'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia'
Abeti, R, Parkinson, M H, Hargreaves, I P, Angelova, P R, Sandi, C, Pook, M A, Giunti, P, Abramov, A Y
Published in Cell death & disease (26.05.2016)
Published in Cell death & disease (26.05.2016)
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Journal Article
Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations
THAKKER, R. V, POOK, M. A, WOODING, C, BOSCARO, M, SCANARINI, M, CLAYTON, R. N
Published in The Journal of clinical investigation (01.06.1993)
Published in The Journal of clinical investigation (01.06.1993)
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Journal Article
Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies
SCHNEINMAN, S. J, POOK, M. A, WOODING, C, PANG, J. T, FRYMOYER, P. A, THAKKER, R. V
Published in The Journal of clinical investigation (01.06.1993)
Published in The Journal of clinical investigation (01.06.1993)
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Journal Article
Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22
Pook, M A, Wrong, O, Wooding, C, Norden, A G, Feest, T G, Thakker, R V
Published in Human molecular genetics (01.12.1993)
Published in Human molecular genetics (01.12.1993)
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Journal Article
Localization of the Tamm‐Horsfall glycoprotein (unomodulin) gene to chromosome 16p12.3‐16p13.11
POOK, M. A., JEREMIAH, S., SCHEINMAN, S. J., POVEY, S., THAKKER, R. V.
Published in Annals of human genetics (01.10.1993)
Published in Annals of human genetics (01.10.1993)
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Journal Article
Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11q13, and exclusion of mu-calpain as the multiple endocrine neoplasia type 1 gene
Pang, J T, Lloyd, S E, Wooding, C, Farren, B, Pottinger, B, Harding, B, Leigh, S E, Pook, M A, Benham, F J, Gillett, G T, Taggart, R T, Thakker, R V
Published in Human genetics (01.06.1996)
Published in Human genetics (01.06.1996)
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Journal Article
Characterization of an expressible nonclassical class I HLA gene
Pook, Mark A., Woodcock, Valerie, Tassabehji, May, Duncan Campbell, R., Summers, Colin W., Taylor, Malcolm, Strachan, Tom
Published in Human immunology (01.10.1991)
Published in Human immunology (01.10.1991)
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Journal Article
The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase
Carvajal, Jaime J, Pook, Mark A, Santos, Maria dos, Doudney, Kit, Hillermann, Renate, Minogue, Shane, Williamson, Robert, Hsuan, J. Justin, Chamberlain, Susan
Published in Nature genetics (01.10.1996)
Published in Nature genetics (01.10.1996)
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Journal Article
Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis
POOK, Mark A, AL-MAHDAWI, Sahar, KOENIG, Michel, CHAMBERLAIN, Susan, CARROLL, Christopher J, COSSEE, Mireille, PUCCIO, Hélène, LAWRENCE, Lorraine, CLARK, Peter, LOWRIE, Margaret B, BRADLEY, Jane L, COOPER, J. Mark
Published in Neurogenetics (01.10.2001)
Published in Neurogenetics (01.10.2001)
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Journal Article
Polymerase chain reaction analysis of transcriptional patterns of expression of class I HLA genes
Summers, Colin W., Woodcock, Valerie, Pook, Mark A., Strachan, Tom
Published in Human immunology (01.11.1991)
Published in Human immunology (01.11.1991)
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Journal Article
Friedreich's ataxia: a defect in signal transduction?
Carvajal, J J, Pook, M A, Doudney, K, Hillermann, R, Wilkes, D, al-Mahdawi, S, Williamson, R, Chamberlain, S
Published in Human molecular genetics (01.08.1995)
Published in Human molecular genetics (01.08.1995)
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Journal Article
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology
Al-Mahdawi, Sahar, Pinto, Ricardo Mouro, Varshney, Dhaval, Lawrence, Lorraine, Lowrie, Margaret B., Hughes, Sian, Webster, Zoe, Blake, Julian, Cooper, J. Mark, King, Rosalind, Pook, Mark A.
Published in Genomics (San Diego, Calif.) (01.11.2006)
Published in Genomics (San Diego, Calif.) (01.11.2006)
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Journal Article
YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit
Cemal, Cemal K., Carroll, Christopher J., Lawrence, Lorraine, Lowrie, Margaret B., Ruddle, Piers, Al-Mahdawi, Sahar, King, Rosalind H.M., Pook, Mark A., Huxley, Clare, Chamberlain, Susan
Published in Human molecular genetics (01.05.2002)
Published in Human molecular genetics (01.05.2002)
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Journal Article