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

• C. Fey, A. R. J. Curtis, P. F. Chinnery, C. M. Morris, P. G. Ince, A. Coulthard, M. J. Jackson, W. A. Barker, A. Curtis and J. Burn. A dominant FTL mutation causes a novel and pleiotropic basal ganglia disorder that can mimic torsion-dystonia, Huntington's Disease and parkinsonism. American Journal of Human Genetics 2001, 69(4), 97.
• M. Jaksch,H. Lochmuller,F. Schmitt,B. Volpel,B. Obermaier-Kusser,R. Horvath. A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract. Neurology 2001, 57(10), 1930-1.
• Chinnery PF, Johnson MA, Walls TJ, Gibson J, Fawcett PRW, Jamieson S, Fulthorpe JJ, Cullen M, Hudgson P, Bushby KMD. A novel autosomal dominant distal myopathy with early respiratory failure: Clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci. Annals of Neurology 2001, 49(4), 443-452.
• Owens WA, Vitale N, Hasan A, Hamilton JRL. A policy of elective delayed sternal closure does not improve the outcome after arterial switch. Annals of Thoracic Surgery 2001, 71(5), 1553-1555.
• Santibanez-Koref MF, Gangeswaran R, Hancock JM. A relationship between lengths of microsatellites and nearby substitution rates in mammalian genomes.. Mol Biol Evol 2001 Nov;18(11):2119-23 2001.
• Hancock JM, Worthey EA, Santibez Koref MF. A Role for Selection in Regulating the Evolutionary Emergence of Disease Causing and Other Coding CAG Repeats in Humans and Mice. Molecular Biology and Evolution 2001, 18(6), 1014-1023.
• Craggs A, West S, Curtis A, Welfare MR, Hudson M, Donaldson PT, Mansfield JC. Absence of a genetic association between IL-1RN and IL-1B gene polymorphisms in ulcerative colitis and crohn disease in multiple populations from northeast England. Scandinavian Journal of Gastroenterology 2001, 36(11), 1173-1178.
• Evbuomwan IO, Davison JM, Baylis PH, Murdoch AP. Altered osmotic thresholds for arginine vasopressin secretion and thirst during superovulation and in the ovarian hyperstimulation syndrome (OHSS): Relevance to the pathophysiology of OHSS. Fertility and Sterility 2001, 75(5), 933-941.
• I. O. Evbuomwan,J. M. Davison,P. H. Baylis,A. P. Murdoch. Altered osmotic thresholds for arginine vasopressin secretion and thirst during superovulation and in the ovarian hyperstimulation syndrome (OHSS): relevance to the pathophysiology of OHSS. Fertility & Sterility 2001, 75(5), 933-41.
• J. Moll,P. Barzaghi,S. Lin,G. Bezakova,H. Lochmuller,E. Engvall,U. Muller,M. A. Ruegg. An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. Nature 2001, 413(6853), 302-7.
• J. L. Elson,R. M. Andrews,P. F. Chinnery,R. N. Lightowlers,D. M. Turnbull,N. Howell. Analysis of European mtDNAs for Recombination. American Journal of Human Genetics 2001, 68(1), 145-153.
• J. L. Elson,R. M. Andrews,P. F. Chinnery,R. N. Lightowlers,D. M. Turnbull,N. Howell. Analysis of European mtDNAs for recombination. Am J Hum Genet 2001, 68(1), 145-153.
• Vickers, M.A., E. McLeod, T.D. Spector and Wilson, I.J. Assessment of mechanism of acquired skewed X inactivation by analysis of twins. Blood 2001, 97(5), 1274-1281.
• Emery, A. M., Wilson, I. J., Craig, S., Boyle, P. R. , and Noble, L. R. Assignment of paternity groups without access to parental genotypes: multiple mating and developmental plasticity in squid. Molecular Ecology 2001, 10, 1265-1278.
• Pearce SHS, Cheetham TD. Autoimmune polyendocrinopathy syndrome type 1: Treat with kid gloves. Clinical Endocrinology 2001, 54(4), 433-435.
• Lako M, Lindsay S, Lincoln J, Cairns PM, Armstrong L, Hole N. Characterisation of Wnt gene expression during the differentiation of murine embryonic stem cells in vitro: Role of Wnt3 in enhancing haematopoietic differentiation. Mechanisms of Development 2001, 103(1-2), 49-59.
• Vafiadaki E, Reis A, Keers S, Harrison R, Anderson LVB, Raffelsberger T, Ivanova S, Hoger H, Bittner RE, Bushby K, Bashir R. Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation. NeuroReport 2001, 12(3), 625-629.
• Santagati, F., Gerber, J.K., Blusch, J.H., Kokubu, C., Peters, H., Adamski, J., Werner, T., Balling, R. and Imai, K. Comparative analysis of the genomic organization of Pax9 and its conserved physical association with Nkx2-9 in the human, mouse, and pufferfish genomes.. Mammalian Genome 2001, 12, 232-237.
• O'Neill S, Ekstrom L, Astowska M, Roberts P, Brodeur GM, Kees UR, Schwab M, Bown N. Comparative genomic hybridization in pineal parenchymal tumors. Genes Chromosomes and Cancer 2001, 30(1), 99-104.
• MacGowan GA, Du C, Wieczorek DF, Koretsky AP. Compensatory changes in Ca(2+) and myocardial O(2) consumption in beta-tropomyosin transgenic hearts. Am J Physiol Heart Circ Physiol 2001.
• Lastowska MA, Cullinane C, Variend S, Cotterill SJ, Bown NP, O'Neill S, Mazzocco K, Roberts P, Nicholson J, Ellershaw C, Pearson ADJ, Jackson MS. Comprehensive genetic and histopathologic study reveals three types of neuroblastoma tumors. Journal of Clinical Oncology 2001, 19(12), 3080-3090.
• Dickinson AJ, Perros P. Controversies in the clinical evaluation of active thyroid-associated orbitopathy: Use of a detailed protocol with comparative photographs for objective assessment. Clinical Endocrinology 2001, 55(3), 283-303.
• M. Jaksch,C. Paret,R. Stucka,N. Horn,J. Muller-Hocker,R. Horvath,N. Trepesch,G. Stecker,P. Freisinger,C. Thirion,J. Muller,R. Lunkwitz,G. Rodel,E. A. Shoubridge,H. Lochmuller. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Hum Mol Genet 2001, 10(26), 3025-35.
• K. Jahn,B. Mohammadi,K. Krampfl,A. Abicht,H. Lochmuller,J. Bufler. Deactivation and desensitization of mouse embryonic- and adult-type nicotinic receptor channel currents. Neurosci Lett 2001, 307(2), 89-92.
• J.A. Sayer & S.H.S. Pearce. Diagnosis and clinical biochemistry of inherited tubulopathies.. Annals of Clinical Biochemistry 2001, 38, 459-470.
• Sayer JA, Pearce SHS. Diagnostic and clinical biochemistry of inherited tubulopathies. Ann Clin Biochem 2001, 38:, 459-470..
• Canavan R, Perros P, Cross IE, Francis RM. Dual Aetiology of hypogonadism: Kallmann's syndrome with 47XXY gonadal dysgenesis (Klinefelter's syndrome). In: Endocrine Abstracts. 2001, BioScientifica Ltd..
• Mahjneh I, Marconi G, Bushby K, Anderson LVB, Tolvanen-Mahjneh H, Somer H. Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. Neuromuscular Disorders 2001, 11(1), 20-26.
• Chinnery PF, Turnbull DM. Epidemiology and treatment of mitochondrial disorders. American Journal of Medical Genetics 2001,106 1 94-101.
• Imrie H, Vaidya B, Perros P, Kelly WF, Toft AD, Young ET, Kendall-Taylor P, Pearce SHS. Evidence for a Graves' disease susceptibility locus at chromosome Xp11 in a United Kingdom population. Journal of Clinical Endocrinology and Metabolism 2001, 86(2), 626-630.
• B. Keavney,H. Watkins. Evolution of genetic analysis strategies in coronary heart disease: a case of unnatural selection?. Eur Heart J 2001, 22(4), 271-3.
• V. A. Straub,P. R. Benjamin. Extrinsic modulation and motor pattern generation in a feeding network: a cellular study. J Neurosci 2001, 21(5), 1767-78.
• A. Richards,M.R. Buddles,R.L. Donne,B.S. Kaplan,E. Kirk,M.C. Venning,C.L. Tielemans,J.A. Goodship,T.H.J. Goodship. Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18-20, a Domain Important for Host Cell Recognition. American Journal of Human Genetics 2001, 68(2), 485-490.
• Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Muller-Hocker J, Gerbits KD, Leichti-Gallati S, Lochmuller H, Horvath R. Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies. Journal of Medical Genetics 2001, 38(10), 665-673.
• Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Harrison R, Oeltjen J, Brown H, Marchand S, Bourg N, Beley DC, Barohn RJ, Urtizberea JA, Fardeau M, Bushby K, Beckmann JS, Brown RH. Genomic Organisation of the Dysferlin Gene and Novel Mutations in Miyoshi Myopathy.. Neurology 2001, 57, 271-278.
• Lüdecke, H-J., Schaper, J., Meinecke, P., Momeni, P.,Groß, S., von Holtum, D., Hirche, H., Abramowicz, M.J., Albrech, B., Apacik, C., Christen H-J,Claussen U, Devriendt K,Fastnacht E, Forderer A, Friedrich U, Goodship THJ, Greiwe M, Hamm H, Hennekam RCM, Hinkel GK, Hoeltzenbein M, Kayserili M, Majewski F, Mathieu M,McLeod M, Midro AT, Moog U, Nagai T, Niikawa N, Ørstavik K.H., Plöchl, E., Seitz, C., Schmidtke, J., Tranebjærg, L., Tsukahara, M., Witter, B., Zabel, B., Gillessen-Kaesbach, G., Horsthemke, B. Genotypic and phenotypic spectrum in Tricho-Rhino-Phalangeal syndrome types I and III. American Journal of Human Genetics 2001, 68, 81-91.
• G. C. Johnson,L. Esposito,B. J. Barratt,A. N. Smith,J. Heward,G. Di Genova,H. Ueda,H. J. Cordell,I. A. Eaves,F. Dudbridge,R. C. Twells,F. Payne,W. Hughes,S. Nutland,H. Stevens,P. Carr,E. Tuomilehto-Wolf,J. Tuomilehto,S. C. Gough,D. G. Clayton,J. A. Todd. Haplotype tagging for the identification of common disease genes. Nat Genet 2001, 29(2), 233-7.
• M. Jaksch,R. Horvath,N. Horn,D. P. Auer,C. Macmillan,J. Peters,K. D. Gerbitz,I. Kraegeloh-Mann,A. Muntau,V. Karcagi,R. Kalmanchey,H. Lochmuller,E. A. Shoubridge,P. Freisinger. Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Neurology 2001, 57(8), 1440-6.
• Quinton R, Duke VM, Robertson A, Kirk JMW, Matfin G, de Zoysa PA, Azcona C, MacColl GS, Jacobs HS, Conway GS, Besser M, Stanhope RG, Bouloux PMG. Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization. Clinical Endocrinology 2001, 55(2), 163-174.
• Estoup, A., Wilson, I. J., Sullivan, C., Cornuet, J. M., and Moritz, C. Inferring population history from microsatellite and enzyme data in serially introduced cane toads, Bufo marinus. Genetics 2001, 159, 1671-1687.
• Lifschitz-Mercer B, Elliott DJ, Schreiber-Bramante L, Leider-Trejo L, Eisenthal A, Maymon BB-S. Intratubular germ cell neoplasia: Associated infertility and review of the diagnostic modalities. International Journal of Surgical Pathology 2001. ,9 2 93-98.
• MacGowan GA, Du C, Cowan DB, Stamm C, McGowan FX, Solaro RJ, Koretsky AP, Del Nido PJ. Ischemic dysfunction in transgenic mice expressing troponin I lacking protein kinase C phosphorylation sites. Am J Physiol Heart Circ Physiol 2001.
• Chinnery PF, Andrews RM, Turnbull DM, Howell N. Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?. American Journal of Medical Genetics 2001, 98(3), 235-243.
• Hu TC, Pautler RG, MacGowan GA, Koretsky AP. Manganese-enhanced MRI of mouse heart during changes in inotropy. Magn Reson Med 2001.
• P. F. Chinnery,S. Jones,L. Sviland,R. M. Andrews,T. J. Parsons,D. M. Turnbull,L. A. Bindoff. Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract. Gut 2001, 48(1), 121-4.
• Favor, J., Peters, H., Hermann, T., Schmahl, W., Chatterjee, B., Neuhauser-Klaus, A. and Sandulache, R. Molecular characterization of Pax62Neu through Pax610Neu: An extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse, Mus musculus.. Genetics 2001, 159, 1689-1700.
• Lastowska M, Van Roy N, Bown N, Roberts P, Speleman F, Lunec J, Strachan T, Pearson ADJ, Jackson MS. Molecular cytogenetic definition of 17q translocation breakpoints in neuroblastoma. Pediatric Blood and Cancer 2001,36 1 20-23.
• Deeb A, Robertson A, MacColl G, Bouloux P, Winyard PJD, Woolf AS, Moghal NE, Cheetham TD. Multicystic dysplastic kidney and X linked Kallmann syndrome. Nephrology Dialysis Transplantation 2001, 16, 1170-1175.
• J. Nalbantoglu,N. Larochelle,E. Wolf,G. Karpati,H. Lochmuller,P. C. Holland. Muscle-specific overexpression of the adenovirus primary receptor CAR overcomes low efficiency of gene transfer to mature skeletal muscle. J Virol 2001, 75(9), 4276-82.
• Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhahi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T. Muscular dystrophy and neuronal migration disorder caused by muations in a novel glycosyltransferase, OMGnt.. Developmental Cell 2001, 1(717-724).
• A. Yoshida,K. Kobayashi,H. Manya,K. Taniguchi,H. Kano,M. Mizuno,T. Inazu,H. Mitsuhashi,S. Takahashi,M. Takeuchi,R. Herrmann,V. Straub,B. Talim,T. Voit,H. Topaloglu,T. Toda,T. Endo. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 2001, 1(5), 717-24.
• Curtis ARJ, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A and Burn J. Mutation in ferritin light chain causes dominant adult onset neurodegeneration. Nature Genetics 2001, 28.
• Curtis ARJ, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nature Genetics 2001, 28(4), 350-354.
• A. R. Curtis,C. Fey,C. M. Morris,L. A. Bindoff,P. G. Ince,P. F. Chinnery,A. Coulthard,M. J. Jackson,A. P. Jackson,D. P. McHale,D. Hay,W. A. Barker,A. F. Markham,D. Bates,A. Curtis,J. Burn. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 2001, 28(4), 350-4.
• Rovio AT, Marchington DR, Donat S, Schuppe HC, Abel J, Fritsche E, Elliott DJ, Laippala P, Ahola AL, McNay D, Harrison RF, Hughes B, Barrett T, Bailey DM, Mehmet D, Jequier AM, HargreaveTB, Kao SH, Cummins JM, Barton DE, Cooke HJ, Wei YH, Wichmann L, Poulton J, Jacobs HT. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nature Genetics 2001, 29, 261-262.
• M. Brockington,Y. Yuva,P. Prandini,S. C. Brown,S. Torelli,M. A. Benson,R. Herrmann,L. V. Anderson,R. Bashir,J. M. Burgunder,S. Fallet,N. Romero,M. Fardeau,V. Straub,G. Storey,C. Pollitt,I. Richard,C. A. Sewry,K. Bushby,T. Voit,D. J. Blake,F. Muntoni. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 2001, 10(25), 2851-9.
• Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.. Hum Mol Genet;10(25):2851-9. 2001.
• S. J. Perry,V. A. Straub,M. G. Schofield,J. F. Burke,P. R. Benjamin. Neuronal expression of an FMRFamide-gated Na+ channel and its modulation by acid pH. J Neurosci 2001, 21(15), 5559-67.
• P. F. Chinnery,D. J. Taylor,D. Manners,P. Styles,R. Lodi. No correlation between muscle A3243G mutation load and mitochondrial function in vivo. Neurology 2001, 56(8), 1101-4..
• P. F. Chinnery,D. J. Taylor,D. Manners,P. Styles,R. Lodi. No correlation between muscle A3243G mutation load and mitochondrial function in vivo. Neurology 2001, 56(8), 1101-4.
• Jagoe RT, Goodship THJ, Gibson GJ. Nutritional status of patients undergoing lung cancer operations. Annals of Thoracic Surgery 2001, 71(3), 929-935.
• McDermott CJ, Dayaratne RK, Tomkins J, Lusher ME, Lindsey JC, Johnson MA, Casari G, Turnbull DM, Bushby KMD, Shaw PJ. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.. Neurology 2001, 56(4), 467-471.
• Chinnery PF, Taylor GA, Howell N, Brown DT, Parsons TJ, Turnbull DM. Point mutations of the mtDNA control region in normal and neurodegenerative human brains. American Journal of Human Genetics 2001, 68(2), 529-532.
• J. Lampe,G. Gossrau,H. Reichmann,M. C. Walter,B. Mendel,H. Lochmuller. Prion codon 129 homozygosity and sporadic inclusion body myositis. Neurology 2001, 57(2), 368.
• T. D. Griffiths,S. Blakemore,C. Elliott,B. C. Moore,P. F. Chinnery. Psychophysical evaluation of cochlear hair cell damage due to the A3243G mitochondrial DNA mutation. J Assoc Res Otolaryngol 2001, 2(2), 172-9..
• T. D. Griffiths,S. Blakemore,C. Elliott,B. C. Moore,P. F. Chinnery. Psychophysical evaluation of cochlear hair cell damage due to the A3243G mitochondrial DNA mutation. J Assoc Res Otolaryngol 2001, 2(2), 172-9.
• Brown DT, Samuels DC, Michael EM, Turnbull DM, Chinnery PF. Random genetic drift determines the level of mutant mtDNA in human primary oocytes. American Journal of Human Genetics 2001,68 2 533-536.
• Elson JL, Samuels DC, Turnbull DM, Chinnery PF. Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age. American Journal of Human Genetics 2001, 68(3), 802-806.
• B. Maymon, D.J. Elliott, SE Kleiman, L. Yogev, H.J. Cooke, G. Paz and H. Yavetz. RBM as a specific marker for germ cells in testicular biopsies from infertile men. Human Pathology 2001, 32, 36-41..
• Aithal GP, Mansfield JC. Review article: The risk of lymphoma associated with inflammatory bowel disease and immunosuppressive treatment. Alimentary Pharmacology and Therapeutics 2001, 15(8), 1101-1108.
• Aithal GP, Craggs A, Day CP, Welfare M, Daly AK, Mansfield JC, Hudson M. Role of polymorphisms in the interleukin-10 gene in determining disease susceptibility and phenotype in inflamatory bowel disease. Digestive Diseases and Sciences 2001, 46(7), 1520-1525.
• Quinton R, Beirne P, Bouloux P-MG, Stanhope RG, Conway GS. Routine neuroimaging in classical isolated gonadotrophin deficiency is of limited clinical value. Clinical Endocrinology 2001, 54(1), 127-129.
• H. Haravuori,A. Vihola,V. Straub,M. Auranen,I. Richard,S. Marchand,T. Voit,S. Labeit,H. Somer,L. Peltonen,J. S. Beckmann,B. Udd. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology 2001, 56(7), 869-77.
• J. S. Sinsheimer,C. A. McKenzie,B. Keavney,K. Lange. SNPs and snails and puppy dogs' tails: analysis of SNP haplotype data using the gamete competition model. Ann Hum Genet 2001, 65(Pt 5), 483-90.
• Pogue R, Anderson LVB, Pyle A, Sewry C, Pollitt C, Johnson MA, Davison K, Moss JA, Mercuri E, Muntoni F, Bushby KMD. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscular Disorders 2001, 11(1), 80-87.
• Lin F, Owens WA, Chen S, Stevens ME, Kesteven S, Arthur JF, Woodcock EA, Feneley M, Graham RM. Targeted a1A-adrenergic receptor overexpression induces enhanced cardiac contractility but not hypertrophy. Circulation Research 2001, 89(4), 343-50.
• Nanda N, Iismaa S, Owens WA, Husain A, Mackay F, Graham RM. Targeted inactivation of Gh/transglutaminase II. Journal of Biological Chemistry 2001, 276(23), 20673 - 8.
• Craggs A, Welfare M, Donaldson PT, Mansfield JC. The CC chemokine receptor 5 Delta 32 mutation is not associated with inflammatory bowel disease (IBD) in NE England. Genes and Immunity 2001, 2(2), 114-116.
• Deeb A, Shenton BK, Redfern CPF, Cheetham TD, Ball SG. The effects of growth hormone releasing hormone and its receptor on somatotroph proliferation and cell cycle kinetics in vitro. In: 20th Joint Meeting of the British Endocrine Societies. 2001, Belfast, UK.
• P.F. Chinnery,D.M. Turnbull. The epidemiology and treatment of mitochondrial disease. American Journal of Medical Genetics 2001, 106, 94-101.
• Jagoe RT, Goodship THJ, Gibson GJ. The influence of nutritional status on complications after operations for lung cancer. Annals of Thoracic Surgery 2001, 71(3), 936-943.
• C. Livingstone,P. F. Chinnery,D. M. Turnbull. The ischaemic lactate-ammonia test. Ann Clin Biochem 2001, 38(Pt 4), 304-10..
• C. Livingstone,P. F. Chinnery,D. M. Turnbull. The ischaemic lactate-ammonia test. Ann Clin Biochem 2001, 38(Pt 4), 304-10.
• Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J, Applegarth DA, Turnbull DM, Howell N. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Brain 2001,124 1 209-218.
• Pollitt C, Anderson LVB, Pogue R, Davison K, Pyle A, Bushby KMD. The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach (LGMD2A).. Neuromuscular Disorders 2001, 11, 287-296.
• Crowne EC, Samra JS, Cheetham T, Acerini CL, Watts A, Holly JM, Dunger DB. The role of IGF-binding proteins in mediating the effects of recombinant human IGF-I on insulin requirements in type 1 diabetes mellitus. Journal of Clinical Endocrinology & Metabolism 2001, 86, 3686-91.
• A. J. O'Hara,J. M. Howell,R. H. Taplin,S. Fletcher,F. Lloyd,B. Kakulas,H. Lochmuller,G. Karpati. The spread of transgene expression at the site of gene construct injection. Muscle Nerve 2001, 24(4), 488-95.
• Sayer JA, Stewart GS, Boese SH, Gray MA, Pearce SHS, Goodship THJ, Simmons NL. The voltage dependent Cl^- channel CLC-5 and plasma membrane Cl^- conductances of mouse renal collecting duct cells (mIMCD-3). Journal of Physiology 2001, 536(3), 769-783.
• Marsden PJ, Murdoch AP, Taylor R. Tissue insulin sensitivity and body weight in polycystic ovary syndrome. Clinical Endocrinology 2001, 55(2), 191-199.
• Wagner KJ, Patek CE, Miles C, Christie S, Brookes AJ, Hooper ML. Truncation of WT1 results in downregulation of cyclin G1 and IGFBP-4 expression.. Biochem Biophys Res Commun 2001, 287(4), 977-82..
• G. Karpati,H. Lochmuller. When running a stop sign may be a good thing. Ann Neurol 2001, 49(6), 693-4.