Sheffield Institute for
Translational Neuroscience

Recent Publications

Motor Neuron Disease (MND) /Amyotrophic Lateral Sclerosis (ALS)

Baker, DJ; Blackburn, DJ; Keatinge, M; Sokhi, D; Viskaitis, P; Heath, PR; Ferraiuolo, L; Kirby, J
and Shaw, PJ (2015)
Lysosomal and Phagocytic activity is increased in astrocytes during disease progression in the SOD1G93A mouse model of amyotrophic lateral sclerosis.
Front. Cell. Neurosc. 9:410. doi:10.3389/fncel.2015.00410.

Bury JJ, Highley JR, Cooper-Knock J, Goodall EF, Higginbottom A, McDermott CJ, Ince PG, Shaw PJ and Kirby J (2015)
Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.
Neuropathology doi: 10.1111/neup.12240, Epub 24 August 2015.

DiPALS Study Group (2015)
Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial.
Lancet Neurology 14, 9: 883–892.

Allen SP, Duffy LM, Shaw PJ, Grierson AJ (2015)
Altered age related changes in bioenergetic properties and mitochondrial morphology in fibroblasts from sporadic amyotrophic lateral sclerosis (SALS).
Neurobiology of Aging doi:10.1016/j.neurobiolaging.2015.07.013.

The DiPALS Study Group
Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial.
The Lancet Neurology; doi: 10.1016/S1474-4422(15)00152-0.

The ProGas Study Group (2015)
Gastrostomy in patients with amyotrophic lateral sclerosis (ProGas): a prospective cohort study.
The Lancet Neurology, 29 May 2015.

Highley JR, Lorente Pons A, Cooper-Knock J, Wharton SB, Ince PG, Shaw PJ, Wood J, Kirby J (2015)
Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate length CAG repeat expansions in Ataxin-2 does not have 1C2-positive.
Neuropathol Appl Neurobiol. Jun 11. doi: 10.1111/nan.12254.

Cooper-Knock J, Bury JJ, Heath PR, Wyles M, Higginbottom A, Gelsthorpe C, Highley JR, Hautbergue G, Rattray M, Kirby J, Shaw PJ. (2015)
C9ORF72 GGGGCC expanded repeats produce splicing dysregulation which correlates with disease severity in amyotrophic lateral sclerosis.
PLOS One, 27 May 2015.

Peters OM, Shelkovnikova T, Highley JR, Cooper-Knock J, Hortobagyi T, Troakes C, Ninkina N & Buchman VL (2015)
Gamma-synuclein pathology in amyotrophic lateral sclerosis.
Annals of Clinical and Translational Neurology 2(1): 29–37. doi: 10.1002/acn3.143.

Cooper-Knock J, Kirby, Highley JR and Shaw PJ (2015)
The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.
Neurotherapeutics 12(2):326-39. doi: 10.1007/s13311-015-0342-1.

Cooper-Knock J, Higginbottom A, Stopford MJ, Highley JR, Ince PG, Wharton SB, Pickering-Brown S, Kirby J, Hautbergue GM, Shaw PJ (2015)
Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.
Acta Neuropathologica, 6 May 2015.

Parkinson’s Disease and other movement disorders

Mortiboys, H, Furmston, R, Bronstad, G, Aasly, J, Elliott, C., Bandmann, O. (2015)
UDCA exerts beneficial effect on mitochondrial dysfunction in
LRRK2G2019S carriers and in vivo.
Neurology 85:1-7.

Williams IA, Wilkinson L, Limousin P, Jahanshahi M.
Load-Dependent Interference of Deep Brain Stimulation of the Subthalamic Nucleus with Switching from Automatic to Controlled Processing During Random Number Generation in Parkinson's Disease.
Journal of Parkinson’s Disease doi:10.3233/JPD-140355.

Diot A, Hinks-Roberts A, Lodge T, Liao C, Dombi E, Morten K, Brady S, Fratter C, Carver J, Muir R, Davis R, Green CJ, Johnston I, Hilton-Jones D, Sue C, Mortiboys H, Poulton J (2015)
A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.
Pharmacol Res. Jul 18;100:24-35. doi: 10.1016/j.phrs.2015.07.014.

Beavan M, McNeill A, Proukakis C, et al. (2015)
Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort. 
JAMA Neurol 72: 201-208.

McNeill A, Magalhaes J, Shen C, et al. (2014)
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation linked Parkinson's disease cells.
Brain 137:1481-95. 

Cognitive Decline and Dementia in the Aging Population

Neuropathology Group

Fluteau A, Ince PG, Minett T, Matthews FE, Brayne C, Garwood CJ, Ratcliffe LE, Morgan S, Heath PR, Shaw PJ, Wharton SB, Simpson JE; MRC Cognitive Function Ageing Neuropathology Study Group (2015)
The nuclear retention of transcription factor FOXO3a correlates with a DNA damage response and increased glutamine synthetase expression by astrocytes suggesting a neuroprotective role in the ageing brain.
Neurosci Lett. pii: S0304-3940(15)30164-6. doi: 10.1016/j.neulet.2015.10.001.

Al-Mashhadi S, Simpson JE, Heath PR, Dickman M, Forster G, Matthews FE, Brayne C, Ince PG, Wharton SB (2015)
Medical Research Council Cognitive Function and Ageing Study. Oxidative glial cell damage associated with white matter lesions in the aging human brain.
Brain Pathol. 25:565-574. doi: 10.1111/bpa.12216.

Garwood CJ, Ratcliffe LE, Morgan SV, Simpson JE, Owens H, Vazquez-Villaseñor I, Heath PR, Romero IA, Ince PG, Wharton SB (2015)
Insulin and IGF1 signalling pathways in human astrocytes in vitro and in vivo; characterisation, subcellular localisation and modulation of the receptors.
Mol Brain. Aug 22;8(1):51. doi: 10.1186/s13041-015-0138-6.

Simpson JE, Ince PG, Matthews FE, Shaw PJ, Heath PR, Brayne C, Garwood C, Higginbottom A, Wharton SB; MRC Cognitive Function and Ageing Neuropathology Study Group. (2015)
A neuronal DNA damage response is detected at the earliest stages of Alzheimer's neuropathology and correlates with cognitive impairment in the Medical Research Council's Cognitive Function and Ageing Study ageing brain cohort.
Neuropathol Appl Neurobiol. 41(4):483-96.

Simpson JE, Ince PG, Minett T, Matthews FE, Heath PR, Shaw PJ, Goodall E, Garwood CJ, Ratcliffe LE, Brayne C, Rattray M,Wharton SB. (2015)
Neuronal DNA damage response-associated dysregulation of signalling pathways and cholesterol metabolism at the earliest stages of Alzheimer-type pathology.
Neuropathol Appl Neurobiol. Jun 11. doi: 10.1111/nan.12252.

Mathur R, Ince PG, Minett T, Garwood CJ, Shaw PJ, Matthews FE, Brayne C, Simpson JE, Wharton SB, on behalf of the MRC Cognitive Function and Ageing Neuropathology Study Group (2015)
A Reduced Astrocyte Response to β-Amyloid Plaques in the Ageing Brain Associates with Cognitive Impairment.
PLoS ONE 10(2): e0118463. doi:10.1371/journal.

Translational Neuropsychology Group

De Marco M, Iavarone A, Santoro G, Carlomagno S. (2015)
Brief Report: Two Day-Date Processing Methods in an Autistic Savant Calendar Calculator.
J Autism Dev Disord. Oct 17. Epub

Di Marco LY, Venneri A, Farkas E, Evans PC, Marzo A, Frangi AF. (2015)
Vascular dysfunction in the pathogenesis of Alzheimer's disease - A review of endothelium-mediated mechanisms and ensuing vicious circles.
Neurobiol Dis. pii: S0969-9961(15)30034-6. doi: 10.1016/j.nbd.2015.08.014

Beltrachini L, De Marco M, Taylor ZA, Lotjonen J, Frangi AF and Venneri A(2015)
Integration of Cognitive Tests and Resting State fMRI for the Indivi-dual Identification of Mild Cognitive Impairment.
Current Alzheimer Research 12(6) 592-603.

Benavides-Varela S, Burgio F, Meneghello F, De Marco M, Arcara G, Rigon J, Pilosio C, Butterworth B, Venneri A, Semenza C (2015)
Anatomical substrates and neurocognitive predictors of daily numerical abilities in Mild Cognitive Impairment.
Cortex 71:58-67. doi: 10.1016/j.cortex.2015.05.031.

Alzahrani H, Venneri A. (2015)
Cognitive and neuroanatomical correlates of neuropsychiatric symptoms in Parkinson's disease: A systematic review.
J Neurol Sci. Sep 15;356(1-2):32-44. doi: 10.1016/j.jns.2015.06.037.

De Marco M, Merico A, Berta G, Segato N, Citton V, Baglione A, and Venneri A (2015)
Morphometric correlates of dysarthric deficit in amyotrophic lateral sclerosis
Informa Healthcare June 29 doi:10.3109/21678421.2015.1056191.

Jones D, Drew P, Elsey C, Blackburn D, Wakefield S, Harkness K, Reuber M (2015)
Conversational assessment in memory clinic encounters: interactional profiling for differentiating dementia from functional memory disorders.
Aging Ment Health 24:1-10.

Mitolo M, Gardini S, Caffarra P, Ronconi L, Venneri A, Pazzaglia F (2015)
Relationship between spatial ability, visuospatial working memory and self-assessed spatial orientation ability: a study in older adults.
Cogn Process Mar 6 [Epub ahead of print]

Mitolo M, Venneri A, Wilkinson ID, Sharrack B (2015)
Cognitive rehabilitation in multiple sclerosis: A systematic review
Journal of Neurological Sciences 9 May 2015.

De Marco M, Venneri A (2015)
‘O’ blood type is associated with larger grey-matter volumes in the cerebellum.
Brain Research Bulletin 21 May 2015.

Webb TL, Sheeran P, Miles E, Wilkinson ID, Hunter MD, Barker AT, Woodruff PW, Totterdell P, Lindquist KA, Farrow TF, Hallam GP (2015)
The neural correlates of emotion regulation by implementation intentions.
PLoS One 2015 Mar 23;10(3):e0119500. doi: 10.1371/

Farrow TFD, Burgess J, Wilkinson ID, Hunter M.D. (2015)
Neural correlates of self-deception and impression management.
Neuropsychologia 67, 159-174 .

Benn Y, Webb TL, Chang B, Sun YH, Wilkinson ID, Farrow TFD (2015)
The neural basis of monitoring goal progress.
Frontiers in Human Neuroscience 8, Article 688, 1-15.

Hallam GP, Webb TL, Sheeran P, Miles E, Wilkinson ID, Hunter MD, Barker AT, Woodruff PWR, Totterdell P, Lindquist KA, Farrow TFD, Hallam GP (2015)
The neural correlates of emotion regulation by implementation intentions.
PLoS ONE 2015; 10(3): e0119500.


Novakova B, Howlett S, Baker R, Reuber M (2015)
Emotion Processing and Psychogenic Non-epileptic Seizures: a cross-sectional comparison of patients and healthy controls.
Seizure 2, 9: 4-10.

Novakova B, Harris PR, Ponnusamy A, Reuber M (2013)
The role of stress as a trigger for epileptic seizures: a narrative review of evidence from human and animal studies.
Epilepsia 54 (11) 1866 – 76.

Bioinformatics, Computational Biology and Machine Learning

Hensman J, Papastamoulis P, Glaus P, Honkela A, Rattray M (2015)
Fast and accurate approximate inference of transcript expression from RNA-seq data.
Bioinformatics Aug 26. pii: btv483.

Perdigão-Henriques R, Petrocca F, Altschuler G, Thomas MP, Le MTN, Tan SM, Hide W and Lieberman J. (2015)
miR-200 promotes the mesenchymal to epithelial transition by suppressing multiple members of the Zeb2 and Snail1 transcriptional repressor complexes
Oncogene Mar 23. doi: 10.1038/onc.2015.69.

Dimont E, Shi J, Kirchner R and Hide W (2015)
edgeRun: an R package for sensitive, functionally relevant differential expression discovery using an unconditional exact test.
Bioinformatics 31(15):2589-90. doi: 10.1093/bioinformatics/btv209. 

Fogg CN, Kovats DE (2015)
Computational Biology: Moving into the Future One Click at a Time.
PLoS Comput Biol 11(6): e1004323. doi:10.1371/journal.pcbi.1004323.

Rare Diseases

Hempel A, Pagnamenta AT,  Blyth M, Mansour S, McConnell  V,  Kou I,  Shiro I, Tsurusaki Y,  Matsumoto N,  Lo-Castro A,  Plessis G, Albrecht B, Battaglia A, Taylor JC, Howard MF, Keays D, Sohal AS, DDD collaboration, Kühl SJ,  Kini U, McNeill A (2015)
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome.
J Med Genet