McNeill, Alisdair - University of Sheffield - Department of Neuroscience

个人简介

I qualified MBChB (Hons) from Edinburgh University in 2004 and obtained the MRCP (UK) in 2007. I undertook Medical SHO training in Newcastle-upon-Tyne and Edinburgh, Clinical Genetics SpR training in the West Midlands and an MRC Clinical Research Training Fellowship at UCL.

研究领域

My research interest focuses on the genetic cause of neurological disorders, in children and adults. I am identifying new ways of phenotyping patients in order to improve diagnosis and disease monitoring. For example, using patient wearable movement sensors (collaboration with INSIGNEO) in adults with neurological disorders and 3-dimensional facial image analysis (collaboration with Prof Peter Hammond, Oxford) in children with chromosome microdeletions. I am also interested in studying variants of uncertain significance identified in clinical genetics testing, and resolving their pathogenicity through clinical phenotyping and in vitro studies.

近期论文

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Beavan M, McNeill A, Proukakis C, et al. Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort. JAMA Neurol 2015; 72: 201-208. McNeill A, Magalhaes J, Shen C, et al. Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation linked Parkinson's disease cells. Brain 2014; 137:1481-95. McNeill A, Healy DG, Schapira AH, Taanman JW. Glucosylceramidase metabolism in fibroblasts carrying bi-allelic Parkin mutations. Mol Genet Metab 2013;109:402-3. Dziewulska D, Do H, Fasano A, Erro R, Fatehi F Fekete R, Gatto EM, Pablos EG, Lehn A, Miyajima H, Piperno A, Pellechia MT, Wu YR, Yoshida K, Zarruk JG, Jingli S, Shrag AE, McNeill A. Olfactory impairment and pathology in neurodegenerative disorders with brain Iron accumulation. Acta Neuropathol 2013; 126: 151-153. McNeill A, Roberti G, Lascaratos G, Mehta A, Hughes DA, Garway-Heath D, Schapira AH. Retinal thinning in Gaucher disease patient and carriers: results of a pilot study. Mol Genet Metab 2013; 109: 221- 3. McNeill A, Duran R, Mehta A, Hughes D, Schapira AH. A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers. J Neurol Neurosurg Psych 2012;83: 853-854. McNeill A, Gorman G, Khan A, Burn J, Blamire A, Chinnery PF. Progressive iron accumulation in neuroferritinopathy measured by the thalamic R2* relaxation rate. Am J Neuroradiol 2012; 33: 1810-1813. McNeill A, Duran R, Bras J, Mehta A, Hughes D, Hardy J, Wood NW, Schapira AH. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord 2012; 27: 526-532.