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John Hardy, PhD, right, accepted the 2015 Robert A. Pritzker Prize from MJFF VP Brian Fiske, PhD, and Michael J. Fox on April 15.

John Hardy awarded 2015 Robert A. Pritzker Prize for Leadership in Parkinson's Research

One of the UK Parkinson's Disease Consortium Principal Investigators, Prof John Hardy, has been awarded the 2015 Robert A. Pritzker Prize for his leadership in Parkinson's genetics research. The award was presented by Michael J. Fox at a ceremony in New York on April 15. From the Michael J. Fox Foundation website: More...

Webcast - Prof Nicholas Wood - Advances in Genetic Understanding of Parkinson's Disease.

Video: Advances in Genetic Understanding of Parkinson's Disease

Webcast of the presentation entitled ‘Advances in Genetic Understanding of Parkinson's Disease’ given by Nicholas Wood (University College London, United Kingdom) presented at the Biochemical Society Hot Topic event, PINK1-Parkin Signalling in Parkinson’s Disease and Beyond, held in December 2014. More...

Pedigrees and I-FP-CIT SPECT scan images of the four families with GCH1 mutations involved in this study.

GCH1 gene and Parkinson's risk

A study published in Brain, led by researchers at UCL Institute of Neurology, has shown that genetic mutations which cause a decrease in dopamine production in the brain and lead to a form of childhood-onset Dystonia, also play a role in the development of Parkinson’s disease.
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Leonard Wolfson Experimental Neurology Centre (LWENC)

The new Leonard Wolfson Experimental Neurology Centre (LWENC) has opened for clinical studies and trials

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Audioslide presentation on Claudia Manzoni's paper examining how fibroblasts with LRRK2 mutations react to starvation conditions and the possible deficits that they have in autophagy.

LRRK2 and autophagy in fibroblasts

In this paper Claudia Manzoni studies how fibroblast cells from people with Parkinson’s disease caused by mutations in LRRK2 react to starvation. Although the changes are quite subtle, there are differences between the way that fibroblasts that contain mutant LRRK2 respond to being starved – suggesting that there may be changes in the way that these cells regulate a key process called autophagy (a term which comes from the greek meaning to eat yourself, and is one of the ways that cells get rid of waste and recycle proteins and organellles).
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Rohan de Silva

(Reader)

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Born in Sri Lanka, Rohan obtained his degree in Biochemistry in 1987 (Universität Bern, Switzerland) and a D.Phil. in Molecular Biology, 1991 (Oxford University).  From 1991-1995 he worked at Duke University Medical Center, North Carolina (genetics of Alzheimer’s Disease), where he was involved with the first identification of mutations in the presenilin-1 gene and, in collaboration with the late Dr Tsunao Saitoh (UCSD) first identified promoter variants of the alpha-synuclein gene (SNCA) that are now associated with Parkinson’s disease risk. In 1995-1996, he briefly worked at the Marie Curie Research Institute in Oxted, Surrey (genetics of bladder cancer) and 1996-1999 at Imperial College School of Medicine (investigation of role of cytokines in amyloid precursor protein gene expression and splicing). Since 1999 he has been at the RLWI  where he has been working on the genetics, biochemistry and cell biology of Parkinson’s disease, progressive supranuclear palsy and related disorders. His primary interests are the investigation of the tau (MAPT) and SNCA genes and their roles in neurodegeneration.

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Number of items: 157.

2015

Hapuarachchi, B; Roberts, M; Staddon, J; Warner, T; de Silva, R; (2015) A cell-based biosensor for pathological tau uptake and aggregation. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 9 - 10).

Magdalinou, NK; Paterson, RW; Schott, JM; Fox, NC; Mummery, C; Blennow, K; Bhatia, K; (2015) A panel of nine cerebrospinal fluid biomarkers may identify patients with atypical parkinsonian syndromes. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2014-309562.

Paudel, R; Strand, C; Bandopadhyay, R; de Silva, R; Wiethoff, S; Li, A; Houlden, H; (2015) Beta-propeller protein associated neurodegeneration: Neuropathological features. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 33 - 34).

Schottlaender, LV; Polke, JM; Ling, H; MacDoanld, ND; Tucci, A; Nanji, T; Pittman, A; (2015) The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. Neurobiol Aging , 36 (2) 1221.e1 - 1221.e6. 10.1016/j.neurobiolaging.2014.08.024. Green open access
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Schottlaender, LV; Polke, JM; Ling, H; Tucci, A; Nanji, T; Pittman, A; de Silva, R; (2015) The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. Neurobiology of Aging , 36 (2) 1221.e1 - 1221.e6. 10.1016/j.neurobiolaging.2014.08.024.

Swirski, MI; Miners, JS; de Silva, R; Love, S; (2015) alpha-Synuclein phosphorylation at Ser87 is upregulated by A beta 42 in vitro but reduced in post-mortem brain tissue in dementia with Lewy bodies. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 38 - 38).

Vuono, R; Winder-Rhodes, S; de Silva, R; Cisbani, G; Drouin-Ouellet, J; Spillantini, MG; Cicchetti, F; (2015) The role of tau in the pathological process and clinical expression of Huntington's disease. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 8 - 9).

2014

Beck, J; Pittman, A; Adamson, G; Campbell, T; Kenny, J; Houlden, H; Rohrer, JD; (2014) Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiol Aging , 35 (1) 261 - 265. 10.1016/j.neurobiolaging.2013.07.017.

Cortese, A; Brady, S; Greensmith, L; Holton, J; Hanna, MG; Fisher, EMC; Fratta, P; (2014) Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy. Neurobiology of Aging , 35 (6) 1491 - 1498. 10.1016/j.neurobiolaging.2013.12.029.

Ferrari, R; Momeni, P; Simone, R; Nicolaou, N; Hondhamuni, G; Vandrovcova, J; Lees, AJ; (2014) Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. Neurobiology of Aging , 35 (6) 10.1016/j.neurobiolaging.2014.01.010.

Ling, H; Lees, A; Kara, E; de Silva, R; Li, A; Kiely, A; Courtney, R; (2014) Slowly progressive L-dopa responsive parkinsonism with neurofibrillary tangle pathology: A new clinicopathological entity? In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 13 - 13).

Ling, H; de Silva, R; Massey, LA; Courtney, R; Hondhamuni, G; Bajaj, N; Lowe, J; (2014) Characteristics of progressive supranuclear palsy presenting with corticobasal syndrome: a cortical variant. Neuropathol Appl Neurobiol , 40 (2) 149 - 163. 10.1111/nan.12037. Green open access
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Miners, S; Moulding, H; de Silva, R; Love, S; (2014) Reduced vascular endothelial growth factor and capillary density in the occipital cortex in dementia with Lewy bodies. Brain Pathol , 24 (4) 334 - 343. 10.1111/bpa.12130.

Ramasamy, A; Trabzuni, D; Guelfi, S; Varghese, V; Smith, C; Walker, R; De, T; (2014) Genetic variability in the regulation of gene expression in ten regions of the human brain. Nat Neurosci , 17 (10) 1418 - 1428. 10.1038/nn.3801.

Swirski, M; Miners, JS; de Silva, R; Lashley, T; Ling, H; Holton, J; Revesz, T; (2014) Evaluating the relationship between amyloid-β and α-synuclein phosphorylated at Ser129 in dementia with Lewy bodies and Parkinson's disease. Alzheimer's Research & Therapy , 6 (5-8) , Article 77. 10.1186/s13195-014-0077-y. Green open access
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Swirski, MI; Miners, JS; de Silva, R; Love, S; (2014) A beta-induced phosphorylation of alpha-synuclein at serine 129. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 11 - 11).

2013

Klebe, S; Golmard, JL; Nalls, MA; Saad, M; Singleton, AB; Bras, JM; Hardy, J; (2013) The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. Journal of Neurology, Neurosurgery and Psychiatry , 84 (6) 666 - 673. 10.1136/jnnp-2012-304475. Green open access
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Liang, Y; Gordon, E; Rohrer, J; Downey, L; de Silva, R; Jäger, HR; Nicholas, J; (2013) A cognitive chameleon: Lessons from a novel MAPT mutation case. Neurocase 10.1080/13554794.2013.826697. Green open access
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Majounie, E; Cross, W; Newsway, V; Owen, MJ; O'Donovan, MC; Morris, HR; Dillman, A; (2013) Variation in tau isoform expression in different brain regions and disease states. Neurobiology of Aging , 34 (7) 10.1016/j.neurobiolaging.2013.01.017.

Stutzbach, LD; Xie, SX; Naj, AC; Albin, R; Gilman, S; PSP Genetics Study Group, ; Lee, VM; (2013) The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease. Acta Neuropathol Commun , 1 (1) 31 - ?. 10.1186/2051-5960-1-31.

Swirski, MI; Miners, JS; de Silva, R; Love, S; (2013) A beta may promote the formation of Lewy bodies by increasing phosphorylation of alpha-synuclein at Ser129. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 12 - 13).

Trabzuni, D; Ryten, M; Emmett, W; Ramasamy, A; Lackner, KJ; Zeller, T; Walker, R; (2013) Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 Locus. PLOS ONE , 8 (8) , Article e70724. 10.1371/journal.pone.0070724. Green open access
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2012

Kara, E; Ling, H; Pittman, AM; Shaw, K; de Silva, R; Simone, R; Holton, JL; (2012) The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobioly of Aging , 33 (9) 2231.e7 - 2231.e14. 10.1016/j.neurobiolaging.2012.04.006. Green open access
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Lace, G; Ince, PG; Brayne, C; Savva, GM; Matthews, FE; de Silva, R; Simpson, JE; (2012) Mesial temporal astrocyte tau pathology in the MRC-CFAS ageing brain cohort. Dement Geriatr Cogn Disord , 34 (1) 15 - 24. 10.1159/000341581.

Luk, C; Compta, Y; Magdalinou, N; Marti, MJ; Hondhamuni, G; Zetterberg, H; Blennow, K; (2012) Development and assessment of sensitive immuno-PCR assays for the quantification of cerebrospinal fluid three- and four-repeat tau isoforms in tauopathies. Journal of Neurochemistry 10.1111/j.1471-4159.2012.07911.x.

Trabzuni, D; Wray, S; Vandrovcova, J; Ramasamy, A; Walker, R; Smith, C; Luk, C; (2012) MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Human Molecular Genetics , 21 (18) 4094 -4103. 10.1093/hmg/dds238. Green open access
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2011

Ahmed, Z; Doherty, K; Silveira-Moriyama, L; Bandopadhyay, R; Lashley, T; Mamais, A; Hondhamuni, G; (2011) GLOBULAR GLIAL TAUOPATHIES: AN EMERGING GROUP OF 4-REPEAT TAUOPATHIES PRESENTING WITH MOTOR NEURON DISEASE OR FRONTOTEMPORAL DEMENTIA. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 22 - 22). WILEY-BLACKWELL

Ahmed, Z; Doherty, K; Silveira-Moriyama, L; Bandopadhyay, R; Lashley, T; Newcombe, J; O'sullivan, SS; (2011) Clinicopathological comparison of globular glial tauopathies presenting with motor neuron disease or frontotemporal dementia: An emerging group of 4-repeat tauopathies. In: MOVEMENT DISORDERS. (pp. S328 - S329).

Ahmed, Z; Doherty, KM; Silveira-Moriyama, L; Bandopadhyay, R; Lashley, T; Mamais, A; Hondhamuni, G; (2011) Globular glial tauopathies (GGT) presenting with motor neuron disease or frontotemporal dementia: an emerging group of 4-repeat tauopathies. ACTA NEUROPATHOL , 122 (4) 415 - 428. 10.1007/s00401-011-0857-4.

Anaya, F; Lees, A; de Silva, R; (2011) TAU GENE PROMOTER rs242557 AND ALLELE-SPECIFIC PROTEIN BINDING. TRANSLATIONAL NEUROSCIENCE , 2 (2) 176 - 205. 10.2478/s13380-011-0021-6.

Compta, Y; Parkkinen, L; O'Sullivan, SS; Vandrovcova, J; Holton, JL; Collins, C; Lashley, T; (2011) Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important? BRAIN , 134 1493 - 1505. 10.1093/brain/awr031.

Hoglinger, GU; Melhem, NM; Dickson, DW; Sleiman, PMA; Wang, LS; Klei, L; Rademakers, R; (2011) Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. NAT GENET , 43 (7) 699 - U125. 10.1038/ng.859.

Pham, C-T; Haïk, S; Hauw, J-J; Duyckaerts, C; de Silva, R; Lees, A; Verny, M; (2011) Tau-positive grains are constant in centenarians' hippocampus. Neurobiology of Aging , 32 (7) 1296 - 1303. 10.1016/j.neurobiolaging.2009.07.009.

Pham, CT; de Silva, R; Haik, S; Verny, M; Sachet, A; Forette, B; Lees, A; (2011) Tau-positive grains are constant in centenarians' hippocampus. NEUROBIOL AGING , 32 (7) 1296 - 1303. 10.1016/j.neurobiolaging.2009.07.009.

Plagnol, V; Nalls, MA; Bras, JM; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; (2011) A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLoS Genetics , 7 (6) , Article e1002142. 10.1371/journal.pgen.1002142. Green open access
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Rohrer, JD; Lashley, T; Schott, JM; Warren, JE; Mead, S; Isaacs, AM; Beck, J; (2011) Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration. BRAIN , 134 2565 - 2581. 10.1093/brain/awr198. Gold open access

Rohrer, JD; Paviour, D; Vandrovcova, J; Hodges, J; de Silva, R; Rossor, MN; (2011) Novel L284R MAPT Mutation in a Family with an Autosomal Dominant Progressive Supranuclear Palsy Syndrome. NEURODEGENER DIS , 8 (3) 149 - 152. 10.1159/000319454.

2010

Anaya, FJ; Vandrovcova, J; Lees, A; de Silva, R; (2010) Investigation of the role of tau gene transcriptional regulation in neurodegeneration. In: MOVEMENT DISORDERS. (pp. S200 - S201). WILEY-LISS

Compta, Y; Parkkinen, L; Vandrovcova, J; O'Sullivan, S; Holton, J; de Silva, R; Lashley, T; (2010) Lewy-and Alzheimer-type pathologies in Parkinson's disease with dementia: A comprehensive brain-bank study. In: MOVEMENT DISORDERS. (pp. S317 - S317). WILEY-LISS

Kay, V; Vandrovcova, J; Pittmann, A; Lees, A; de Silva, R; (2010) Tau gene polymorphism influences risk of sporadic tauopathy by allele-specific changes in transcription and alternative splicing. In: MOVEMENT DISORDERS. (pp. S475 - S475). WILEY-LISS

Luk, C; Vandrovcova, J; Malzer, E; Lees, A; de Silva, R; (2010) BRAIN TAU ISOFORM mRNA AND PROTEIN CORRELATION IN PSP BRAIN. TRANSLATIONAL NEUROSCIENCE , 1 (1) 30 - 36. 10.2478/v10134-010-0009-8.

Stamelou, M; de Silva, R; Arias-Carrion, O; Boura, E; Hollerhage, M; Oertel, WH; Muller, U; (2010) Rational therapeutic approaches to progressive supranuclear palsy. BRAIN , 133 1578 - 1590. 10.1093/brain/awq115.

Suh, J; Im, DS; Moon, GJ; Ryu, KS; de Silva, R; Choi, IS; Lees, AJ; (2010) Hypoxic ischemia and proteasome dysfunction alter tau isoform ratio by inhibiting exon 10 splicing. J NEUROCHEM , 114 (1) 160 - 170. 10.1111/j.1471-4159.2010.06732.x.

Vandrovcova, J; Anaya, F; Kay, V; Lees, A; Hardy, J; de Silva, R; (2010) Disentangling the Role of the Tau Gene Locus in Sporadic Tauopathies. CURR ALZHEIMER RES , 7 (8) 726 - 734.

2009

Dickey, C; Kraft, C; Jinwal, U; Koren, J; Johnson, A; Anderson, L; Lebson, L; (2009) Aging Analysis Reveals Slowed Tau Turnover and Enhanced Stress Response in a Mouse Model of Tauopathy. AM J PATHOL , 174 (1) 228 - 238. 10.2353/ajpath.2009.080764.

Lace, G; Forster, G; Savva, G; Matthews, F; Brayne, C; De Silva, R; Strong, MJ; (2009) Variation in 4R and 3R tau isoforms in the ageing population. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 19 - 19). BLACKWELL PUBLISHING

Lace, G; Savva, GM; Forster, G; de Silva, R; Brayne, C; Matthews, FE; Barclay, JJ; (2009) Hippocampal tau pathology is related to neuroanatomical connections: an ageing population-based study. BRAIN , 132 1324 - 1334. 10.1093/brain/awp059.

Luk, C; Giovannoni, G; Williams, DR; Lees, AJ; de Silva, R; (2009) Development of a sensitive ELISA for quantification of three- and four-repeat tau isoforms in tauopathies. J NEUROSCI METH , 180 (1) 34 - 42. 10.1016/j.jneumeth.2009.02.015.

Momeni, P; Pittman, A; Lashley, T; Vandrovcova, J; Malzer, E; Luk, C; Hulette, C; (2009) Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation. NEUROBIOL AGING , 30 (3) 388 - 393. 10.1016/j.neurobiolaging.2007.07.013.

Rohrer, JD; Guerreiro, R; Vandrovcova, J; Uphill, J; Reiman, D; Beck, J; Isaacs, AM; (2009) The heritability and genetics of frontotemporal lobar degeneration. NEUROLOGY , 73 (18) 1451 - 1456.

Silveira-Moriyama, L; Gonzalez, AM; O'Sullivan, SS; Wllliams, DR; Massey, L; Parkkinen, L; Ahmed, Z; (2009) Concomitant progressive supranuclear palsy and multiple system atrophy: More than a simple twist of fate? NEUROSCI LETT , 467 (3) 208 - 211. 10.1016/j.neulet.2009.10.036.

Silveira-Moriyama, L; Sirisena, D; Gamage, P; Gamage, R; Silva, R; Lees, AJ; (2009) Adapting the Sniffin' Sticks to Diagnose Parkinson's Disease in Sri Lanka. MOVEMENT DISORD , 24 (8) 1229 - 1233. 10.1002/mds.22545.

Vandrovcova, J; Pittman, AM; Malzer, E; Abou-Sleiman, PM; Lees, AJ; Wood, NW; de Silva, R; (2009) Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease. NEUROBIOL AGING , 30 (9) 1477 - 1482. 10.1016/j.neurobiolaging.2007.11.019.

2008

Dunn, L; Vandrovcova, J; Malzer, E; Lees, AJ; Hardy, J; de Silva, R; (2008) Investigation of tau gene-specific natural antisense transcript expression and splicing. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 30 - 30). BLACKWELL PUBLISHING

Espinoza, M; de Silva, R; Dickson, DW; Davies, P; (2008) Differential incorporation of tau isoforms in Alzheimer's disease. J ALZHEIMERS DIS , 14 (1) 1 - 16.

Kovacs, GG; Pittman, A; Revesz, T; Luk, C; Lees, A; Kiss, E; Tariska, P; (2008) MAPT S305I mutation: implications for argyrophilic grain disease. ACTA NEUROPATHOL , 116 (1) 103 - 118. 10.1007/s00401-007-0322-6.

Lace, G; Forster, G; Savva, G; Barclay, JJ; Dakin, L; Matthews, F; Brayne, C; (2008) Population variation in tau pathology in the MRC-CFAS neuropathology cohort. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 10 - 11). BLACKWELL PUBLISHING

Lashley, T; Revesz, T; Plant, G; Bandopadhyay, R; Lees, AJ; Frangione, B; Wood, NW; (2008) Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of disease. NEUROPATH APPL NEURO , 34 (5) 492 - 505. 10.1111/j.1365-2990.2008.00935.x. Gold open access

Luk, C; Vandrovcova, J; Lees, AJ; de Silva, R; (2008) A sandwich ELISA for measuring tau isoforms in neurodegenerative tauopathies. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 29 - 29). BLACKWELL PUBLISHING

Pittman, A; de Silva, R; Lees, AJ; Wood, NW; (2008) Genetics of progressive supranuclear palsy. In: UNSPECIFIED (475 - 485).

Revesz, T; Williams, D; de Silva, R; Strand, C; Holton, JL; Lees, AJ; (2008) Tau in progressive supranuclear palsy-parkinsonism and Richardson's syndrome. In: JOURNAL OF NEURAL TRANSMISSION. (pp. 1719 - 1720). SPRINGER WIEN

Silveira-Moriyama, L; Sirisena, D; Gamage, P; Gamage, R; de Silva, R; Lees, AJ; (2008) Using the 16 item identification test from Sniffin Stick's (SS-16) in the diagnosis of Parkinson's disease (PD) in Sri Lanka. In: MOVEMENT DISORDERS. (pp. S292 - S292). WILEY-LISS

Silveira-Moriyama, L; Sirisena, D; Gamage, P; Gamage, R; de Silva, R; Lees, AJ; (2008) Using the 16 item identification test from Sniffin Stick's (SS-16) in the diagnosis of Parkinson's disease (PD) in Sri Lanka. In: MOVEMENT DISORDERS. (pp. S292 - S292). WILEY-LISS

2007

Bullmann, T; de Silva, R; Holzer, M; Mori, H; Arendt, T; (2007) Expression of embryonic tau protein isoforms persist during adult neurogenesis in the hippocampus. HIPPOCAMPUS , 17 (2) 98 - 102. 10.1002/hipo.20255.

Bullmann, T; de Silva, R; Holzer, M; Mori, H; Arendt, T; (2007) The adult rodent hippocampus as a model for studying shifts in tau isoform expression. In: JOURNAL OF NEURAL TRANSMISSION. (pp. CXXIII - CXXIII). SPRINGER WIEN

Kumaran, R; Kingsbury, A; Coulter, I; Lashley, T; Williams, D; de Silva, R; Mann, D; (2007) DJ-1 (PARK7) is associated with 3R and 4R tau neuronal and glial inclusions in neurodegenerative disorders. NEUROBIOL DIS , 28 (1) 122 - 132. 10.1016/j.nbd.2007.07.012.

Lace, G; Ince, PG; Matthews, F; Brayne, C; De Silva, R; Wharton, SB; (2007) Population variation in tau pathology in the aged hippocampus in the MRC-CFAS neuropathology cohort. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 263 - 263). BLACKWELL PUBLISHING

Myers, AJ; Pittman, AM; Zhao, AS; Rohrer, K; Kaleem, M; Marlowe, L; Lees, A; (2007) The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. NEUROBIOL DIS , 25 (3) 561 - 570. 10.1016/j.nbd.2006.10.018.

Oda, T; Tsuchiya, K; Arai, T; Togo, T; Uchikado, H; de Silva, R; Lees, A; (2007) Pick's disease with Pick bodies: An unusual autopsy case showing degeneration of the pontine nucleus, dentate nucleus, Clarke's column, and lower motor neuron. NEUROPATHOLOGY , 27 (1) 81 - 89. 10.1111/j.1440-1789.2006.00744.x.

Vandrovcova, J; Pittman, AM; Malzer, E; Wood, NW; Lees, AJ; de Silva, R; (2007) Association of MAPT haplotype-tagging SNPs with Parkinson's disease. In: MOVEMENT DISORDERS. (pp. S129 - S130). WILEY-LISS

Williams, DR; Holton, JL; Strand, C; Pittman, A; de Silva, R; Lees, AJ; Revesz, T; (2007) Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndrome. BRAIN , 130 1566 - 1576. 10.1093/brain/awm104.

Williams, DR; Holton, JL; Strand, K; de Silva, R; Lees, AJ; Revesz, T; (2007) Differences in tau load are associated with different clinical phenotypes in progressive supranuclear palsy. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 256 - 257). BLACKWELL PUBLISHING

Williams, DR; Pittman, AM; Revesz, T; Lees, AJ; de Silva, R; (2007) Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy. MOVEMENT DISORD , 22 (6) 895 - 897. 10.1002/mds.21393.

Williams, DR; Revesz, T; Lees, AJ; Pittman, AM; De Silva, R; (2007) Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy. Movement Disorders , 22 (6) 895 - 897. 10.1002/mds.21393.

2006

Bandopadhyay, R; Coulter, I; Kumaran, R; Lashley, T; Kingsbury, A; de Silva, R; Holton, J; (2006) DJ-1 (PARK-7) protein in neuronal and glial inclusions in neurodegenerative disorders. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 221 - 221). BLACKWELL PUBLISHING

Bandopadhyay, R; Kingsbury, AE; Harvey, K; de Silva, R; Lees, AJ; (2006) Expression of LRRK2/dardarin and alpha-synuclein in Park8 mutated brains. In: MOVEMENT DISORDERS. (pp. S350 - S350). WILEY-LISS

Hardy, J; Pittman, A; Myers, A; Fung, HC; de Silva, R; Duckworth, J; (2006) Tangle diseases and the tau haplotypes. ALZ DIS ASSOC DIS , 20 (1) 60 - 62.

Ingelsson, M; Ramasamy, K; Cantuti-Castelvetri, I; Skoglund, L; Matsui, T; Orne, J; Kowa, H; (2006) No alteration in tau exon 10 alternative splicing in tangle-bearing neurons of the Alzheimer's disease brain. ACTA NEUROPATHOL , 112 (4) 439 - 449. 10.1007/s00401-006-0095-3.

Iseki, E; Yamamoto, R; Murayama, N; Minegishi, M; Togo, T; Katsuse, O; Kosaka, K; (2006) Immunohistochemical investigation of neurofibrillary tangles and their tau isoforms in brains of limbic neurofibrillary tangle dementia. Neurosci Lett , 405 (1-2) 29 - 33. 10.1016/j.neulet.2006.06.036.

Luk, CY; Giovannoni, G; Lees, AJ; de Silva, R; (2006) Development of an ELISA for sensitive quantification of three-repeat and four-repeat tau isoforms in tauopathies and characterisation of tau isoforms in CSF. In: MOVEMENT DISORDERS. (pp. S345 - S345). WILEY-LISS

Pittman, A; Myers, A; Hardy, J; Wood, N; Lees, AJ; de Silva, R; (2006) Increased MAPT expression as the possible functional basis of the genetic association with PSP. In: MOVEMENT DISORDERS. (pp. S415 - S415). WILEY-LISS

Pittman, AM; Fung, HC; de Silva, R; (2006) Untangling the tau gene association with neurodegenerative disorders. HUM MOL GENET , 15 R188 - R195. 10.1093/hmg/ddl190.

Shaw-Smith, C; Pittman, A; Willatt, L; Martin, H; Rickman, L; Gribble, S; Rosenberg, C; (2006) Microdeletion encompassing the MAPT gene at chromosome 17q21.3 is associated with developmental delay and learning disability. In: JOURNAL OF MEDICAL GENETICS. (pp. S52 - S52). B M J PUBLISHING GROUP

Shaw-Smith, C; Pittman, AM; Willatt, L; Martin, H; Rickman, L; Gribble, S; Curley, R; (2006) Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. NAT GENET , 38 (9) 1032 - 1037. 10.1038/ng1864.

Shaw-Smith, C; Rickman, L; Firth, HV; Pittman, AM; Lees, AJ; De Silva, R; Willatt, L; (2006) Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nature Genetics , 38 (9) 1032 - 1037. 10.1038/ng1858.

Strand, C; Williams, D; De Silva, R; Holton, J; Revesz, T; (2006) Determining 3-repeat tau pathology in PSP. In: MOVEMENT DISORDERS. (pp. S525 - S525). WILEY-LISS

Yokota, O; Tsuchiya, K; Oda, T; Ishihara, T; de Silva, R; Lees, AJ; Arai, T; (2006) Amyotrophic lateral sclerosis with dementia: an autopsy case showing many Bunina bodies, tau-positive neuronal and astrocytic plaque-like pathologies, and pallido-nigral degeneration. ACTA NEUROPATHOL , 112 (5) 633 - 645. 10.1007/s00401-006-0141-1.

de Silva, R; Lashley, T; Strand, C; Shiarli, AM; Shi, J; Tian, JZ; Bailey, KL; (2006) An immunohistochemical study of cases of sporadic and inherited frontotemporal lobar degeneration using 3R-and 4R-specific tau monoclonal antibodies. ACTA NEUROPATHOL , 111 (4) 329 - 340. 10.1007/s00401-006-0048-x.

de Silva, R; Lashley, T; Strand, K; Shiarli, AM; Revesz, T; Mann, DMA; (2006) An immunohistochemical study of sporadic and inherited frontotemporal lobar degeneration using 3R-and 4R-specific monoclonal tau antibodies. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 235 - 235). BLACKWELL PUBLISHING

2005

Bandopadhyay, R; Miller, DW; Kingsbury, AE; Jowett, TP; Kaleem, MM; Pittman, AM; de Silva, R; (2005) Development, characterisation and epitope mapping of novel monoclonal antibodies for DJ-1 (PARK7) protein. NEUROSCI LETT , 383 (3) 225 - 230. 10.1016/j.neulet.2005.04.024.

Fung, HC; Evans, J; Evans, W; Duckworth, J; Pittman, A; de Silva, R; Myers, A; (2005) The architecture of the tau haplotype block in different ethnicities. NEUROSCI LETT , 377 (2) 81 - 84. 10.1016/j.neulet.2004.11.072.

Hardy, J; Pittman, A; Myers, A; Gwinn-Hardy, K; Fung, HC; de Silva, R; Hutton, M; (2005) Evidence suggesting that Homo neanderthalensis contributed the H2 MAPT haplotype to Homo sapiens. BIOCHEMICAL SOCIETY TRANSACTIONS , 33 582 - 585.

Myers, AJ; Kaleem, M; Marlowe, L; Fung, HC; Duckworth, J; Leung, D; Hardy, J; (2005) The H1c haplotype at the MAPT locus is associated with Alzheimer's disease. Human Molecular Genetics , 14 (16) 2399 - 2404. 10.1093/hmg/ddi241.

Myers, AJ; Kaleem, M; Marlowe, L; Pittman, AM; Lees, AJ; Fung, HC; Duckworth, J; (2005) The H1c haplotype at the MAPT locus is associated with Alzheimer's disease. HUM MOL GENET , 14 (16) 2399 - 2404. 10.1093/hmg/ddi241.

Myers, AJ; Pittman, A; Fung, HC; Kaleem, M; Marlowe, L; Pittman, A; Duckworth, J; (2005) The H1c haplotype of the MAPT locus is associated with autopsy confirmed late onset Alzheimer's disease. In: ANNALS OF NEUROLOGY. (pp. ? - ?). WILEY-LISS

Neumann, M; Mittelbronn, M; Simon, P; Vanmassenhove, B; de Silva, R; Lees, A; Klapp, J; (2005) A New family with frontotemporal dementia with intronic 10+3 splice site mutation in the tau gene: neuropathology and molecular effects. NEUROPATH APPL NEURO , 31 (4) 362 - 373. 10.1111/j.1365-2990.2005.00629.x.

Piao, YS; Tan, CF; Iwanaga, K; Kakita, A; Takano, H; Nishizawa, M; Lashley, T; (2005) Sporadic four-repeat tauopathy with frontotemporal degeneration, parkinsonism and motor neuron disease. ACTA NEUROPATHOL , 110 (6) 600 - 609. 10.1007/s00401-005-1086-5.

Pittman, AM; Myers, A; Fung, HC; Hardy, J; Lees, A; de Silva, R; (2005) Linkage disequilibrium fine-mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degenerarion. In: MOVEMENT DISORDERS. (pp. S35 - S35). WILEY-LISS

Pittman, AM; Myers, AJ; Abou-Sleiman, P; Fung, HC; Kaleem, M; Marlowe, L; Duckworth, J; (2005) Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J MED GENET , 42 (11) 837 - 846. 10.1136/jmg.2005.031377. Gold open access

Williams, D.R.; de Silva, R.; Paviour, D.C.; Pittman, A.; Watt, H.C.; Kilford, L.; Holton, J.L.; (2005) Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism. Brain , 128 (6) pp. 1247-1258. 10.1093/brain/awh488.

Williams, DR; de Silva, R; Lees, AJ; (2005) Biochemical differences exist between clinical phenotypes of progressive supranuclear palsy: Richardson's syndrome and PSP-Parkinsonism. In: MOVEMENT DISORDERS. (pp. S2 - S3). WILEY-LISS

Williams, DR; de Silva, R; Paviour, DC; Pittman, A; Watt, HC; Kilford, L; Holton, JL; (2005) Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism. BRAIN , 128 1247 - 1258. 10.1093/brain/awh488.

2004

Bandopadhyay, R; Kingsbury, AE; Cookson, MR; Reid, AR; Evans, IM; Hope, AD; Pittman, AM; (2004) The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease. BRAIN , 127 420 - 430. 10.1093/brain/awh054.

Evans, W; Fung, HC; Steele, J; Eerola, J; Tienari, P; Pittman, A; de Silva, R; (2004) The tau H2 haplotype is almost exclusively Caucasian in origin. NEUROSCI LETT , 369 (3) 183 - 185. 10.1016/j.neulet.2004.05.119.

Gibb, GM; de Silva, R; Revesz, T; Lees, AJ; Anderton, BH; Hanger, DP; (2004) Differential involvement and heterogeneous phosphorylation of tau isoforms in progressive supranuclear palsy. MOL BRAIN RES , 121 (1-2) 95 - 101. 10.1016/j.molbrainres.2003.11.007.

Hope, AD; Lashley, T; Lees, AJ; de Silva, R; (2004) Failure in heat-shock protein expression in response to UBB+1 protein in progressive supranuclear palsy in humans. NEUROSCI LETT , 359 (1-2) 94 - 98. 10.1016/j.neulet.2003.12.0127.

Myers, AJ; Pittman, A; Duckworth, J; Fung, P; Evans, J; Evans, W; Bryden, L; (2004) Investigation of the microtubule associated protein tau locus. In: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. (pp. 16 - 16). WILEY-LISS

Paisan-Ruiz, C; Jain, S; Evans, EW; Gilks, WP; Simon, J; van der Brug, M; de Munain, AL; (2004) Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. NEURON , 44 (4) 595 - 600.

Pickering-Brown, SM; Baker, M; Nonaka, T; Ikeda, K; Sharma, S; Mackenzie, J; Simpson, SA; (2004) Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene. BRAIN , 127 1415 - 1426. 10.1093/brain/awh147.

Pittman, A.M.; Myers, A.J.; Duckworth, J.; Bryden, L.; Hanson, M.; Abou-Sleiman, P.; Wood, N.W.; (2004) The structure of the tau haplotype in controls and in progressive supranuclear palsy. Human Molecular Genetics , 13 (12) pp. 1267-1274. 10.1093/hmg/ddh138.

Pittman, AM; Myers, AJ; Duckworth, J; Bryden, L; Hanson, M; Abou-Sleiman, P; Wood, NW; (2004) The structure of the tau haplotype in controls and in progressive supranuclear palsy. HUM MOL GENET , 13 (12) 1267 - 1274. 10.1093/hmg/ddh138.

Togo, T; Akiyama, H; Iseki, E; Uchikado, H; Kondo, H; Ikeda, K; Tsuchiya, K; (2004) Immunohistochemical study of tau accumulation in early stages of Alzheimer-type neurofibrillary lesions. ACTA NEUROPATHOL , 107 (6) 504 - 508. 10.1007/s00401-004-0842-2.

de Silva, R; Lashley, T; Revesz, T; Lees, A; Powers, JM; (2004) Detecting tau isoforms in archival cases. ACTA NEUROPATHOL , 107 (2) 181 - 182. 10.1007/s00401-003-0795-x.

de Silva, R; Pittman, AM; Myers, AJ; Wood, NW; Hardy, J; Lees, AJ; (2004) Definition of the tau gene haplotype block that is associated with progressive supranuclear palsy. In: MOVEMENT DISORDERS. (pp. S355 - S355). WILEY-LISS

2003

Andorfer, C; Kress, Y; Espinoza, M; de Silva, R; Tucker, KL; Barde, YA; Duff, K; (2003) Hyperphosphorylation and aggregation of tau in mice expressing normal human tau isoforms. J NEUROCHEM , 86 (3) 582 - 590. 10.1046/j.1471-4159.2003.01879.x.

Hogg, M; Grujic, ZM; Baker, M; Demirci, S; Guillozet, AL; Sweet, AP; Herzog, LL; (2003) The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy. ACTA NEUROPATHOL , 106 (4) 323 - 336. 10.1007/s00401-003-0734-x.

Hope, AD; de Silva, R; Fischer, DF; Hol, EM; van Leeuwen, FW; Lees, AJ; (2003) Alzheimer's associated variant ubiquitin causes inhibition of the 26S proteasome and chaperone expression. J NEUROCHEM , 86 (2) 394 - 404. 10.1046/j.1471-4159.2003.01844.x.

Iseki, E; Togo, T; Suzuki, K; Katsuse, O; Marui, W; de Silva, R; Lees, A; (2003) Dementia with Lewy bodies from the perspective of tauopathy. ACTA NEUROPATHOL , 105 (3) 265 - 270. 10.1007/s00401-002-0644-3.

Katsuse, O; Iseki, E; Arai, T; Akiyama, H; Togo, T; Uchikado, H; Kato, M; (2003) 4-repeat tauopathy sharing pathological and biochemical features of corticobasal degeneration and progressive supranuclear palsy. ACTA NEUROPATHOL , 106 (3) 251 - 260. 10.1007/s00401-003-0728-8.

de Silva, R; Hope, A; Pittman, A; Weale, ME; Morris, HR; Wood, NW; Lees, AJ; (2003) Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy. NEUROLOGY , 61 (3) 407 - 409.

de Silva, R; Lashley, T; Gibb, G; Hanger, D; Hope, A; Reid, A; Bandopadhyay, R; (2003) Pathological inclusion bodies in tauopathies contain distinct complements of tau with three or four microtubule-binding repeat domains as demonstrated by new specific monoclonal antibodies. NEUROPATH APPL NEURO , 29 (3) 288 - 302.

de Silva, R.; Lashley, T.; Gibb, G.; Hanger, D.; Hope, A.; Reid, A.; Bandopadhyay, R.; (2003) Pathological inclusion bodies in tauopathies contain distinct complements of tau with three or four microtubule-binding repeat domains as demonstrated by new specific monoclonal antibodies. Neuropathology and Applied Neurobiology , 29 (3) pp. 288-302. 10.1046/j.1365-2990.2003.00463.x.

2002

Gibb, G; Hanger, D; Anderton, B; Connell, J; Grierson, A; De Silva, R; Revesz, T; (2002) Comparision of tau protein expression in AD, FTDP-17, PSP and Pick's disease. NEUROBIOL AGING , 23 (1) S505 - S505.

Hanger, DP; Gibb, GM; de Silva, R; Boutajangout, A; Brion, JP; Revesz, T; Lees, AJ; (2002) The complex relationship between soluble and insoluble tau in tauopathies revealed by efficient dephosphorylation and specific antibodies. FEBS LETT , 531 (3) 538 - 542.

Togo, T; Sahara, N; Yen, SH; Cookson, N; Ishizawa, T; Hutton, M; de Silva, R; (2002) Argyrophilic grain disease is a sporadic 4-repeat tauopathy. J NEUROPATH EXP NEUR , 61 (6) 547 - 556.

Utton, M; Connell, J; Asuni, A; Miller, C; Anderton, B; van Slegtenhorst, M; Hutton, M; (2002) The mechanism of slow axonal transport of the microtubule-associated protein tau and the transport rates of different isoforms and mutants. NEUROBIOL AGING , 23 (1) S499 - S499.

Utton, MA; Connell, J; Asuni, AA; van Slegtenhorst, M; Hutton, M; de Silva, R; Lees, AJ; (2002) The slow axonal transport of the microtubule-associated protein tau and the transport rates of different Isoforms and mutants in cultured neurons. J NEUROSCI , 22 (15) 6394 - 6400.

de Silva, R; (2002) Functional aspects of alpha-synuclein. In: Neurodgenerative Disorders Associated with α-Synuclein Pathology. (1 - 10). Medicina stm Editores, S.L.: Barcelona.

de Silva, R; Farrer, M; (2002) Tau neurotoxicity without the lesions: a fly challenges a tangled web. TRENDS NEUROSCI , 25 (7) 327 - 329.

de Silva, R; Hardy, J; Crook, J; Khan, N; Graham, EA; Morris, CM; Wood, NW; (2002) The tau locus is not significantly associated with pathologically confirmed sporadic Parkinson's disease. NEUROSCI LETT , 330 (2) 201 - 203.

de Silva, R; Lashley, T; Gibb, G; Hanger, D; Revesz, T; Lees, A; (2002) Dissection of tau isoform composition of tauopathy lesions using novel isoform-specific monoclonal antibodies. In: MOVEMENT DISORDERS. (pp. S20 - S20). WILEY-LISS

de Silva, R; Lees, A; (2002) Genetics of the tau locus in progressive supranuclear palsy. In: MOVEMENT DISORDERS. (pp. 1405 - 1405). WILEY-LISS

2001

Bandopadhyay, R; de Silva, R; Khan, N; Graham, E; Vaughan, J; Engelender, S; Ross, C; (2001) No pathogenic mutations in the synphilin-1 gene in Parkinson's disease. NEUROSCI LETT , 307 (2) 125 - 127.

Farrer, M; Lockhart, P; Singleton, A; West, A; Hardy, J; Hernandez, D; Maraganore, DM; (2001) α-synuclein gene haplotypes are associated with Parkinson's disease. Human Molecular Genetics , 10 (17) 1847 - 1851.

Farrer, M; Maraganore, DM; Lockhart, P; Singleton, A; Lesnick, TG; de Andrade, M; West, A; (2001) alpha-synuclein gene haplotypes are associated with Parkinson's disease. HUM MOL GENET , 10 (17) 1847 - 1851.

Khan, N; Graham, E; Dixon, P; Morris, C; Mander, A; Clayton, D; Vaughan, J; (2001) Parkinson's disease is not associated with combined alpha-synuclein/apolipoprotein E susceptibility genotype. ANN NEUROL , 49 (5) 665 - 668.

de Silva, R; Weiler, M; Morris, HR; Martin, ER; Wood, NW; Lees, AJ; (2001) Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy. NEUROSCI LETT , 311 (3) 145 - 148.

2000

Morris, HR; Vaughan, JR; Datta, SR; Bandopadhyay, R; de Silva, HAR; Schrag, A; Cairns, NJ; (2000) Multiple system atrophy/progressive supranuclear palsy: alpha-Synuclein, synphilin, tau, and APOE. NEUROLOGY , 55 (12) 1918 - 1920.

Weiler, M; de Silva, HAR; Morris, H; Wood, NW; Lees, AJ; (2000) Strong association of novel tau promoter polymorphisms with progressive supranuclear palsy. AM J HUM GENET , 67 (4) 193 - 193.

de Silva, HA; Khan, NL; Wood, NW; (2000) The genetics of Parkinson's disease. CURR OPIN GENET DEV , 10 (3) 292 - 298.

1997

Jen, A; Wickenden, C; de Silva, HAR; Patel, AJ; (1997) Preparation and purification of antisera against different regions or isoforms of beta-amyloid precursor protein. BRAIN RES PROTOC , 2 (1) 23 - 30.

Patel, AJ; Jen, A; Wickenden, C; Jen, LS; Gentleman, SM; de Silva, HA; (1997) Glia-derived cytokines and the biogenesis of amyloid plaques in Alzheimer's disease. Mol Psychiatry , 2 (2) 130 - 132.

daSilva, HAR; Patel, AJ; (1997) Presenilins and early-onset familial Alzheimer's disease. NEUROREPORT , 8 (8) R1 - R12.

deSilva, HAR; Jen, A; Wickenden, C; Jen, LS; Wilkinson, SL; Patel, AJ; (1997) Cell-specific expression of beta-amyloid precursor protein isoform mRNAs and proteins in neurons and astrocytes. MOLECULAR BRAIN RESEARCH , 47 (1-2) 147 - 156.

1996

Boteva, K; Vitek, M; Mitsuda, H; de Silva, R; Xu, PT; Small, G; Gilbert, JR; (1996) Mutation analysis of presenillin 1 gene in Alzheimer's disease. Lancet , 347 (8994) 130 - 131.

Chu, FF; Rohan de Silva, HA; Esworthy, RS; Boteva, KK; Walters, CE; Roses, A; Rao, PN; (1996) Polymorphism and chromosomal localization of the GI-form of human glutathione peroxidase (GPX2) on 14q24.1 by in situ hybridization. Genomics , 32 (2) 272 - 276. 10.1006/geno.1996.0115.

Comi, GP; Ciafaloni, E; deSilva, HAR; Prelle, A; Bardoni, A; Rigoletto, C; Robotti, M; (1996) A G(+1)->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient (vol 4, pg 2171, 1995). HUMAN MOLECULAR GENETICS , 5 (4) 562 - 562.

Meckelein, B; de Silva, HA; Roses, AD; Rao, PN; Pettenati, MJ; Xu, PT; Hodge, R; (1996) Human endopeptidase (THOP1) is localized on chromosome 19 within the linkage region for the late-onset alzheimer disease AD2 locus. Genomics , 31 (2) 246 - 249. 10.1006/geno.1996.0041.

Patel, AJ; Gunasekera, S; Jen, A; Rohan de Silva, HA; (1996) beta-Amyloid-mediated inhibition of redox activity (MTT reduction) is not an indicator of astroglial degeneration. Neuroreport , 7 (12) 2026 - 2030.

Patel, AJ; Wickenden, C; Jen, A; de Silva, HA; (1996) Glial cell derived neurotrophic factors and Alzheimer's disease. Neurodegeneration , 5 (4) 489 - 496.

Xia, Y; Rohan de Silva, HA; Rosi, BL; Yamaoka, LH; Rimmler, JB; Pericak-Vance, MA; Roses, AD; (1996) Genetic studies in Alzheimer's disease with an NACP/alpha-synuclein polymorphism. Ann Neurol , 40 (2) 207 - 215. 10.1002/ana.410400212.

1995

Chen, X; de Silva, HA; Pettenati, MJ; Rao, PN; St George-Hyslop, P; Roses, AD; Xia, Y; (1995) The human NACP/alpha-synuclein gene: chromosome assignment to 4q21.3-q22 and TaqI RFLP analysis. Genomics , 26 (2) 425 - 427.

Comi, GP; Ciafaloni, E; de Silva, HA; Prelle, A; Bardoni, A; Rigoletto, C; Robotti, M; (1995) A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient. Hum Mol Genet , 4 (11) 2171 - 2174.

Iwai, A; Masliah, E; Yoshimoto, M; Ge, N; Flanagan, L; de Silva, HA; Kittel, A; (1995) The precursor protein of non-A beta component of Alzheimer's disease amyloid is a presynaptic protein of the central nervous system. Neuron , 14 (2) 467 - 475.

Sherrington, R; Rogaev, EI; Liang, Y; Rogaeva, EA; Levesque, G; Ikeda, M; Chi, H; (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature , 375 (6534) 734 - 735. 10.1038/375754a0.

Sherrington, R; Rogaev, EI; Liang, Y; Rogaeva, EA; Levesque, G; Ikeda, M; Chi, H; (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature , 375 (6534) 754 - 760. 10.1038/375754a0.

1994

DESILVA, H; HOLSTI, M; ALBERTS, M; ROSES, A; (1994) CALMODULIN AS A CANDIDATE GENE IN EARLY-ONSET CHROMOSOME 14-LINKED ALZHEIMERS-DISEASE. NEUROBIOLOGY OF AGING , 15 S130 - S130.

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