Dr Grainne GormanBiomedical Research Centre Fellow
Email: grainne.gorman@ncl.ac.uk Telephone: +44 (0) 191 222 6365 Address: Mitochondrial Research Group
Narayan SK, Gorman G, Kalaria RN, Ford GA, Chinnery PF. The minimum prevalence of CADASIL in northeast England .
Neurology 2012, 78 (13), 1025-1027.
Cadogan M, Elson JL, Shehnaz A, Whittaker RJ, Phillips A, Trenell MI, Horvath R, Taylor RW, McColl E, Turnbull DM, Gorman GS. Development and validation of a mitochondrial disease quality of life scale .
NMD 2011. Submitted.
Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Pitceathly RDS, Hanna MG, Poulton J, Brierley C, Staunton TG, Tumpenny PD, Schaefer AM, Chinnery PF, Horvath R, Tumbull DM, Gorman GS. Dominant and recessive RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions .
In: Journal of Medical Genetics: British Human Genetics Conference . 2011, Warwick, Coventry: BMJ Group.
Fratter C, Raman P, Alston C, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW. Dominant and recessive RRM2B mutations cause familial PEO and multiple mtDNA deletions in muscle .
In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference . 2011, London, UK: Elsevier Ltd.
Apabhai S, Gorman GS, Sutton L, Elson JL, Ploetz T, Turnbull DM, Trenell MI. Habitual Physical Activity in Mitochondrial Disease .
PLoS One 2011, 6 (7), e22294.
Horvath R, Reilich R, Krause S, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H. Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment .
In: UK Neuromuscular Translational Research Conference . 2011, London: Neuromuscular Disorders: Pergamon.
Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW. RRM2B mutations are frequent in familial peo with multiple mtDNA deletions .
Neurology 2011, 76 (23), 2032-2034.
Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmuller H. The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene .
Journal of Neurology 2011, 258 (11), 1987-1997.
