116th Meeting of the British Neuropathological Society Institute of Child Health, London PROGRAMME WEDNESDAY, 4th MARCH 2015
Symposium Programme: Recent Advances in Muscle Disease Chairs: Professor Caroline Sewry and Professor Janice Holton UCL Institute of Child Health and UCL Institute of Neurology 13:00
Registration
14:00
Welcome and introduction – Caroline Sewry, UCL Institute of Child Health, London, UK
14:15
Advances in the treatment of muscle diseases Professor Francesco Muntoni, UCL Institute of Child Health, London, UK Protein aggregate myopathies: An update Professor Rolf Schroder, University Hospital Erlangen, Erlangen, Germany Autoantibodies in juvenile myositis: Associations, predictions and subphenotypes Professor Lucy Wedderburn, UCL Institute of Child Health, London, UK
14:45 15:15 15.45
Coffee Break
16:15
Neurodevelopmental, neurodegenerative and neuromuscular disorders due to defects in membrane trafficking and autophagy Dr Heinz Jungbluth, Guy’s and St Thomas’ NHS Foundation Trust, and King’s College, London, UK Stem cell research in muscle disease Professor Jenny Morgan, UCL Institute of Child Health, London, UK
16:45 17:15
Coffee break
17:30
Alfred Meyer Memorial Lecture Professor Doug Turnbull, Newcastle University, Newcastle upon Tyne, UK Advances in mitochondrial disease and new therapies
18:30
RECEPTION
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THURSDAY 5th MARCH 2015 08:00 08:50
Registration Opening of meeting – Seth Love, BNS President
09:00 – 10:45
FIRST SCIENTIFIC SESSION – Neuropathology of Neurodegeneration Chairs: Paul G. Ince and Johannes Attems
9:00
The effect of hypertension and anti-hypertensive treatment on Aβ plaque load and on β- and γ-secretase activity in the frontal cortex E.L. Ashby, J.S. Miners, E. Dale, S. Love, P.G. Kehoe The role of tau in the pathological process and clinical expression of Huntington’s disease R. Vuono, S. Winder-Rhodes, R. de Silva, G. Cisbani, J. Drouin-Ouellet, M.G. Spillantini, F. Cicchetti, R.A. Barker A cell-based biosensor for pathological tau uptake and aggregation B. Hapuarachchi, M. Roberts, J. Staddon, T. Warner, R. de Silva The presence of heterogeneous nuclear ribonucleoproteins in frontotemporal dementia with FUS positive inclusions T. Lashley, P. Gami, R. Bandopadhyay, T. Revesz Accumulation of α-synuclein in dementia with Lewy bodies is associated with decline in the α-synuclein-degrading enzymes kallikrein-6, calpain-1 and endothelin-converting enzyme-1 and -2 J.S. Miners, S. Love Mitochondrial dysfunction in Parkinson’s disease: Is it the earliest feature? C.E. Murray, S.N. Pressey, W.E. Heywood, I.P. Hargreaves, V. Neergheen, S. Wauters, M. Palkovits, E. Gelpi, C. Troakes, S.M. Gentleman, K. Mills, J.L. Holton, T. Revesz, S. Gandhi Sub-regional nucleus basalis of Meynert pathology in Lewy body disorders A.K.L. Liu, R.C.C. Chang, R.K.B. Pearce, S.M. Gentleman
9:15
9:30 9:45
10:00
10:15
10:30 10:45 – 11:15
Coffee break
11:15 – 12:45
SECOND SCIENTIFIC SESSION – Tumours of the Central Nervous System Chair: Silvia Marino and David W. Ellison
11:15
Infant posterior fossa ependymoma comprises two molecular subgroups D.W. Ellison, K.W. Pajtler, T. Lin, S.M. Pfi ster, T. Merchant, A. Korshunov Establishing a diagnostic pipeline for methylome analysis of paediatric and adult brain tumours in the UK using the Heidelberg classifier S. Brandner, Z. Jaunmuktane, T. J. Stone, J. Chalker, M. Hubank, T.S. Jacques c-Myc is expressed in a proportion of human choroid plexus tumours and its overexpression in the developing mouse CNS induces choroid plexus tumorigenesis A. Merve, X. Zhang, S. Acquati, S. Marino Glioneuronal tumours: Classification, outcome and molecular genetics T.J. Stone, A. Keeley, A. Virasami, W. Harkness, M. Tisdall, D. Hargrave, M. Hubank, J.H. Cross, J. Ham, T.S. acques Prognostic and therapeutic markers in chordomas: A study of 287 tumors A. Tauziede-Espariat , M. Polivka, F. Labrousse, E. Aronica, S. Bouazza, H. Salle, A. Laquerriere, S. Froelich, H. Adle-Biassette The biological behaviour and prognosis of anaplastic oligodendroglioma with necrosis R. C. Laxton, M. Aizpurua, L. Doey, I. Bodi, A. King, R. Bhangoo, R. Beaney, L. Brazil, K. Ashkan, S. Al-Sarraj
11:30
11:45
12:00
12:15
12:30
12:45 – 14:00
Lunch and Poster Discussion
14:00
THE CAVANAGH PRIZE LECTURE Chair: Seth Love Development of molecular markers for brain tumour classification David Capper - University of Heidelberg
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15:00 – 16:00
THIRD SCIENTIFIC SESSION – Neuropathology of Epilepsy Chair: Thomas Jacques and Maria Thom
15:00
A review of primary and secondary neuropathological changes in autopsy epileptic brains O. Adegbaju, I. Bodi, M. Honavar, S. Al-Sarraj Identifying novel cell types in focal cortical dysplasia by gene network analysis F. Scerif, S.R. Picker, S.A. Yasin, A. Virasami, A. Alahdal, W. Harkness, M. Tisdall, F. Guillemot, S.M.L. Paine, J.H. Cross, T.S. Jacques Distribution of nestin and doublecortin expressing cells in temporal lobe epilepsy with hippocampal sclerosis M. Thom, J. Liu, C. Reeves, M. Matarin, S. Sisodiya Combined ex-vivo 9.4Tesla MRI and quantitative histopathological study in normal and pathological surgical resections in focal epilepsy C. Reeves , M. Tachrount, D. Thomas, Z. Michalak, J. Liu, M. Ellis, S. Eriksson, T. Yousry, M. Thom
15:15
15:30
15:45
16:00 – 16:30
Coffee Break
16:30 – 17:30
BUSINESS MEETING
17:30 – 18:30
PROFESSIONAL AFFAIRS MEETING
19:30
SOCIETY DINNER AT THE HONOURABLE SOCIETY OF LINCOLN’S INN Southeast corner of Lincoln’s Inn Fields, junction with Serle Street, WC2A 3TL http://www.lincolnsinn.org.uk
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FRIDAY 6th MARCH 2015 9:00 – 10:30
FOURTH SCIENTIFIC SESSION – Pathology of Skeletal Muscle and Nerves Chairs: Caroline A. Sewry and Janice L. Holton
9:00
Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy W. Stenzel, C. Preuße, Y. Allenbach, D. Pehl, R. Junckerstorff, E. Aronica, E. Rushing, O. Benveniste, J. Weis, H-H. Goebel Sub-phenotyping of juvenile dermatomyositis C.T. Deakin, S.A. Yasin, K. Arnold, S.L. Tansley, Z.E. Betteridge, N.J. McHugh, J.L. Holton, T.S. Jacques, C. Pilkington, M. De Iorio, L.R. Wedderburn Congenital myopathy with Lamin A/C mutation J.L. Rinnenthal, A. Hucko, M. Schuelke, H.H. Goebel, W. Stenzel Unique brick-red auto-fluorescence of reducing bodies and protein aggregates is a useful diagnostic biopsy marker for FHL1-associated myopathies R. Phadke, D. Chambers, J. Hudson, L. Feng, C. Timson, D. Johnson, A. Manzur, F. Muntoni, C.A. Sewry Fasciitis frequently accompanies myopathy in acute critical illness muscle wasting: Evidence from qualitative ultrasound and muscle biopsy analysis R. Phadke, Z.A. Puthucheary, J. Rawal, M.J.W. McPhail, P.S. Sidhu, A. Rowlerson, J. Moxham, S. Harridge, N. Hart, H.E. Montgomery The role of simultaneous proximal and distal skin biopsies in the diagnosis of small fibre neuropathy I. Bodi, R. Hadden, P. Bannister, A. Radunovic
9:15
9:30 9:45
10:00
10:15
10:30 – 11:00
Coffee break
11:00 – 12:00
FIFTH SCIENTIFIC SESSION – Neurodegeneration - Beyond Misfolded Proteins Chairs: Isidro Ferrer and James A.R. Nicoll
11:00
Correlation between levels of VEGF and insoluble Aβ1-42 in the cerebral cortex in Alzheimer’s disease T.L. Thomas , J.S. Miners, P.G. Kehoe, S. Love Microinfarcts, small vessel disease and dementia in the population-representative CFAS brain donor cohort P.G. Ince, T. Minett, G. Forster, S.B. Wharton
11:15
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11:30
11:45
12:00
Gene regulation of brain cytokines and mediators of immune response in aging and first stages of sporadic Alzheimer’s disease is not linked to β-amyloid plaques and neurofibrillary tangles but is linked to soluble oligomers I. Ferrer, I. López-González, A. Schlüter, A. Pujol, E. Aso A role for microglia in ageing and dementia D. Boche, T. Minett, J. Classey, F.E. Matthews, M. Fahrenhold, M. Taga, C. Brayne, P.G. Ince, J.A.R. Nicoll, and MRC CFAS Frontal white matter clasmatodendrosis and cognitive dysfunction in the elderly A. Chen, R.O. Akinyemi, K. Washida, V. Foster, M.J. Firbank, A.E. Oakley, Y. Okamoto, J.T. O’Brien, L.M. Allan, M. Ihara, R.N. Kalaria
12.15 – 13:15
Diagnostic Slide Session (Incorporating EQA)
13:15 – 14:30
Lunch and Poster Discussion
14:30 – 16:30
SIXTH SCIENTIFIC SESSION – Miscellaneous Chairs: Seth Love and Raj N Kalaria
14:30
Fine-mapping neurodegenerative milestones in the rTg4510 mouse model of tauopathy S. Meftah, M.A. Ward, S. Wu, T.K. Murray, F.D. Tingley, M. Hayashi, R. Demattos, M.L. Hutton, M.J. O’Neill, Z. Ahmed Comparative clinical, genetic and pathological study of C9orf72 expansion repeat cases P. Gami, C. Murray, L. Schottlaender, C. Bettencourt, E. Mudanohwo, J. Polke, T. Revesz, H. Houlden, T. Lashley Investigating the mechanisms underlying oligodendrocyte dysfunction in C9ORF72 ALS A. Lorente-Pons, J.D. Wood, P.J. Shaw, P.G. Ince, J. Cooper-Knock, A. Ramachandran, J. Kirby, J.R. Highley Complement activation and neurodegeneration in multiple sclerosis grey matter lesions O. W. Howell, S. Loveless, J.W. Neal, M.I. Rees, R. Reynolds, N. Robertson, B. P.Morgan, L. M. Watkins Olfactory pathology in central nervous system demyelinating diseases G.C. DeLuca, A. Joseph, J. George, R.L. Yates, M. Hamard, M. Hofer, M.M. Esiri Normobaric hyperoxia protects against demyelination in an experimental model of pattern III multiple sclerosis lesions R.A. Desai, A.L. Davies, M. Tachrount, X. Golay, K.J. Smith Uncommon prion disease induced in macaque ten years after scrapieinoculation J. Mikol, S. Luccantoni-Freire, E. Correia, N. Lescoutra-Etchegaray, V. Durand, C. Dehen, J.P. Deslys, E. Comoy Dystonia with a difference: unusual pathologic findings in a rare inherited nephrocerebellar syndrome B. Harding, R. Jinks, E. Puffenberger, K. Strauss
14:45
15:00
15:15 15:30 15:45
16.00
16:15
16:30
Announcement of the poster prize winners and closure of the meeting
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POSTER PRESENTATIONS Ageing and Neurodegeneration Profilin 1 in ALS: neuropathology of 3 cases with PFN1 mutations/variants A. King, B. Smith, C. Troakes, C. Vance, A. Al-Chalabi, I. Bodi, S. Maekawa, J. Landers, C.E. Shaw, S. Al-Sarraj
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A reduced astrocyte response to β-amyloid plaques in the ageing brain associates with dementia and cognitive impairment P02 R. Mathur, P.G. Ince, T. Minett, C.J. Garwood, P.J. Shaw, F.E. Matthews, C. Brayne, J.E. Simpson, S.B. Wharton, on behalf of the MRC Cognitive Function and Ageing Neuropathology Study Group Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation A.P. Kiely, H. Ling, Y.T. Asi, E. Kara, P. Limousin, P. Lewis, C. Proukakis, A.H. Schapira, H.R. Morris, S. Lubbe, N. Quinn, S. Love, A.J. Lees, J. Hardy, T. Revesz, H. Houlden, J.L. Holton
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Neuronal senescence as a contributor to neurodegeneration I. Vazquez-Villasenor, J.E. Simpson, C. Garwood, P.G. Ince, P. Heath, S.B. Wharton
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The impact of systemic infection on neuroinflammation in human brain affected by Alzheimer’s disease S. Rakic, J.A.R. Nicoll, S. Love, C. Holmes, V.H. Perry, W. Stewart, D. Boche
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Could the parvopyramidal layer hold clues to protecting neurons from degeneration? C.E. Murray, P. Gami, E. Portelius, J.L. Holton, H. Zetterberg, T. Revesz, T. Lashley
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Beta-propeller protein associated neurodegeneration: neuropathological features R. Paudel, C. Strand, R. Bandopadhyay, R. de Silva, S. Wiethoff, A. Li, H. Houlden, J.L. Holton
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Differential expression of galanin in the basal forebrain in Lewy body disorders A. Alexandris, A.K.L. Liu, R.K.B. Pearce, S.M. Gentleman
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Where is the human nucleus basalis of Meynert? A.K.L. Liu, R.C.C. Chang, R.K.B. Pearce, S.M. Gentleman
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Using quantitative proteomics to investigate commonality between Alzheimer’s disease and hypertension in human brain tissue K.A. Burnett, J.F.R. Paton, P. Kehoe
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Old-age hippocampal sclerosis and Alzheimer’s disease present with similar clinical characteristics: a population-based study S.R.K. Hokkanen, S. Hunter, H.A. Keage, T.M. Polvikoski, F.E. Matthews, C. Brayne
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Characterising the effect of Doxycycline treatment on tau associated degeneration in rTg4510 mice A Fisher, M Heggenes, S Meftah, T Murray, N Colgan, O Ismail, ML Hutton, M Lythgoe, MJ O’Neill, Z Ahmed Intracerebral injections of pathological tau from Alzheimer’s disease or corticobasal degeneration results in cell-type specific tau pathology in PS19 mice S. Boluda, M. Iba, B. Zhang, K.M. Raible, V. M-Y Lee, J.Q. Trojanowski
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Global proteomic profiling of brain leptomeningeal arteries from patients with cerebral amyloid angiopathy reveals novel therapeutic targets P14 A. Manousopoulou, C. Smith, J.A.R. Nicoll, J. Attems, R. Kalaria, H.E. Johnston, C.H. Woelk, R.O. Weller, S.D. Garbis, R.O. Carare α-Synuclein phosphorylation at Ser87 is upregulated by Aβ42 in vitro but reduced in post-mortem brain tissue in dementia with Lewy bodies M.I. Swirski, J.S. Miners, R. de Silva, S. Love Neuropathological diagnostic accuracy of corticobasal degeneration: A review of 140 cases H. Ling, J.L. Holton, K. Davey, E. Gelpi, J. Hedreen, D. Mann, S. Al-Sarraj, G. Kovacs, J. Attems, G. Halliday, S. Love, J. Xuereb, E. Kovari, T Revesz
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Tumours of Central Nervous System Potential markers of tumorigenesis and therapeutic targets in craniopharyngiomas: a study of 74 tumors A. Tauziede-Espariat, M. Polivka, P. de Cremoux, G. Lot, S. Bouazza, D. Bresson, S. Froelich, H. Adle-Biassette
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Giant cell glioblastoma: A study of sixteen cases A. Chakrabarty, F. Malta, C. Loughrey
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BRAF V600E mutations in glioneuronal tumours in epilepsy M. Thom, C. Schneider, B. Paradiso, J. Liu, C. Reeves, A. Jardim, S. An, S. Brandner
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EGFR and EGFRvIII detection in glioblastoma: Methods to select patients for novel individualised therapies C. Faulkner, A. Palmer, H. Williams, C. Wragg, H.R. Haynes, P. White, R. deSouza, M. Williams, K. Hopkins, K.M. Kurian
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A combined strategy for the detection of BRAF fusions in pilocytic astrocytoma using RT-PCR and FISH C. Faulkner; H.P. Ellis, A. Shaw; H.R. Haynes; H. Williams, S. Lowis, M. Williams, K.M. Kurian
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Expression of mesothelioma-related markers in meningiomas: An immunohistochemical study E. Abdelzaher, D.M. Abdallah
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eMolNeuroPath: a new e-learning package focussing on the molecular pathology of brain tumours A. Lawson McLean, D. Wang, J.E. Martin
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Pathology of Skeletal Muscle Using whole-exome sequencing to identify mutations of SQSTM1 and VCP in inclusion body myositis Q. Gang, P. Machado, C. Bettencourt, S. Brady, E. Healy, M. Parton, J.L. Holton, D. Hilton-Jones, M.G. Hanna, H. Houlden &The Muscle Study Group and The International IBM Genetics Consortium
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Adult onset Pompe’s disease with LGMD phenotype J.B. Cryan, R. Walsh, S. Lefter, M. Farrell
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Extensive genetic investigation in recurrent rhabdomyolysis and vacuolar myopathy: An undiagnosed case report R.S. Scalco, A. Gardiner, R. Godfrey, S.E. Olpin, R. Kirk, A. Majumdar, E. Murphy, H. Houlden, J.L. Holton, R. Quinlivan Pathological evaluation of myopathies with tubular aggregates and cylindrical spirals S. Brady, E.G. Healy, Q. Gang, B. White, S. Jacob, H. Houlden, J.L. Holton B cells correlate with histological and clinical features of muscle disease in patients with juvenile dermatomyositis S.A. Yasin, E. Sag, K. Arnold, C. Sawali, J.L. Holton, T.S. Jacques, L.R. Wedderburn Tubuloreticular inclusions in juvenile dermatomyositis: A diagnostically useful marker? S.A. Yasin, E. Sag, K. Arnold, G. Anderson, J.L. Holton, L.R. Wedderburn, T.S. Jacques Dramatic and sustained response to rituximab therapy in anti-SRP related myopathy with additional mitochondrial features E. Matthews, M. Parton, R. Phadke
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Confusing muscle pathology in a child with distal weakness C.A. Sewry, L. Feng, R. Phadke, J. Poulton, I. Zaharieva, S. Robb, A. Manzur, F. Muntoni
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Juvenile dermatomyositis: Report of three cases V. Papa, B. Romanin, R. Bergamaschi, C. Ceccarelli, R. Salaroli, L. Badiali De Giorgi, G. Cenacchi
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Diagnostic Neuropathology Isolated pituitary IgG4-related autoimmune disease (IgG4-RD hypophysitis): A rare entity A. Merve, A. Ramsay, M. Galloway, N. Dorward, R. Phadke
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Neuropathological findings in Bardet-Biedl syndrome T.S. Jacques, E. Forsythe, S. Christou-Savina, M. Hayes, P. Beales
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Spinal intradural nerve sheath myxoma M. Aizpurua, B. Cheserem, R. Gullen, I. Bodi
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Malignant transformation in a desmoplastic non-infantile ganglioglioma M. Aizpurua, I. Bodi, R. Laxton, C. Chandler, S. Al-Sarraj
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Widespread neurotropic dissemination of metastatic pulmonary adenocarcinoma with EGFR insertion mutation (p.Asp770_Asn771insGly) U. Pohl, K. Tarver, A. Misbahuddin
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Bilateral trigeminal sensory ganglioneuropathy, sensory axonal and autonomic neuropathy in Hodgkin lymphoma: a new paraneoplastic syndrome? W.J. Zhang, J.H. Rees, R. Phadke
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Spindle cell cerebellar pseudotumour due to Mycobacterium Avium (MA) in a non-AIDS patient C. Keohane, A. Beausang, D. Corcoran, M. Lim, C. Lim, N. Bermingham
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Fatal cerebellar haemorrhage in 2 premature infants without germinal matrix haemorrhage A. Beausang, N. Bermingham, B. Fitzgerald, C. Keohane
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Miscellaneous The role of the Merlin tumour suppressor in the developing and injured adult peripheral nerve T. Mindos, S. Roberts, R. Doddrell, G. Mortimer, XP. Dun, P. Edwards, A. Shivane, D. Parkinson
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Control tissue in brain banking: The importance of thorough neuropathological assessment M. Nolan, C. Troakes, A. King, I. Bodi, S. Al-Sarraj
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Mapping synaptic diversity in the human brain O.E. Curran, C Smith, S.G.N. Grant
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The mechanism and clinical-pathological correlation of traumatic diffuse axonal injury (TDAI) in assaults S. Al-Sarraj, V. Fitzpatrick-Swallow, R. Laxton, M. Biggs, N. Cary, R. Chapman, A. Fegan-Earl, S. Hamilton, F. Hollingbury, N. Hunt, P Jerreat, A. Kolar, S. Poole, B. Swift
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Prion protein protease sensitivity, stability and seeding activity in variably protease sensitive prionopathy suggests molecular overlaps with sporadic Creutzfeldt-Jakob disease A.H. Peden, D.P. Sarode, C.R. Mulholland, M.A. Barria, D.L. Ritchie, J.W. Ironside, M.W. Head
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Neuroinflammation, blood brain barrier disruption and acute neuronal injury in the amygdala in SUDEP D. Obari, Z. Michalak, M. Thom, S. Sisodiya
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A study of glial differentiation in pericyte-like cells in human cortical injuries A. Prada-Jardim, J.Y.W. Liu, C. Reeves, S.M. Sisodiya, M. Thom
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Localization of complement proteins as potential biomarkers of inflammation in Multiple Sclerosis using tissue microarray methodology O. Howell, S. Loveless, L. Watkins, N. Robertson, J. Neal, B. Morgan
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Symposium Programme: Recent Advances in Muscle Disease Chairs: Professor Caroline Sewry and Professor Janice Holton UCL Institute of Child Health and UCL Institute of Neurology 13:00
Registration
14:00
Welcome and introduction – Caroline Sewry, UCL Institute of Child Health, London, UK
14:15
Advances in the treatment of muscle diseases Professor Francesco Muntoni, UCL Institute of Child Health, London, UK Protein aggregate myopathies: An update Professor Rolf Schroder, University Hospital Erlangen, Erlangen, Germany Autoantibodies in juvenile myositis: Associations, predictions and subphenotypes Professor Lucy Wedderburn, UCL Institute of Child Health, London, UK
14:45 15:15 15.45
Coffee Break
16:15
Neurodevelopmental, neurodegenerative and neuromuscular disorders due to defects in membrane trafficking and autophagy Dr Heinz Jungbluth, Guy’s and St Thomas’ NHS Foundation Trust, and King’s College, London, UK Stem cell research in muscle disease Professor Jenny Morgan, UCL Institute of Child Health, London, UK
16:45 17:15
Coffee break
17:30
Alfred Meyer Memorial Lecture Professor Doug Turnbull, Newcastle University, Newcastle upon Tyne, UK Advances in mitochondrial disease and new therapies
18:30
RECEPTION
2
THURSDAY 5th MARCH 2015 08:00 08:50
Registration Opening of meeting – Seth Love, BNS President
09:00 – 10:45
FIRST SCIENTIFIC SESSION – Neuropathology of Neurodegeneration Chairs: Paul G. Ince and Johannes Attems
9:00
The effect of hypertension and anti-hypertensive treatment on Aβ plaque load and on β- and γ-secretase activity in the frontal cortex E.L. Ashby, J.S. Miners, E. Dale, S. Love, P.G. Kehoe The role of tau in the pathological process and clinical expression of Huntington’s disease R. Vuono, S. Winder-Rhodes, R. de Silva, G. Cisbani, J. Drouin-Ouellet, M.G. Spillantini, F. Cicchetti, R.A. Barker A cell-based biosensor for pathological tau uptake and aggregation B. Hapuarachchi, M. Roberts, J. Staddon, T. Warner, R. de Silva The presence of heterogeneous nuclear ribonucleoproteins in frontotemporal dementia with FUS positive inclusions T. Lashley, P. Gami, R. Bandopadhyay, T. Revesz Accumulation of α-synuclein in dementia with Lewy bodies is associated with decline in the α-synuclein-degrading enzymes kallikrein-6, calpain-1 and endothelin-converting enzyme-1 and -2 J.S. Miners, S. Love Mitochondrial dysfunction in Parkinson’s disease: Is it the earliest feature? C.E. Murray, S.N. Pressey, W.E. Heywood, I.P. Hargreaves, V. Neergheen, S. Wauters, M. Palkovits, E. Gelpi, C. Troakes, S.M. Gentleman, K. Mills, J.L. Holton, T. Revesz, S. Gandhi Sub-regional nucleus basalis of Meynert pathology in Lewy body disorders A.K.L. Liu, R.C.C. Chang, R.K.B. Pearce, S.M. Gentleman
9:15
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10:00
10:15
10:30 10:45 – 11:15
Coffee break
11:15 – 12:45
SECOND SCIENTIFIC SESSION – Tumours of the Central Nervous System Chair: Silvia Marino and David W. Ellison
11:15
Infant posterior fossa ependymoma comprises two molecular subgroups D.W. Ellison, K.W. Pajtler, T. Lin, S.M. Pfi ster, T. Merchant, A. Korshunov Establishing a diagnostic pipeline for methylome analysis of paediatric and adult brain tumours in the UK using the Heidelberg classifier S. Brandner, Z. Jaunmuktane, T. J. Stone, J. Chalker, M. Hubank, T.S. Jacques c-Myc is expressed in a proportion of human choroid plexus tumours and its overexpression in the developing mouse CNS induces choroid plexus tumorigenesis A. Merve, X. Zhang, S. Acquati, S. Marino Glioneuronal tumours: Classification, outcome and molecular genetics T.J. Stone, A. Keeley, A. Virasami, W. Harkness, M. Tisdall, D. Hargrave, M. Hubank, J.H. Cross, J. Ham, T.S. acques Prognostic and therapeutic markers in chordomas: A study of 287 tumors A. Tauziede-Espariat , M. Polivka, F. Labrousse, E. Aronica, S. Bouazza, H. Salle, A. Laquerriere, S. Froelich, H. Adle-Biassette The biological behaviour and prognosis of anaplastic oligodendroglioma with necrosis R. C. Laxton, M. Aizpurua, L. Doey, I. Bodi, A. King, R. Bhangoo, R. Beaney, L. Brazil, K. Ashkan, S. Al-Sarraj
11:30
11:45
12:00
12:15
12:30
12:45 – 14:00
Lunch and Poster Discussion
14:00
THE CAVANAGH PRIZE LECTURE Chair: Seth Love Development of molecular markers for brain tumour classification David Capper - University of Heidelberg
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THIRD SCIENTIFIC SESSION – Neuropathology of Epilepsy Chair: Thomas Jacques and Maria Thom
15:00
A review of primary and secondary neuropathological changes in autopsy epileptic brains O. Adegbaju, I. Bodi, M. Honavar, S. Al-Sarraj Identifying novel cell types in focal cortical dysplasia by gene network analysis F. Scerif, S.R. Picker, S.A. Yasin, A. Virasami, A. Alahdal, W. Harkness, M. Tisdall, F. Guillemot, S.M.L. Paine, J.H. Cross, T.S. Jacques Distribution of nestin and doublecortin expressing cells in temporal lobe epilepsy with hippocampal sclerosis M. Thom, J. Liu, C. Reeves, M. Matarin, S. Sisodiya Combined ex-vivo 9.4Tesla MRI and quantitative histopathological study in normal and pathological surgical resections in focal epilepsy C. Reeves , M. Tachrount, D. Thomas, Z. Michalak, J. Liu, M. Ellis, S. Eriksson, T. Yousry, M. Thom
15:15
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16:00 – 16:30
Coffee Break
16:30 – 17:30
BUSINESS MEETING
17:30 – 18:30
PROFESSIONAL AFFAIRS MEETING
19:30
SOCIETY DINNER AT THE HONOURABLE SOCIETY OF LINCOLN’S INN Southeast corner of Lincoln’s Inn Fields, junction with Serle Street, WC2A 3TL http://www.lincolnsinn.org.uk
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FRIDAY 6th MARCH 2015 9:00 – 10:30
FOURTH SCIENTIFIC SESSION – Pathology of Skeletal Muscle and Nerves Chairs: Caroline A. Sewry and Janice L. Holton
9:00
Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy W. Stenzel, C. Preuße, Y. Allenbach, D. Pehl, R. Junckerstorff, E. Aronica, E. Rushing, O. Benveniste, J. Weis, H-H. Goebel Sub-phenotyping of juvenile dermatomyositis C.T. Deakin, S.A. Yasin, K. Arnold, S.L. Tansley, Z.E. Betteridge, N.J. McHugh, J.L. Holton, T.S. Jacques, C. Pilkington, M. De Iorio, L.R. Wedderburn Congenital myopathy with Lamin A/C mutation J.L. Rinnenthal, A. Hucko, M. Schuelke, H.H. Goebel, W. Stenzel Unique brick-red auto-fluorescence of reducing bodies and protein aggregates is a useful diagnostic biopsy marker for FHL1-associated myopathies R. Phadke, D. Chambers, J. Hudson, L. Feng, C. Timson, D. Johnson, A. Manzur, F. Muntoni, C.A. Sewry Fasciitis frequently accompanies myopathy in acute critical illness muscle wasting: Evidence from qualitative ultrasound and muscle biopsy analysis R. Phadke, Z.A. Puthucheary, J. Rawal, M.J.W. McPhail, P.S. Sidhu, A. Rowlerson, J. Moxham, S. Harridge, N. Hart, H.E. Montgomery The role of simultaneous proximal and distal skin biopsies in the diagnosis of small fibre neuropathy I. Bodi, R. Hadden, P. Bannister, A. Radunovic
9:15
9:30 9:45
10:00
10:15
10:30 – 11:00
Coffee break
11:00 – 12:00
FIFTH SCIENTIFIC SESSION – Neurodegeneration - Beyond Misfolded Proteins Chairs: Isidro Ferrer and James A.R. Nicoll
11:00
Correlation between levels of VEGF and insoluble Aβ1-42 in the cerebral cortex in Alzheimer’s disease T.L. Thomas , J.S. Miners, P.G. Kehoe, S. Love Microinfarcts, small vessel disease and dementia in the population-representative CFAS brain donor cohort P.G. Ince, T. Minett, G. Forster, S.B. Wharton
11:15
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11:30
11:45
12:00
Gene regulation of brain cytokines and mediators of immune response in aging and first stages of sporadic Alzheimer’s disease is not linked to β-amyloid plaques and neurofibrillary tangles but is linked to soluble oligomers I. Ferrer, I. López-González, A. Schlüter, A. Pujol, E. Aso A role for microglia in ageing and dementia D. Boche, T. Minett, J. Classey, F.E. Matthews, M. Fahrenhold, M. Taga, C. Brayne, P.G. Ince, J.A.R. Nicoll, and MRC CFAS Frontal white matter clasmatodendrosis and cognitive dysfunction in the elderly A. Chen, R.O. Akinyemi, K. Washida, V. Foster, M.J. Firbank, A.E. Oakley, Y. Okamoto, J.T. O’Brien, L.M. Allan, M. Ihara, R.N. Kalaria
12.15 – 13:15
Diagnostic Slide Session (Incorporating EQA)
13:15 – 14:30
Lunch and Poster Discussion
14:30 – 16:30
SIXTH SCIENTIFIC SESSION – Miscellaneous Chairs: Seth Love and Raj N Kalaria
14:30
Fine-mapping neurodegenerative milestones in the rTg4510 mouse model of tauopathy S. Meftah, M.A. Ward, S. Wu, T.K. Murray, F.D. Tingley, M. Hayashi, R. Demattos, M.L. Hutton, M.J. O’Neill, Z. Ahmed Comparative clinical, genetic and pathological study of C9orf72 expansion repeat cases P. Gami, C. Murray, L. Schottlaender, C. Bettencourt, E. Mudanohwo, J. Polke, T. Revesz, H. Houlden, T. Lashley Investigating the mechanisms underlying oligodendrocyte dysfunction in C9ORF72 ALS A. Lorente-Pons, J.D. Wood, P.J. Shaw, P.G. Ince, J. Cooper-Knock, A. Ramachandran, J. Kirby, J.R. Highley Complement activation and neurodegeneration in multiple sclerosis grey matter lesions O. W. Howell, S. Loveless, J.W. Neal, M.I. Rees, R. Reynolds, N. Robertson, B. P.Morgan, L. M. Watkins Olfactory pathology in central nervous system demyelinating diseases G.C. DeLuca, A. Joseph, J. George, R.L. Yates, M. Hamard, M. Hofer, M.M. Esiri Normobaric hyperoxia protects against demyelination in an experimental model of pattern III multiple sclerosis lesions R.A. Desai, A.L. Davies, M. Tachrount, X. Golay, K.J. Smith Uncommon prion disease induced in macaque ten years after scrapieinoculation J. Mikol, S. Luccantoni-Freire, E. Correia, N. Lescoutra-Etchegaray, V. Durand, C. Dehen, J.P. Deslys, E. Comoy Dystonia with a difference: unusual pathologic findings in a rare inherited nephrocerebellar syndrome B. Harding, R. Jinks, E. Puffenberger, K. Strauss
14:45
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Announcement of the poster prize winners and closure of the meeting
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POSTER PRESENTATIONS Ageing and Neurodegeneration Profilin 1 in ALS: neuropathology of 3 cases with PFN1 mutations/variants A. King, B. Smith, C. Troakes, C. Vance, A. Al-Chalabi, I. Bodi, S. Maekawa, J. Landers, C.E. Shaw, S. Al-Sarraj
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A reduced astrocyte response to β-amyloid plaques in the ageing brain associates with dementia and cognitive impairment P02 R. Mathur, P.G. Ince, T. Minett, C.J. Garwood, P.J. Shaw, F.E. Matthews, C. Brayne, J.E. Simpson, S.B. Wharton, on behalf of the MRC Cognitive Function and Ageing Neuropathology Study Group Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation A.P. Kiely, H. Ling, Y.T. Asi, E. Kara, P. Limousin, P. Lewis, C. Proukakis, A.H. Schapira, H.R. Morris, S. Lubbe, N. Quinn, S. Love, A.J. Lees, J. Hardy, T. Revesz, H. Houlden, J.L. Holton
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Neuronal senescence as a contributor to neurodegeneration I. Vazquez-Villasenor, J.E. Simpson, C. Garwood, P.G. Ince, P. Heath, S.B. Wharton
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The impact of systemic infection on neuroinflammation in human brain affected by Alzheimer’s disease S. Rakic, J.A.R. Nicoll, S. Love, C. Holmes, V.H. Perry, W. Stewart, D. Boche
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Could the parvopyramidal layer hold clues to protecting neurons from degeneration? C.E. Murray, P. Gami, E. Portelius, J.L. Holton, H. Zetterberg, T. Revesz, T. Lashley
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Beta-propeller protein associated neurodegeneration: neuropathological features R. Paudel, C. Strand, R. Bandopadhyay, R. de Silva, S. Wiethoff, A. Li, H. Houlden, J.L. Holton
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Differential expression of galanin in the basal forebrain in Lewy body disorders A. Alexandris, A.K.L. Liu, R.K.B. Pearce, S.M. Gentleman
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Where is the human nucleus basalis of Meynert? A.K.L. Liu, R.C.C. Chang, R.K.B. Pearce, S.M. Gentleman
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Using quantitative proteomics to investigate commonality between Alzheimer’s disease and hypertension in human brain tissue K.A. Burnett, J.F.R. Paton, P. Kehoe
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Old-age hippocampal sclerosis and Alzheimer’s disease present with similar clinical characteristics: a population-based study S.R.K. Hokkanen, S. Hunter, H.A. Keage, T.M. Polvikoski, F.E. Matthews, C. Brayne
P11
Characterising the effect of Doxycycline treatment on tau associated degeneration in rTg4510 mice A Fisher, M Heggenes, S Meftah, T Murray, N Colgan, O Ismail, ML Hutton, M Lythgoe, MJ O’Neill, Z Ahmed Intracerebral injections of pathological tau from Alzheimer’s disease or corticobasal degeneration results in cell-type specific tau pathology in PS19 mice S. Boluda, M. Iba, B. Zhang, K.M. Raible, V. M-Y Lee, J.Q. Trojanowski
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Global proteomic profiling of brain leptomeningeal arteries from patients with cerebral amyloid angiopathy reveals novel therapeutic targets P14 A. Manousopoulou, C. Smith, J.A.R. Nicoll, J. Attems, R. Kalaria, H.E. Johnston, C.H. Woelk, R.O. Weller, S.D. Garbis, R.O. Carare α-Synuclein phosphorylation at Ser87 is upregulated by Aβ42 in vitro but reduced in post-mortem brain tissue in dementia with Lewy bodies M.I. Swirski, J.S. Miners, R. de Silva, S. Love Neuropathological diagnostic accuracy of corticobasal degeneration: A review of 140 cases H. Ling, J.L. Holton, K. Davey, E. Gelpi, J. Hedreen, D. Mann, S. Al-Sarraj, G. Kovacs, J. Attems, G. Halliday, S. Love, J. Xuereb, E. Kovari, T Revesz
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Tumours of Central Nervous System Potential markers of tumorigenesis and therapeutic targets in craniopharyngiomas: a study of 74 tumors A. Tauziede-Espariat, M. Polivka, P. de Cremoux, G. Lot, S. Bouazza, D. Bresson, S. Froelich, H. Adle-Biassette
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Giant cell glioblastoma: A study of sixteen cases A. Chakrabarty, F. Malta, C. Loughrey
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BRAF V600E mutations in glioneuronal tumours in epilepsy M. Thom, C. Schneider, B. Paradiso, J. Liu, C. Reeves, A. Jardim, S. An, S. Brandner
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EGFR and EGFRvIII detection in glioblastoma: Methods to select patients for novel individualised therapies C. Faulkner, A. Palmer, H. Williams, C. Wragg, H.R. Haynes, P. White, R. deSouza, M. Williams, K. Hopkins, K.M. Kurian
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A combined strategy for the detection of BRAF fusions in pilocytic astrocytoma using RT-PCR and FISH C. Faulkner; H.P. Ellis, A. Shaw; H.R. Haynes; H. Williams, S. Lowis, M. Williams, K.M. Kurian
P21
Expression of mesothelioma-related markers in meningiomas: An immunohistochemical study E. Abdelzaher, D.M. Abdallah
P22
eMolNeuroPath: a new e-learning package focussing on the molecular pathology of brain tumours A. Lawson McLean, D. Wang, J.E. Martin
P23
Pathology of Skeletal Muscle Using whole-exome sequencing to identify mutations of SQSTM1 and VCP in inclusion body myositis Q. Gang, P. Machado, C. Bettencourt, S. Brady, E. Healy, M. Parton, J.L. Holton, D. Hilton-Jones, M.G. Hanna, H. Houlden &The Muscle Study Group and The International IBM Genetics Consortium
P24
Adult onset Pompe’s disease with LGMD phenotype J.B. Cryan, R. Walsh, S. Lefter, M. Farrell
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Extensive genetic investigation in recurrent rhabdomyolysis and vacuolar myopathy: An undiagnosed case report R.S. Scalco, A. Gardiner, R. Godfrey, S.E. Olpin, R. Kirk, A. Majumdar, E. Murphy, H. Houlden, J.L. Holton, R. Quinlivan Pathological evaluation of myopathies with tubular aggregates and cylindrical spirals S. Brady, E.G. Healy, Q. Gang, B. White, S. Jacob, H. Houlden, J.L. Holton B cells correlate with histological and clinical features of muscle disease in patients with juvenile dermatomyositis S.A. Yasin, E. Sag, K. Arnold, C. Sawali, J.L. Holton, T.S. Jacques, L.R. Wedderburn Tubuloreticular inclusions in juvenile dermatomyositis: A diagnostically useful marker? S.A. Yasin, E. Sag, K. Arnold, G. Anderson, J.L. Holton, L.R. Wedderburn, T.S. Jacques Dramatic and sustained response to rituximab therapy in anti-SRP related myopathy with additional mitochondrial features E. Matthews, M. Parton, R. Phadke
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Confusing muscle pathology in a child with distal weakness C.A. Sewry, L. Feng, R. Phadke, J. Poulton, I. Zaharieva, S. Robb, A. Manzur, F. Muntoni
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Juvenile dermatomyositis: Report of three cases V. Papa, B. Romanin, R. Bergamaschi, C. Ceccarelli, R. Salaroli, L. Badiali De Giorgi, G. Cenacchi
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Diagnostic Neuropathology Isolated pituitary IgG4-related autoimmune disease (IgG4-RD hypophysitis): A rare entity A. Merve, A. Ramsay, M. Galloway, N. Dorward, R. Phadke
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Neuropathological findings in Bardet-Biedl syndrome T.S. Jacques, E. Forsythe, S. Christou-Savina, M. Hayes, P. Beales
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Spinal intradural nerve sheath myxoma M. Aizpurua, B. Cheserem, R. Gullen, I. Bodi
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Malignant transformation in a desmoplastic non-infantile ganglioglioma M. Aizpurua, I. Bodi, R. Laxton, C. Chandler, S. Al-Sarraj
P36
Widespread neurotropic dissemination of metastatic pulmonary adenocarcinoma with EGFR insertion mutation (p.Asp770_Asn771insGly) U. Pohl, K. Tarver, A. Misbahuddin
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Bilateral trigeminal sensory ganglioneuropathy, sensory axonal and autonomic neuropathy in Hodgkin lymphoma: a new paraneoplastic syndrome? W.J. Zhang, J.H. Rees, R. Phadke
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Spindle cell cerebellar pseudotumour due to Mycobacterium Avium (MA) in a non-AIDS patient C. Keohane, A. Beausang, D. Corcoran, M. Lim, C. Lim, N. Bermingham
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Fatal cerebellar haemorrhage in 2 premature infants without germinal matrix haemorrhage A. Beausang, N. Bermingham, B. Fitzgerald, C. Keohane
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Miscellaneous The role of the Merlin tumour suppressor in the developing and injured adult peripheral nerve T. Mindos, S. Roberts, R. Doddrell, G. Mortimer, XP. Dun, P. Edwards, A. Shivane, D. Parkinson
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Control tissue in brain banking: The importance of thorough neuropathological assessment M. Nolan, C. Troakes, A. King, I. Bodi, S. Al-Sarraj
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Mapping synaptic diversity in the human brain O.E. Curran, C Smith, S.G.N. Grant
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The mechanism and clinical-pathological correlation of traumatic diffuse axonal injury (TDAI) in assaults S. Al-Sarraj, V. Fitzpatrick-Swallow, R. Laxton, M. Biggs, N. Cary, R. Chapman, A. Fegan-Earl, S. Hamilton, F. Hollingbury, N. Hunt, P Jerreat, A. Kolar, S. Poole, B. Swift
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Prion protein protease sensitivity, stability and seeding activity in variably protease sensitive prionopathy suggests molecular overlaps with sporadic Creutzfeldt-Jakob disease A.H. Peden, D.P. Sarode, C.R. Mulholland, M.A. Barria, D.L. Ritchie, J.W. Ironside, M.W. Head
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Neuroinflammation, blood brain barrier disruption and acute neuronal injury in the amygdala in SUDEP D. Obari, Z. Michalak, M. Thom, S. Sisodiya
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A study of glial differentiation in pericyte-like cells in human cortical injuries A. Prada-Jardim, J.Y.W. Liu, C. Reeves, S.M. Sisodiya, M. Thom
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Localization of complement proteins as potential biomarkers of inflammation in Multiple Sclerosis using tissue microarray methodology O. Howell, S. Loveless, L. Watkins, N. Robertson, J. Neal, B. Morgan
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