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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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Drosophila fly model - University of Sheffield

Genetic mutations linked to Parkinson's disease

Research led by consortium researchers Dr Helene Plun-Favreau (UCL Institute of Neurology) and Dr Alex Whitworth (University of Sheffield), and collaborator Dr Heike Laman (University of Cambridge), has discovered how genetic mutations linked to Parkinson’s disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments. In the new study, published in Nature Neuroscience, the team of cross-institutional researchers showed how defects in the Parkinson’s gene Fbxo7 cause problems with mitophagy. More...

Autophagy

LRRK2 and autophagy

Mutations in LRRK2 are the most common genetic cause of Parkinson’s disease. Here, Claudia Manzoni talks about her research (funded by the Rosetrees Trust and the Michael J. Fox Foundation) into what LRRK2 might be doing within the cell: Parkinson’s disease is a brain illness that afflicts 1 in 500 people in the UK. High profile patients, such as the actor Michael J Fox, the boxer Muhammad Ali and the late Pope John Paul II, have raised public awareness of Parkinson’s and its devastating impact. More...

GBA neurons

GBA and mitochondria

Dr Laura Osellame tells us about her recent paper in Cell Metabolism about Mitochondrial dysfunction linked to loss of an enzyme called GBA: Gaucher Disease (GD) is a rare inherited disease, belonging to the family of lysosomal storage disorders. Mutations in the gene glucocerebrosidase (GBA) are responsible for the disease and can increase susceptibility to Parkinson’s disease (PD). Genetic studies undertaken at UCL and other hospitals around the world suggest that mutations in GBA are the most common genetic risk factor currently known for PD. More...

Image of alpha-synuclein

Alpha-synuclein in LRRK2 brains

First author Adamantios Mamais tells us about his recent publication in Neurobiology of Disease: At the Queen Square Brain Bank (part of the UCL Institute of Neurology) we hold a large collection of post-mortem human brain tissue from patients with neurodegenerative diseases including Parkinson’s disease (PD); a debilitating neurological disorder that affects the central nervous system. In the United States alone about 50,000 new cases are reported every year. The main symptoms include tremor, slow movement, rigid limbs and a shuffling gait while these worsen with time. More...

Rohan de Silva

(Reader)

rds pic


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: 147.

2014

Beck, J; Adamson, G; Campbell, T; Uphill, J; Poulter, M; Collinge, J; ... de Silva, R; + view all (2014) Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiology of Aging , 35 (1) 261 - 265. 10.1016/j.neurobiolaging.2013.07.017.

Ferrari, R; Ryten, M; Simone, R; Trabzuni, D; Nicolaou, N; Hondhamuni, G; ... de Silva, R; + view all (2014) Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. Neurobiol Aging 10.1016/j.neurobiolaging.2014.01.010.

Ling, H; de Silva, R; Massey, LA; Courtney, R; Hondhamuni, G; Bajaj, N; ... Revesz, T; + view all (2014) Characteristics of progressive supranuclear palsy presenting with corticobasal syndrome: a cortical variant. Neuropathol Appl Neurobiol , 40 (2) 149 - 163. 10.1111/nan.12037.

2013

Beck, J; Pittman, A; Adamson, G; Campbell, T; Kenny, J; Houlden, H; ... Mead, S; + view all (2013) Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiol Aging 10.1016/j.neurobiolaging.2013.07.017.

Cortese, A; Plagnol, V; Brady, S; Simone, R; Lashley, T; Acevedo-Arozena, A; ... Fratta, P; + view all (2013) Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy. Neurobiol Aging 10.1016/j.neurobiolaging.2013.12.029.

Klebe, S; Golmard, JL; Nalls, MA; Saad, M; Singleton, AB; Bras, JM; ... Wood, NW; + view all (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 and gold open access
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Liang, Y; Gordon, E; Rohrer, J; Downey, L; de Silva, R; Jäger, HR; ... Caine, D; + view all (2013) A cognitive chameleon: Lessons from a novel MAPT mutation case. Neurocase 10.1080/13554794.2013.826697.

Majounie, E; Cross, W; Newsway, V; Owen, MJ; O'Donovan, MC; Morris, HR; ... Ferrucci, L; + view all (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.

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; ... Plagnol, V; + view all (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 and gold open access
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2012

Kara, E; Ling, H; Pittman, AM; Shaw, K; de Silva, R; Simone, R; ... Revesz, T; + view all (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 and gold open access
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Lace, G; Ince, PG; Brayne, C; Savva, GM; Matthews, FE; de Silva, R; ... MRC-CFAS,; + view all (2012) Mesial Temporal Astrocyte Tau Pathology in the MRC-CFAS Ageing Brain Cohort. DEMENTIA AND GERIATRIC COGNITIVE DISORDERS , 34 (1) 15 - 24. 10.1159/000341581.

Luk, C; Compta, Y; Magdalinou, N; Marti, MJ; Hondhamuni, G; Zetterberg, H; ... de Silva, R; + view all (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; ... Ryten, M; + view all (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 and gold open access
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2011

Ahmed, Z; Doherty, K; Silveira-Moriyama, L; Bandopadhyay, R; Lashley, T; Mamais, A; ... Revesz, T; + view all (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, KM; Silveira-Moriyama, L; Bandopadhyay, R; Lashley, T; Mamais, A; ... Revesz, T; + view all (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; ... Revesz, T; + view all (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; ... PSP Genetics Study Grp,; + view all (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; ... Forette, B; + view all (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; ... Duyckaerts, C; + view all (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; ... WTCCC2,; + view all (2011) A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLOS GENET , 7 (6) , Article e1002142. 10.1371/journal.pgen.1002142. Gold open access

Rohrer, JD; Lashley, T; Schott, JM; Warren, JE; Mead, S; Isaacs, AM; ... Warren, JD; + view all (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; ... Revesz, T; + view all (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; ... Hoglinger, GU; + view all (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; ... Gwag, BJ; + view all (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; ... Lewis, J; + view all (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; ... Wharton, SB; + view all (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; ... MRC CFAS,; + view all (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; ... de Silva, R; + view all (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; ... Rossor, MN; + view all (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; ... Holton, JL; + view all (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; ... de Silva, R; + view all (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; ... MRC-CFAS,; + view all (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; ... Holton, JL; + view all (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; ... Bandopadhyay, R; + view all (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; ... Hardy, J; + view all (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; ... Tominaga, I; + view all (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; ... Lees, A; + view all (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

de Silva, R; Lashley, T; Strand, C; Shiarli, AM; Shi, J; Tian, JZ; ... Mann, DMA; + view all (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

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; ... Hyman, BT; + view all (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; ... Arai, H; + view all (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; ... Carter, NP; + view all (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; ... Carter, NP; + view all (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; ... Koiffmann, CP; + view all (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; ... Akiyama, H; + view all (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.

2005

Bandopadhyay, R; Miller, DW; Kingsbury, AE; Jowett, TP; Kaleem, MM; Pittman, AM; ... Lees, AJ; + view all (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; ... Hardy, J; + view all (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; ... Duckworth, J; + view all (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; ... Morris, CM; + view all (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; ... Hardy, J; + view all (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; ... Hardy, JA; + view all (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; ... Kretzschmar, HA; + view all (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; ... Takahashi, H; + view all (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; ... de Silva, R; + view all (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.; ... Lees, A.J.; + view all (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; ... Lees, AJ; + view all (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; ... Lees, AJ; + view all (2004) The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease. BRAIN , 127 420 - 430. 10.1093/brain/awh054.

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

Evans, W; Fung, HC; Steele, J; Eerola, J; Tienari, P; Pittman, A; ... Hardy, J; + view all (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; ... Hardy, JA; + view all (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; ... Singleton, AB; + view all (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; ... Mann, DMA; + view all (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.; ... de Silva, R.; + view all (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; ... de Silva, R; + view all (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; ... Kosaka, K; + view all (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.

2003

Andorfer, C; Kress, Y; Espinoza, M; de Silva, R; Tucker, KL; Barde, YA; ... Davies, P; + view all (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.

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; ... Lees, A; + view all (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.; ... Lees, A.; + view all (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.

Hogg, M; Grujic, ZM; Baker, M; Demirci, S; Guillozet, AL; Sweet, AP; ... Bigio, EH; + view all (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; ... Kosaka, K; + view all (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; ... Kosaka, K; + view all (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.

2002

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; ... Lees, AJ; + view all (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

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; ... Anderton, BH; + view all (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; ... Dickson, DW; + view all (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; ... Lees, A; + view all (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; ... Anderton, BH; + view all (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.

2001

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

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.

Farrer, M; Lockhart, P; Singleton, A; West, A; Hardy, J; Hernandez, D; ... De Silva, R; + view all (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; ... Hernandez, D; + view all (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; ... de Silva, R; + view all (2001) Parkinson's disease is not associated with combined alpha-synuclein/apolipoprotein E susceptibility genotype. ANN NEUROL , 49 (5) 665 - 668.

2000

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

Morris, HR; Vaughan, JR; Datta, SR; Bandopadhyay, R; de Silva, HAR; Schrag, A; ... Wood, NW; + view all (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.

1997

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.

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; deSilva, HAR; (1997) Glia-derived cytokines and the biogenesis of amyloid plaques in Alzheimer's disease. MOLECULAR PSYCHIATRY , 2 (2) 130 - 132. 10.1038/sj.mp.4000226.

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; DeSilva, HAR; Esworthy, RS; Boteva, KK; Walters, CE; Roses, A; ... Pettenati, MJ; + view all (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; ... Scarlato, G; + view all (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; deSilva, HAR; Roses, AD; Rao, PN; Pettenati, MJ; Xu, PT; ... Abraham, CR; + view all (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; deSilva, HAR; (1996) beta-amyloid-mediated inhibition of redox activity (MTT reduction) is not an indicator of astroglial degeneration. NEUROREPORT , 7 (12) 2026 - 2030. 10.1097/00001756-199608120-00035.

Patel, AJ; Wickenden, C; Jen, A; deSilva, HAR; (1996) Glial cell derived neurotrophic factors and Alzheimer's disease. NEURODEGENERATION , 5 (4) 489 - 496. 10.1006/neur.1996.0068.

Xia, Y; deSilva, HAR; Rosi, BL; Yamaoka, LH; Rimmler, JB; PericakVance, MA; ... Saitoh, T; + view all (1996) Genetic studies in Alzheimer's disease with an NACP/alpha-synuclein polymorphism. ANNALS OF NEUROLOGY , 40 (2) 207 - 215. 10.1002/ana.410400212.

1995

CHEN, X; DESILVA, H; PETTENATI, M; RAO, P; STGEORGEHYSLOP, P; ROSES, A; ... SAITOH, T; + view all (1995) THE HUMAN NACP/ALPHA-SYNUCLEIN GENE - CHROMOSOME ASSIGNMENT TO 4Q21.3-Q22 AND TAQI RFLP ANALYSIS. GENOMICS , 26 (2) 425 - 427. 10.1016/0888-7543(95)80237-G.

COMI, G; CIAFALONI, E; DESILVA, H; PRELLE, A; BARDONI, A; RIGOLETTO, C; ... SCARLATO, G; + view all (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. HUMAN MOLECULAR GENETICS , 4 (11) 2171 - 2174. 10.1093/hmg/4.11.2171.

IWAI, A; MASLIAH, E; YOSHIMOTO, M; GE, N; FLANAGAN, L; DESILVA, H; ... SAITOH, T; + view all (1995) THE PRECURSOR PROTEIN OF NON-A-BETA COMPONENT OF ALZHEIMERS-DISEASE AMYLOID IS A PRESYNAPTIC PROTEIN OF THE CENTRAL-NERVOUS-SYSTEM. NEURON , 14 (2) 467 - 475. 10.1016/0896-6273(95)90302-X.

SHERRINGTON, R; ROGAEV, E; LIANG, Y; ROGAEVA, E; LEVESQUE, G; IKEDA, M; ... STGEORGEHYSLOP, P; + view all (1995) CLONING OF A GENE BEARING MISSENSE MUTATIONS IN EARLY-ONSET FAMILIAL ALZHEIMERS-DISEASE. NATURE , 375 (6534) 754 - 760. 10.1038/375754a0.

Sherrington, R; Rogaev, EI; Liang, Y; Rogaeva, EA; Levesque, G; Ikeda, M; ... St George-Hyslop, PH; + view all (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature , 375 (6534) 734 - 735. 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.

NULL

de Silva, R; Human endopeptidase (THOP1) is localized on chromosome 19 within the linkage region for the late-onset alzheimer disease AD2 locus. 10.1006/geno.1996.0041.

Stamelou, M; de Silva, R; Arias-Carrión, O; Boura, E; Höllerhage, M; Oertel, WH; ... Höglinger, GU; + view all Rational therapeutic approaches to progressive supranuclear palsy. Brain , 133 (6) 1578 - 1590. 10.1093/brain/awq115.

Suh, J; Im, DS; Moon, GJ; Ryu, KS; de Silva, R; Choi, IS; ... Gwag, BJ; + view all Hypoxic ischemia and proteasome dysfunction alter tau isoform ratio by inhibiting exon 10 splicing. Journal of Neurochemistry , 114 (1) 160 - 170. 10.1111/j.1471-4159.2010.06732.x.

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