Waller S, Kurzawinski T, Spitz L, Thakker R, Cranston T, Pearce S, Cheetham T, van't Hoff WG. Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy. European Journal of Pediatrics 2004,163 10 589-594.
• Chinnery PF. New approaches to the treatment of mitochondrial disorders. Reproductive BioMedicine Online 2004,8 1 16-23.
• Figueiredo FC, Hodge R, Figueiredo MS, Johnson R. Newcastle corneal transplant registry: Five-year clinical outcomes. In: Investigative Ophthalmology & Visual Science: Annual Meeting of the Association for Research in Vision and Ophthalmology. 2004, Ft Lauderdale, Florida, USA: Association for Research in Vision and Ophthalmology.
• Tonkin ET, Wang T-J, Lisgo S, Bamshad MJ, Strachan T. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nature Genetics 2004,36 6 636-641.
• Deschauer M, Chinnery PF, Schaefer AM, Turnbull DM, Taylor RW, Zierz S, Shanske S, DiMauro S, Mojamaa K, Wilichowski E, Thorburn DR. No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation. Journal of Neurology, Neurosurgery and Psychiatry 2004,75 8 1204-1205.
• Gibson AM, Edwardson JA, Turnbull DM, McKeith IG, Morris CM, Chinnery PF. No evidence of an association between the T16189C mtDNA variant and late onset dementia. Journal of Medical Genetics 2004, 41(1), e7.
• McDonnell MT, Schaefer AM, Blakely EL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. Nonivasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells. European Journal of Human Genetics 2004,12 9 778-781.
• Jimenez-Mallebrera C, Maioli M, Feng L, Brown SC, Lampe AK, Bushby K, Flanigan K, Weiss B, Bonnemann C, Mercuri E, Torelli S, Sewry CA, Muntoni F. Normal collagen VI immunolabelling in Ullrich congenital muscular dystrophy with COL6 mutations. In: Neuromuscular Disorders: 9th International Congress of the World Muscle Society. 2004, Goteborg, Sweden: Elsevier Ltd.
• Crompton DE, Griffiths TD. Not a laughing matter. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2004.
• Mullner-Eidenbock A, Moser E, Klebermass N, Amon M, Walter MC, Lochmuller H, Gooding R, Kalaydjieva L. Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome. Ophthalmology 2004, 111(7), 1415-1423.
• Moore I, Sayer JA, Nayar A, Ahmed S, Tapson JS. Pantoprazole-induced acute interstitial nephritis. Journal of Nephrology 2004,17 4 580-581.
• Wheeler J, Keavney B, Watkins H, Collins R, Danesh J. Paraoxonase polymorphisms and coronary heart disease - Reply. Lancet 2004. , 364(9434), 580-580.
• Jonker L, Kist R, Aw A, Wappler I, Peters H. Pax9 is required for filiform papilla development and suppresses skin-specific differentiation of the mammalian tongue epithelium. Mechanisms of Development 2004, 121(11), 1313-1322.
• Martin CM, Meeson AP, Robertson SC, Hawke TJ, Richardson JA, Bates S, Goetsch SC, Gallardo TD, Garry DJ. Persistent expression of the ATP-binding cassette transporter, Abcg2, identifies cardiac SP cells in the developing and adult heart. Developmental Biology 2004,265 1 262-275.
• Armstrong L, Stojkovic M, Dimmick I, Ahmad S, Stojkovic P, Hole N, Lako M. Phenotypic characterization of murine primitive hematopoietic progenitor cells isolated on basis of aldehyde dehydrogenase activity. Stem Cells 2004,22 7 1142-1151.
• Carrara F, Chinnery PF, Yu Wai Man P, Zeviani M, Tiranti V. Pitfalls in restriction fragment length polymorphism analysis of Leber's hereditary optic neuropathy patients. Mitochondrion 2004, 4(1), 37-39.
• Sibal L, Ball SG, Connolly V, James RA, Kane P, Kelly WF, Kendall-Taylor P, Mathias D, Perros P, Quinton R, Vaidya B. Pituitary apoplexy: A review of clinical presentation, management and outcome in 45 cases. Pituitary 2004, 7(3), 157-163.
• Sieber-Blum M, Grim M, Hu YF, Szeder V. Pluripotent Neural Crest Stem Cells in the Adult Hair Follicle. Developmental Dynamics 2004,231 2 258-269.
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