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, Muntoni F, Ferreiro A, Core Myopathy Consortium. 150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands. Neuromuscular Disorders 2008, 18(12), 989-996.
• Chinnery PF, Zeviani M. 155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands. Neuromuscular Disorders 2008, 18(3), 259-267.
• Sárközy A, Bushby KMD, Béroud C, Lochmüller HKM. 157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands. Neuromuscular Disorders 2008, 18(12), 997-1001.
• Barber JCK, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. European Journal of Human Genetics 2008, 16(1), 18-27.
• Stewart JD, Hudson G, Yu Wai Man P, Blakeley EL, He L, Horvath R, Maddison P, Wright A, Griffiths PG, Turnbull DM, Taylor RW, Chinnery PF. OPA1 in multiple mitochondrial DNA deletion disorders. Neurology 2008,71 22 1829-1831.
• Greenall A, Lei GY, Swan DC, James K, Wang LM, Peters H, Wipat A, Wilkinson DJ, Lydall D. A genome wide analysis of the response to uncapped telomeres in budding yeast reveals a novel role for the NAD(+) biosynthetic gene BNA2 in chromosome end protection. Genome Biology 2008, 9(10), R146.
• Yang C, Przyborski S, Cooke MJ, Zhang X, Stewart R, Anyfantis G, Atkinson SP, Saretzki GC, Armstrong L, Lako M. A key role for telomerase reverse transcriptase unit in modulating human embryonic stem cell proliferation, cell cycle dynamics, and in vitro differentiation. Stem Cells 2008, 26(4), 850-863.
• Bayatti N, Moss JA, Sun L, Ambrose P, Ward JFH, Lindsay S, Clowry GJ. A molecular neuroanatomical study of the developing human neocortex from 8 to 17 postconceptional weeks revealing the early differentiation of the subplate and subventricular zone. Cerebral Cortex 2008, 18(7), 1536-1548.
• Blom AM, Bergstrom F, Edey MMJ, Diaz-Torres M, Kavanagh DG, Lampe AK, Goodship JA, Strain L, Moghal N, McHugh M, Inward C, Tomson C, Frémeaux-Bacchi V, Villoutreix BO, Goodship THJ. A novel non-synonymous polymorphism (p.Arg240His) in C4b-Binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity. Journal of Immunology 2008,180 9 6385-6391.
• Wagner KR, Fleckenstein JL, Amato AA, Barohn RJ, Bushby K, Escolar DM, Flanigan KM, Pestronk A, Tawil R, Wolfe GI, Eagle M, Florence JM, King WM, Pandya S, Straub V, Juneau P, Meyers K, Csimma C, Araujo T, Allen R, Parsons SA, Wozney JM, Lavallie ER, Mendell JR. A phase I/II trial of MYO-029 in adult subjects with muscular dystrophy. Annals of Neurology 2008, 63(5), 561-71.
• Ahmad S, Kolli S, Li DQ, de Paiva CS, Pryzborski S, Dimmick I, Armstrong L, Figueiredo FC, Lako M. A putative role for RHAMM/HMMR as a negative marker of stem cell-containing population of human limbal epithelial cells. Stem Cells 2008, 26(6), 1609-1619.
• Cree L, Samuels D, De Sousa Lopes S, Rajasimha H, Wonnapinij P, Mann J, Dahl H, Chinnery P. A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes. Nature Genetics 2008, 40(2), 249-254.
• Hicks D, Lampe AK, Barresi R, Charlton RG, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmüller HKM, Straub VW, Bushby KMD. A refined diagnostic algorithm for Bethlem myopathy. Neurology 2008, 70(14), 1192-1199.
• Maimets T, Neganova I, Armstrong L, Lako M. Activation of p53 by nutlin leads to rapid differentiation of human embryonic stem cells. Oncogene 2008, 27(40), 5277-5287.
• Cree L, Patel S, Pyle A, Lynn S, Turnbull DM, Chinnery PF, Walker M. Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets. Diabetologia 2008, 51(8), 1440-1443.
• Palomino-Doza J, Rahman TJ, Avery PJ, Mayosi BM, Farrall M, Watkins H, Edwards CRW, Keavney BD. Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes. Hypertension 2008, 52(5), 980-985.
• Kent L, Gallagher L, Elliott HR, Mowbray C, Chinnery PF. An investigation of mitochondrial haplogroups in autism. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics 2008, 147B(6), 987-989.
• Kent L, Gallagher L, Elliott HR, Mowbray C, Chinnery PF. An investigation of mitochondrial haplogroups in autism. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics 2008, 147(6), 987-989.
• Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Loscher WN, Wagner K, Lochmuller H, Vincent JB, Quasthoff S. An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1. American Journal of Human Genetics 2008, 82(1), 88-99.
• Habib M, Lowell J, Holliman N, Hunter A, Vaideanu D, Hildreth A, Steel D. Assessment of stereoscopic optic disc images using an autostereoscopic screen - Experimental study. BMC Ophthalmology 2008, 8(13), 7.
• Crosbie PAJ, McGown G, Thorncroft MR, O'Donnell PNS, Barber PV, Lewis SJ, Harrison KL, Agius RM, Santibanez-Koref MF, Margison GP, Povey AC. Association between lung cancer risk and single nucleotide polymorphisms in the first intron and codon 178 of the DNA repair gene, O6- alkylguanine-DNA alkyltransferase. International Journal of Cancer 2008, 122(4), 791-795.
• Edey MM, Mead PA, Saunders RE, Strain L, Perkins SJ, Goodship THJ, Kanagasundaram NS. Association of a Factor H Mutation With Hemolytic Uremic Syndrome Following a Diarrheal Illness. American Journal of Kidney Diseases 2008, 51(3), 487-490.
• Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Annals of Neurology 2008, 64(5), 573-82.
• Spyridopoulos I, Fichtlscherer S, Popp R, Toennes SW, Fisslthaler B, Trepels T, Zernecke A, Liehn EA, Weber C, Zeiher AM, Dimmeler S, Haendeler J. Caffeine enhances endothelial repair by an AMPK-dependent mechanism. Arteriosclerosis, Thrombosis, and Vascular Biology 2008, 28(11), 1967-1974.
• Burn J. Can a cell have a soul?. British Medical Journal 2008, 336(7653), 1132.
• Farooqui-Kabir SR, Diss JKJ, Henderson D, Marber MS, Latchman DS, Budhram-Mahadeo V, Heads RJ. Cardiac expression of Brn-3a and Brn-3b POU transcription factors and regulation of Hsp27 gene expression. Cell Stress and Chaperones 2008, 13(3), 297-312.
• Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V. Caveolinopathy - New mutations and additional symptoms. Neuromuscular Disorders 2008, 18(7), 572-578.
• Hildreth V, Webb S, Bradshaw L, Brown NA, Anderson RH, Henderson DJ. Cells migrating from the neural crest contribute to the innervation of the venous pole of the heart. Journal of Anatomy 2008, 212(1), 1-11.
• Noris M, Remuzzi G, Goodship T. Chapter 14 Hemolytic Uremic Syndrome/Thrombotic Thrombocytopenic Purpura. Handbook of Systemic Autoimmune Diseases 2008, 7, 257-282.
• Young G. Chapters Fifty-Nine to Sixty-Two. In: Hardy, K, ed. Coronation Street The Complete Saga: An Epic Novel of Life in 'the Street' from 1960 to the Present Day. London: Carlton Books, 2008, pp.1025-1100.
• Curtis A, Chinnery PF, Batey SJ, Curtis A, Burn J. Characterisation of a novel neuroferritinopathy mutation in a French family. In: British Human Genetics Conference 2008. 2008, University of York, UK: Journal of Medical Genetics: BMJ Group.
• Thomas HE, Redgrave R, Cunnington MS, Avery P, Keavney BD, Arthur HM. Circulating endothelial progenitor cells exhibit diurnal variation. Arteriosclerosis, Thrombosis, and Vascular Biology 2008, 28(3), E21-E22.
• Harling C, Guglieri M, Bell G, Bourke J, McCallum M, Eagle M, Stewart M, Chinnery P, Straub V, Bushby K. Clinical follow up in a large cohort of patients affected by Myotonic Dystrophy type. In: British Human Genetics Conference 2008. 2008, University of York, UK: Journal of Medical Genetics: BMJ Group.
• Strach K, Sommer T, Grohé C, Meyer C, Fischer D, Walter MC, Vorgerd M, Reilich P, Bär H, Reimann J, Reuner U, Germing A, Goebel HH, Lochmüller H, Wintersperger B, Schröder R. Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies. Neuromuscul Disord 2008, 18(6), 475-482.
• Zsurka G, Baron M, Stewart JD, Kornblum C, Bös M, Sassen R, Taylor RW, Elger CE, Chinnery PF, Kunz WS. Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma. Journal of Neuropathology and Experimental Neurology 2008, 67(9), 857-866.
• Clark C, Habib MS, Steel DH. Combined phacoemulsification and transpupillary removal of heavy silicone oil. Journal of Cataract and Refractive Surgery 2008, 34(10), 1640-1643.
• Kavanagh D, Richards A, Atkinson J. Complement regulatory genes and hemolytic uremic syndromes. Annual Review of Medicine 2008, 59(1), 293-309.
• Syed AA, Quinton R. Congenital radioulnar synostosis, azoospermia, and pseudodicentric Y chromosome. Fertility and Sterility 2008, 90(2), 425-426.
• Serre D, Montpetit A, Paré G, Engert J, Yusuf S, Keavney B, Hudson T, Anand S. Correction of population stratification in large multi-ethnic association studies. PLoS ONE 2008, 3(1), e1382.
• Clark EL, Fuller-Pace FV, Elliott DJ, Robson CN. Coupling transcription to RNA processing via the p68 DEAD box RNA helicase androgen receptor co-activator in prostate cancer. Biochemical Society Transactions 2008, 36(3), 546-547.
• Harling C, Guglieria M, Bell G, Bourke J, Mccallum M, Eagle M, Stewart WK, Chinnery P, Straub V, Bushby K. D.P.2.02: Development of a nurse led multidisciplinary clinic for myotonic dystrophy type 1. Neuromuscular Disorders 2008, 18(9-10), 743.
• Harling C, Guglieri M, Bell G, Bourke J, McCallum M, Eagle M, Stewart WK, Chinnery P, Straub V, Bushby K. D.P.2.03: Clinical follow up in a large cohort of patients affected by myotonic dystrophy type 1. Neuromuscular Disorders 2008, 18(9-10), 743-744.
• Falardeau J, Chung WCJ, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, Ma J, Dvfyer A, Quinton R, Na S, Hall JE, Huot C, Alois N, Pearce SHS, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. Journal of Clinical Investigation 2008, 118(8), 2822-2831.
• Harling C, Guglieri M, Bell G, Bourke J, McCallum M, Eagle M, Stewart M, Chinnery P, Straub V, Bushby K. Development of a nurse led multidisciplinary clinic for myotonic dystrophy type 1. In: British Human Genetics Conference 2008. 2008, University of York, UK: Journal of Medical Genetics: BMJ Group.
• Ip BK, Bayatti N, Lindsay S, Clowry GJ. Development of functional regionalization in the human neocortex: preliminary findings of SLIT/ROBO/srGAP differential expression. In: Summer Meeting of the Anatomical Society of Great Britain and Ireland. 2008, Jubilee Campus, University of Nottingham, UK: Journal of Anatomy: Wiley-Blackwell Publishing Ltd..
• Thornhill P, Bassett D, Lochmuller H, Bushby K, Straub V. Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). Brain 2008, 131(6), 1551-1561.
• Hudson G, Mowbray C, Elson J, Jacob A, Boggild M, Torroni A, Chinnery PF. Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?. Brain 2008. , 131(4), e93.
• Saretzki G, Walter T, Atkinson S, Passos JF, Bareth B, Keith WN, Stewart R, Hoare S, Stojkovic M, Armstrong L, Von Zglinicki T, Lako M. Downregulation of multiple stress defense mechanisms during differentiation of human embryonic stem cells. Stem Cells 2008, 26(2), 455-464.
• Stanley L, Coxhead J, Burn J, Curtis A. Early experiences in amplicon sequencing using the Roche GS-FLX massively parallel DNA sequencer and its application within a diagnostic laboratory. In: British Human Genetics Conference 2008. 2008, University of York, UK: Journal of Medical Genetics: BMJ Group.
• Burn J, Bishop DT, Mecklin JP, Macrae F, Moslein G, Olschwang S, Bisgaard ML, Ramesar R, Eccles D, Maher ER, Bertario L, Jarvinen HJ, Lindblom A, Evans DG, Lubinski J, Morrison PJ, Ho JWC, Vasen HFA, Side L, Thomas HJW, Scott RJ, Dunlop M, Barker G, Elliott F, Jass JR, Fodde R, Lynch HT, Mathers JC, CAPP2 Investigators. Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome. New England Journal of Medicine 2008, 359(24), 2567-2578.
• Patek CE, Brownstein DG, Fleming S, Wroe C, Rose L, Webb A, Berry RL, Devenney PS, Walker M, Maddocks ODK, Lawrence NJ, Harrison DJ, Wood KM, Miles CG, Hooper ML. Effects on kidney disease, fertility and development in mice inheriting a protein-truncating Denys-Drash syndrome allele (Wt1 tmT396). Transgenic Research 2008, 17(3), 459-475.
• Yu Wai Man P, Morgan SJ, Hildreth AJ, Steel DH, Allen D. Efficacy of intracameral and subconjunctival cefuroxime in preventing endophthalmitis after cataract surgery. Journal of Cataract and Refractive Surgery 2008, 34(3), 447-451.
• Lapeyraque A-L, Wagner E, Phan V, Clermont M-J, Merouani A, Fremeaux-Bacchi V, Goodship THJ, Robitaille P. Efficacy of plasma therapy in atypical hemolytic uremic syndrome with complement factor H mutations. Pediatric Nephrology 2008, 23(8), 1363-1366.
• Ledran MH, Krassowska A, Armstrong L, Dimmick I, Renstrom J, Lang R, Yung S, Santibanez-Coref M, Dzierzak E, Stojkovic M, Oostendorp RAJ, Forrester L, Lako M. Efficient hematopoietic differentiation of human embryonic stem cells on stromal cells derived from hematopoietic niches. Cell Stem Cell 2008, 3(1), 85-98.
• Simms RJ, Torpey N, Kanagasundaram NS, Baines L, Sayer JA. Emphysematous pyelonephritis leading to end-stage renal failure. NDT Plus 2008, 1(4), 264-265.
• Steel DHW, Habib MS, Park S, Hildreth AJ, Owen RI. Entry site neovascularization and vitreous cavity hemorrhage after diabetic vitrectomy: the predictive value of inner sclerostomy site ultrasonography. Opthalmology 2008, 115(3), 525-532.
• Macdonald ST, Bamforth SD, Chen CM, Farthing CR, Franklyn A, Broadbent C, Schneider JE, Saga Y, Lewandoski M, Bhattacharya S. Epiblastic Cited2 deficiency results in cardiac phenotypic heterogeneity and provides a mechanism for haploinsufficiency. Cardiovascular Research 2008, 79(3), 448-457.
• Sieber-Blum M, Hu Y. Epidermal Neural Crest Stem Cells (EPI-NCSC) and Pluripotency. Stem Cell Reviews 2008, 4(4), 256-260.
• Atkinson SP, Koch CM, Clelland GK, Willcox S, Fowler JC, Stewart R, Lako M, Dunham I, Armstrong L. Epigenetic marking prepares the human HOXA cluster for the activation during differentiation of pluripotent cells. Stem Cells 2008, 26(5), 1174-1185.
• McMillan C, Bradley C, Razvi S, Weaver J. Evaluation of new measures of the impact of hypothyroidism on quality of life and symptoms: The ThyDQoL and ThySRQ. Value in Health 2008, 11(2), 285-294.
• Heuss D, Klascinski J, Schubert SW, Moriabadi T, Lochmüller H, Hashemolhosseini S. Examination of transcript amounts and activity of protein kinase CK2 in muscle lysates of different types of human muscle pathologies. Molecular and Cellular Biochemistry 2008, 316(1-2), 135-140.
• Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang R-Z, Finkel RS, Tennekoon G, Schreiber G, Van Der Knaap MS, Marks H, Straub V, Flanigan KM, Chu M-L, Muntoni F, Bushby KMD, Bonnemann CG. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Human Mutation 2008, 29(6), 809-822.
• Brown SJ, Relton CL, Liao H, Zhao Y, Sandilands A, Wilson IJ, Burn J, Reynolds NJ, McLean WH, Cordell HJ. Filaggrin loss-of-function mutations and childhood atopic eczma: a population-based case-control study. Journal of Allergy and Clinical Immunology 2008, 121(4), 940-946.e3.
• Brown S, Relton C, Liao H, Zhao Y, Sandilands A, Burn J, Cordell H, McLean WHI, Reynolds N. Filaggrin mutations in atopic eczema: genotype-phenotype correlation. In: 88th Annual Meeting of the British Association of Dermatologists. 2008, Liverpool, UK: British Journal of Dermatology: Wiley-Blackwell.
• Brown SJ, Relton CL, Liao H, Zhao Y, Sandilands A, Wilson IJ, Burn J, Reynolds NJ, McLean W, Cordell HJ. Filaggrin null mutations in mild-moderate atopic eczema: a population-based case-control study. In: International Investigative Dermatology Meeting. 2008, Kyoto, Japan: Journal of Investigative Dermatology: Nature Publishing Group.
• Wurtz T, Houari S, Mauro N, MacDougall M, Peters H, Berdal A. Fluoride at non-toxic dose affects odontoblast gene expression in vitro. Toxicology 2008, 249(1), 26-34.
• Gorman G, Fairgrieve S, Birchall D, Chinnery PF. Fragile X premutation presenting as essential tremor. Journal of Neurology, Neurosurgery and Psychiatry 2008. , 79(10), 1195-1196.
• Haug V, Horvath R, Horvath R, Kuehr J, Korinthenberg R, Kirschner J. G.P.3.09: Mutation in PDHA1 gene mimicking a Guillain-Barre-Syndrome. In: Neuromuscular Disorders: 13th International Congress of the World Muscle Society.2008,Newcastle upon Tyne, UK:Elsevier Ltd
• Bulst S, Abicht A, Thirion C, Lochmuller H, Horvath R. G.P.3.13: Supplementation studies in primary human muscle cells with mtDNA depletion caused by mutations in the DGUOK and POLG1 genes. In: Neuromuscular Disorders: 13th International Congress of the World Muscle Society.2008,Newcastle upon Tyne, UK:Elsevier Ltd
• Neganova I, Lako M. G1 to S phase cell cycle transition in somatic and embryonic stem cells. Journal of Anatomy 2008. , 213(1), 30-44.
• Paakkonen V, Bleicher F, Carrouel F, Vuoristo JT, Salo T, Wappler I, Couble ML, Magloire H, Peters H, Tjaderhane L. General expression profiles of human native odontoblasts and pulp-derived cultured odontoblast-like cells are similar but reveal differential neuropeptide expression levels. Archives of Oral Biology 2008, 54(1), 55-62.
• Schafer T, Putz M, Lienkamp S, Ganner A, Bergbreiter A, Ramachandran H, Gieloff V, Gerner M, Mattonet C, Czarnecki PG, Sayer JA, Otto EA, Hildebrandt F, Kramer-Zucker A, Walz G. Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Human Molecular Genetics 2008, 17(23), 3655-3662.
• Cotton RGH, Auerbach AD, Axton M, Barash CI, Berkovic SF, Brookes AJ, Burn J, Cutting G, den Dunnen JT, Flicek P, Freimer N, Greenblatt MS, Howard HJ, Katz M, Macrae FA, Maglott D, Moslein G, Povey S, Ramesar RS, Richards CS, Seminara D, Smith TD, Sobrido M-J, Solbakk JH, Tanzi RE, Tavtigian SV, Taylor GR, Utsunomiya J, Watson M. GENETICS: The Human Variome Project. Science 2008, 322(5903), 861-862.
• Mayosi B, Avery P, Farrall M, Keavney B, Watkins H. Genome-wide linkage analysis of electrocardiographic and echocardiographic left ventricular hypertrophy in families with hypertension. European Heart Journal 2008, 29(4), 525-530.
• Vasen HFA, Moslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bulow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Jarvinen H, Mecklin J-P, Moller P, Myrhoi T, Nagengast FM, Pare Y, Phillips R, Clark SK, Ponz De Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJW, Wijnen J. Guidelines for the clinical management of familial adenomatous polyposis (FAP). In: Gut: Workshop on Hereditary Gastrointestinal Cancer. 2008, Mallorca, Spain: BMJ Group.
• Ehrmann I, Dalgliesh C, Tsaousi A, Paronetto MP, Heinrich B, Kist R, Cairns P, Li W, Mueller C, Jackson M, Peters H, Nayernia K, Saunders P, Mitchell M, Stamm S, Sette C, Elliott DJ. Haploinsufficiency of the germ cell-specific nuclear RNA binding protein hnRNP G-T prevents functional spermatogenesis in the mouse. Human Molecular Genetics 2008, 17(18), 2803-2818.
• Tobin JE, Latourelle JC, Lew MF, Klein C, Suchowersky O, Shill HA, Golbe LI, Mark MH, Growdon JH, Wooten GF, Racette BA, Perlmutter JS, Watts R, Guttman M, Baker KB, Goldwurm S, Pezzoli G, Singer C, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Laramie JM, DeStefano AL, Litvan I, Nicholson G, Corbett A, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Sherman S, Al-Hinti J, Drasby E, Nance M, Moller AT, Ostergaard K, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Haplotypes and gene expression implicate the MAPT region for Parkinson disease - The GenePD Study. Neurology 2008, 71(1), 28-34.
• Langham S, Maggi M, Schulman C, Quinton R, Uhl-Hochgraeber K. Health-Related Quality of Life Instruments in Studies of Adult Men with Testosterone Deficiency Syndrome: A Critical Assessment. Journal of Sexual Medicine 2008, 5(12), 2842-2852.
• Suominen T, Schoser B, Raheem O, Auvinen S, Walter M, Krahe R, Lochmuller H, Kress W, Udd B. High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. Journal of Neurology 2008, 255(11), 1731-1736.
• Moore HC, Wood KM, Jackson MS, Lastowska MA, Hall D, Imrie H, Redfern CPF, Lovat PE, Ponthan FM, O'Toole KT, Lunec J, Tweddle DA. Histological profile of tumours from MYCN transgenic mice. Journal of Clinical Pathology 2008, 61(10), 1098-1103.
• Horvath R, Gorman G, Chinnery PF. How Can We Treat Mitochondrial Encephalomyopathies? Approaches to Therapy. Neurotherapeutics 2008, 5(4), 558-568.
• Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan W-M, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Human CHN1 mutations hyperactivate α2-chimaerin and cause Duane's retraction syndrome. Science 2008, 321(5890), 839-843.
• Waschbisch A, Wintterle S, Lochmüller H, Walter MC, Wischhusen J, Kieseier BC, Wiendl H. Human muscle cells express the costimulatory molecule B7-H3, which modulates muscle-immune interactions.. Arthritis & Rheumatism 2008, 58(11), 3600-8.
• Schwab N, Waschbisch A, Wrobel B, Lochmüller HKM, Sommer C, Wiendl H. Human myoblasts modulate the function of antigen-presenting cells. Journal of Neuroimmunology 2008, 200(1-2), 62-70.
• McNicoll CF, Latourelle JC, MacDonald ME, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Saint-Hilaire MH, Massood T, Huskey KW, DeStefano AL, Gillis T, Mysore J, Goldwurm S, Pezzoli G, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study. Movement Disorders 2008, 23(11), 1596-1601.
• Mackay DJG, Callaway JLA, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JMD, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nature Genetics 2008, 40(8), 949-951.
• Advani A, Vaikkakara S, Gill M, Arun CS, Pearce S, Ball SG, James R, Lennard TWJ, Bliss R, Quinton R, Johnson SJ. Impact of standardised reporting in adrenocortical carcinoma: A single centre clinicopathological review. Journal of Clinical Pathology 2008, 61(8), 939-944.
• Bauer R, Straub VW, Blain A, Bushby K, MacGowan GA. In-vivo direct and indirect myocardial effects of captopril in the mdx mouse. In: Neuromuscular Disorders: 13th International Congress of the World Muscle Society. 2008, Newcastle upon Tyne, UK: Elsevier Ltd.
• Al-Ozairi E, Michael E, Quinton R. Insulin resistance causing severe postmenopausal hyperandrogenism. International Journal of Gynecology and Obstetrics 2008, 100(3), 280-281.
• Yu Wai Man P, Elliott C, Griffiths PG, Johnson IJ, Chinnery PF. Investigation of auditory dysfunction in Leber hereditary optic neuropathy. Acta Ophthalmologica 2008, 86(6), 630-633.
• Ban M, Elson J, Walton A, Turnbull D, Compston A, Chinnery P, Sawcer S, Turnbull,D. Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility. PLoS ONE [Electronic Resource] 2008, 3(8), e2891.
• Nemes A, De Coo IFM, Spruijt L, Smeets HJM, Chinnery PF, Soliman OII, Geleijnse ML, Ten Cate FJ. Is there alteration in aortic stiffness in Leber hereditary optic neuropathy?. European Journal of Ophthalmology 2008, 18(2), 309-312.
• Tilgner K, Atkinson SP, Golebiewska A, Stojkovic M, Lako M, Armstrong L. Isolation of Primordial Germ Cells from Differentiating Human Embryonic Stem Cells. Stem Cells 2008, 26(12), 3075-3085.
• Eley L, Gabrielides C, Adams M, Johnson CA, Hildebrandt F, Sayer JA. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney International 2008, 74(9), 1139-1149.
• Klinge L, Dean AF, Kress W, Dixon P, Charlton RG, Müller JS, Anderson LV, Straub VW, Barresi R, Lochmüller H, Bushby K. Late onset in dysferlinopathy widens the clinical spectrum. Neuromuscular Disorders 2008, 18(4), 288-290.
• Hudson G, Yu Wai Man P, Chinnery P. Leber hereditary optic neuropathy. Expert Opinion on Medical Diagnostics 2008, 2(7), 789-799.
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