Search Results - "Shaw, C. E."

An estimate of amyotrophic lateral sclerosis heritability using twin data by Al-Chalabi, A, Fang, F, Hanby, M F, Leigh, P N, Shaw, C E, Ye, W, Rijsdijk, F

“…BackgroundCausative gene mutations have been identified in about 2% of those with amyotrophic lateral sclerosis (ALS), often, but not always, when there is a…”
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Natural history and clinical features of the flail arm and flail leg ALS variants by WIJESEKERA, L. C, MATHERS, S, AL-CHALABI, A, LEIGH, P. N, TALMAN, P, GALTREY, C, PARKINSON, M. H, GANESALINGAM, J, WILLEY, E, AMPONG, M. A, ELLIS, C. M, SHAW, C. E

“…We sought to define the significance of brachial amyotrophic diplegia (flail arm syndrome [FA]) and the pseudopolyneuritic variant (flail leg syndrome [FL]) of…”
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Preprocessing surface EMG data removes voluntary muscle activity and enhances SPiQE fasciculation analysis by Bashford, J., Wickham, A., Iniesta, R., Drakakis, E., Boutelle, M., Mills, K., Shaw, CE

“…•A novel preprocessing step removes the need for manual selection of relaxed surface EMG data.•SPiQE provides reliable fasciculation analysis from raw…”
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Proteome-based plasma biomarkers for Alzheimer's disease by Hye, A., Lynham, S., Thambisetty, M., Causevic, M., Campbell, J., Byers, H. L., Hooper, C., Rijsdijk, F., Tabrizi, S. J., Banner, S., Shaw, C. E., Foy, C., Poppe, M., Archer, N., Hamilton, G., Powell, J., Brown, R. G., Sham, P., Ward, M., Lovestone, S.

“…Alzheimer's disease is a common and devastating disease for which there is no readily available biomarker to aid diagnosis or to monitor disease progression…”
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Fasciculation electromechanical latency is prolonged in amyotrophic lateral sclerosis by Planinc, D, Muhamood, N, Cabassi, C, Iniesta, R, Shaw, CE, Hodson-Tole, E, Bashford, J

“…•Aligned, automated outputs from muscle ultrasound and surface electromyography improved characterisation of fasciculations.•The latency between electrical and…”
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Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis by Ticozzi, N., Vance, C., LeClerc, A.L., Keagle, P., Glass, J.D., McKenna-Yasek, D., Sapp, P.C., Silani, V., Bosco, D.A., Shaw, C.E., Brown Jr, R.H., Landers, J.E.

“…FUS, EWS, and TAF15 belong to the TET family of structurally similar DNA/RNA‐binding proteins. Mutations in the FUS gene have recently been discovered as a…”
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SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis by Wicks, P., Abrahams, S., Papps, B., Al-Chalabi, A., Shaw, C. E., Leigh, P. N., Goldstein, L. H.

“…Background Sporadic Amyotrophic Lateral Sclerosis (sALS) is associated with frontotemporal dementia (ALS-FTD) or milder deficits of cognitive (predominantly…”
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Proteomic analyses reveal that loss of TDP-43 affects RNA processing and intracellular transport by Štalekar, M, Yin, X, Rebolj, K, Darovic, S, Troakes, C, Mayr, M, Shaw, C.E, Rogelj, B

“…Highlights • TDP-43 regulates RNA metabolism and intracellular transport at the proteome level. • Silencing of TDP-43 in SH-SY5Y cells differentially regulates…”
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Transportin 1 colocalization with Fused in Sarcoma (FUS) inclusions is not characteristic for amyotrophic lateral sclerosis-FUS confirming disrupted nuclear import of mutant FUS and distinguishing it from frontotemporal lobar degeneration with FUS inclusions by Troakes, C., Hortobágyi, T., Vance, C., Al-Sarraj, S., Rogelj, B., Shaw, C. E.

“…C. Troakes, T. Hortobágyi, C. Vance, S. Al‐Sarraj, B. Rogelj and C. E. Shaw (2013) Neuropathology and Applied Neurobiology39, 553–561 Transportin 1…”
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Evidence of widespread cerebral microglial activation in amyotrophic lateral sclerosis: an [ 11C](R)-PK11195 positron emission tomography study by Turner, M.R, Cagnin, A, Turkheimer, F.E, Miller, C.C.J, Shaw, C.E, Brooks, D.J, Leigh, P.N, Banati, R.B

“…Microglial activation is implicated in the pathogenesis of ALS and can be detected in animal models of the disease that demonstrate increased survival when…”
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A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS by WILLS, A.-M, CRONIN, S, ROULEAU, G. A, FISHER, E. M. C, SHAW, P. J, MORRISON, K. E, PAMPHLETT, R, VAN DEN BERG, L. H, FIGLEWICZ, D. A, ANDERSEN, P. M, AL-CHALABI, A, HARDIMAN, O, SLOWIK, A, PURCELL, S, LANDERS, J. E, BROWN, Rh, KASPERAVICIUTE, D, VAN ES, M. A, MORAHAN, J. M, VALDMANIS, P. N, MEININGER, V, MELKI, J, SHAW, C. E

“…Six candidate gene studies report a genetic association of DNA variants within the paraoxonase locus with sporadic amyotrophic lateral sclerosis (ALS)…”
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Prolonged survival in motor neuron disease: a descriptive study of the King’s database 1990–2002 by Turner, M R, Parton, M J, Shaw, C E, Leigh, P N, Al-Chalabi, A

“…Motor neuron disease is a clinically heterogeneous disease with significant differences in survival. The authors have characterised a subset of long term…”
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[11C]-WAY100635 PET demonstrates marked 5-HT1A receptor changes in sporadic ALS by Turner, M. R., Rabiner, E. A., Hammers, A., Al-Chalabi, A., Grasby, P. M., Shaw, C. E., Brooks, D. J., Leigh, P. N.

“…The pathogenesis of amyotrophic lateral sclerosis (ALS) remains obscure, but it is now clear that neuronal loss is not confined to the motor cortex, even in…”
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New VAPB deletion variant and exclusion of VAPB mutations in familial ALS by LANDERS, J. E, LECLERC, A. L, AL-CHALABI, A, SHAW, C. E, LEIGH, P. N, RODRIGUEZ-LEYZA, I, MCKENNA-YASEK, D, SAPP, P. C, BROWN, R. H, SHI, L, VIRKUD, A, CHO, T, MAXWELL, M. M, HENRY, A. F, POLAK, M, GLASS, J. D, KWIATKOWSKI, T. J

“…Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disorder involving upper and lower motor neurons. The vesicle-associated membrane…”
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Racial and Ethnic Disparities in Survival in Lung Transplant Candidates with Idiopathic Pulmonary Fibrosis by Lederer, D. J., Caplan‐Shaw, C. E., O'Shea, M. K., Wilt, J. S., Basner, R. C., Bartels, M. N., Sonett, J. R., Arcasoy, S. M., Kawut, S. M.

“…Minority patients have worse outcomes than nonminority patients in a variety of pulmonary diseases. We aimed to compare the survival of Black and Hispanic…”
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Distinct cerebral lesions in sporadic and ‘D90A’ SOD1 ALS: studies with [11C]flumazenil PET by Turner, M. R., Hammers, A., Al-Chalabi, A., Shaw, C. E., Andersen, P. M., Brooks, D. J., Leigh, P. N.

“…Five to ten percent of amyotrophic lateral sclerosis (ALS) cases are associated with mutations of the superoxide dismutase-1 (SOD1) gene, and the ‘D90A’…”
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Amyotrophic lateral sclerosis in South-East England: a population-based study. The South-East England register for amyotrophic lateral sclerosis (SEALS Registry) by Abhinav, K, Stanton, B, Johnston, C, Hardstaff, J, Orrell, R W, Howard, R, Clarke, J, Sakel, M, Ampong, M-A, Shaw, C E, Leigh, P N, Al-Chalabi, A

“…We aimed to estimate the incidence and prevalence of amyotrophic lateral sclerosis (ALS) in the South East of England. The reported incidence of ALS varies…”
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Amyotrophic lateral sclerosis mutant vesicle-associated membrane protein-associated protein-B transgenic mice develop TAR-DNA-binding protein-43 pathology by Tudor, E.L, Galtrey, C.M, Perkinton, M.S, Lau, K.-F, De Vos, K.J, Mitchell, J.C, Ackerley, S, Hortobágyi, T, Vámos, E, Leigh, P.N, Klasen, C, McLoughlin, D.M, Shaw, C.E, Miller, C.C.J

“…Abstract Cytoplasmic ubiquitin-positive inclusions containing TAR-DNA-binding protein-43 (TDP-43) within motor neurons are the hallmark pathology of sporadic…”
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Mutations in all five exons of SOD-1 may cause ALS by Shaw, C E, Enayat, Z E, Chioza, B A, Al-Chalabi, A, Radunovic, A, Powell, J F, Leigh, P N

“…Eight of 38 patients (21%) with familial and 5 of 175 patients (3%) with sporadic amyotrophic lateral sclerosis (ALS) had missense mutations in the SOD-1 gene…”
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Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse by TAES, I, GORIS, A, TOMIK, B, BROWN, R. H, SHAW, C. E, AL-CHALABI, A, BOONEN, S, VAN DEN BOSCH, L, DUBOIS, B, VAN DAMME, P, ROBBERECHT, W, LEMMENS, R, VAN ES, M. A, VAN DEN BERG, L. H, CHIO, A, TRAYNOR, B. J, BIRVE, A, ANDERSEN, P, SLOWIK, A

“…The microtubule-associated protein tau is thought to play a pivotal role in neurodegeneration. Mutations in the tau coding gene MAPT are a cause of…”
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