Search Results - "Beck, Jonathan A"

Identification of Multiple Quantitative Trait Loci Linked to Prion Disease Incubation Period in Mice by Lloyd, Sarah E., Onwuazor, Obia N., Beck, Jonathan A., Mallinson, Gary, Farrall, Martin, Targonski, Paul, Collinge, John, Elizabeth M. C. Fisher

“…Polymorphisms in the prion protein gene are known to affect prion disease incubation times and susceptibility in humans and mice. However, studies with inbred…”
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Methods for Molecular Diagnosis of Human Prion Disease by Wadsworth, Jonathan D F, Adamson, Gary, Joiner, Susan, Brock, Lara, Powell, Caroline, Linehan, Jacqueline M, Beck, Jonathan A, Brandner, Sebastian, Mead, Simon, Collinge, John

“…Human prion diseases are associated with a range of clinical presentations, and they are classified by both clinicopathological syndrome and etiology, with…”
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R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia by Slattery, Catherine F, Beck, Jonathan A, Harper, Lorna, Adamson, Gary, Abdi, Zeinab, Uphill, James, Campbell, Tracy, Druyeh, Ron, Mahoney, Colin J, Rohrer, Jonathan D, Kenny, Janna, Lowe, Jessica, Leung, Kelvin K, Barnes, Josephine, Clegg, Shona L, Blair, Melanie, Nicholas, Jennifer M, Guerreiro, Rita J, Rowe, James B, Ponto, Claudia, Zerr, Inga, Kretzschmar, Hans, Gambetti, Pierluigi, Crutch, Sebastian J, Warren, Jason D, Rossor, Martin N, Fox, Nick C, Collinge, John, Schott, Jonathan M, Mead, Simon

“…Abstract Background Rare TREM2 variants are significant risk factors for Alzheimer's disease (AD). Methods We used next generation sequencing of the whole gene…”
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Balancing Selection at the Prion Protein Gene Consistent with Prehistoric Kurulike Epidemics by Mead, Simon, Michael P. H. Stumpf, Whitfield, Jerome, Beck, Jonathan A., Poulter, Mark, Campbell, Tracy, Uphill, James B., Goldstein, David, Alpers, Michael, Elizabeth M. C. Fisher, Collinge, John

“…Kuru is an acquired prion disease largely restricted to the Fore linguistic group of the Papua New Guinea Highlands, which was transmitted during…”
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Identification and characterization of a novel mouse prion gene allele by Lloyd, Sarah E, Thompson, Simon R, Beck, Jonathan A, Linehan, Jacqueline M, Wadsworth, Jonathan D F, Brandner, Sebastian, Collinge, John, Fisher, Elizabeth M C

“…The major determinant of prion disease incubation time in mice is thought to be the amino acid sequence of the prion protein. Two alleles of the mouse prion…”
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Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations by Hill, Andrew F., Joiner, Susan, Beck, Jonathan A., Campbell, Tracy A., Dickinson, Andrew, Poulter, Mark, Wadsworth, Jonathan D. F., Collinge, John

“…Inherited prion diseases are neurodegenerative disorders caused by autosomal dominant mutations in the human prion protein gene (PRNP). Kindred with inherited…”
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Molecular diagnosis of human prion disease by Wadsworth, Jonathan D F, Powell, Caroline, Beck, Jonathan A, Joiner, Susan, Linehan, Jacqueline M, Brandner, Sebastian, Mead, Simon, Collinge, John

“…Human prion diseases are associated with a range of clinical presentations, and they are classified by both clinicopathological syndrome and etiology, with…”
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Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease by Beck, Jonathan A., Poulter, Mark, Campbell, Tracy A., Uphill, James B., Adamson, Gary, Geddes, Jennian F., Revesz, Tamas, Davis, Mary B., Wood, Nicholas W., Collinge, John, Tabrizi, Sarah J.

“…Alzheimer's disease (AD) is the commonest neurodegenerative disease worldwide. Rare familial cases may be caused by mutations in one of three genes—amyloid…”
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Molecular and clinical classification of human prion disease by Wadsworth, Jonathan DF, Hill, Andrew F, Beck, Jonathan A, Collinge, John

“…While rare in humans, the prion diseases have become an area of intense clinical and scientific interest. The recognition that variant Creutzfeldt-Jakob…”
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Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina by Sergouniotis, Panagiotis I., Davidson, Alice E., Mackay, Donna S., Lenassi, Eva, Li, Zheng, Robson, Anthony G., Yang, Xu, Kam, Jaimie Hoh, Isaacs, Timothy W., Holder, Graham E., Jeffery, Glen, Beck, Jonathan A., Moore, Anthony T., Plagnol, Vincent, Webster, Andrew R.

“…Flecked-retina syndromes, including fundus flavimaculatus, fundus albipunctatus, and benign fleck retina, comprise a group of disorders with widespread or…”
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HLA-DQ7 antigen and resistance to variant CJD by JACKSON, Graham S, BECK, Jonathan A, NAVARRETE, Cristina, BROWN, Juliette, SUTTON, P. Margaret, CONTRERAS, Marcela, COLLINGE, John

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Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK by Palmer, Mark S., Beck, Jonathan A., Campbell, Tracy A., Humphries, Christine B., Roques, Penelope K., Fox, Nick C., Harvey, Richard, Rossor, Martin N., Collinge, John

“…Familial Alzheimer's disease (AD) is an autosomal dominant disorder characterized by memory impairment and multiple cognitive deficits which occurs in mid to…”
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Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A sub(2), Cause Benign Fleck Retina by Sergouniotis, Panagiotis I, Davidson, Alice E, Mackay, Donna S, Lenassi, Eva, Li, Zheng, Robson, Anthony G, Yang, Xu, Kam, Jaimie Hoh, Isaacs, Timothy W, Holder, Graham E, Jeffery, Glen, Beck, Jonathan A, Moore, Anthony T, Plagnol, Vincent, Webster, Andrew R

“…Flecked-retina syndromes, including fundus flavimaculatus, fundus albipunctatus, and benign fleck retina, comprise a group of disorders with widespread or…”
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Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A^sub 2^, Cause Benign Fleck Retina by Sergouniotis, Panagiotis I, Davidson, Alice E, Mackay, Donna S, Lenassi, Eva, Li, Zheng, Robson, Anthony G, Yang, Xu, Kam, Jaimie Hoh, Isaacs, Timothy W, Holder, Graham E, Jeffery, Glen, Beck, Jonathan A, Moore, Anthony T, Plagnol, Vincent, Webster, Andrew R

“…Flecked-retina syndromes, including fundus flavimaculatus, fundus albipunctatus, and benign fleck retina, comprise a group of disorders with widespread or…”
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Pathogenesis HLA-DQ7 antigen and resistance to variant CJD by Collinge, John, Jackson, Graham S, Beck, Jonathan A, Navarrete, Cristina, Brown, Juliette, Sutton, P. Margaret, Contreras, Marcela

“…Variant Creutzfeldt-Jakob disease (vCJD) in humans is caused by a bovine spongiform encephalopathy (BSE)-like prion strain, and so far about 100 of the many…”
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Creutzfeldt-Jakob disease, prion protein gene codon 129VV, and a novel PrPSc type in a young British woman by Mead, Simon, Joiner, Susan, Desbruslais, Melanie, Beck, Jonathan A, O'Donoghue, Michael, Lantos, Peter, Wadsworth, Jonathan D F, Collinge, John

“…Variant Creutzfeldt-Jakob disease (vCJD) is an acquired prion disease causally related to bovine spongiform encephalopathy that has occurred predominantly in…”
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O3-02-01 Nuclear somatic mosaicim in sporadic early-onset Alzheimer's disease by Beck, Jonathan A., Poulter, Mark, Campbell, Tracy, Uphill, James B., Adamson, Gary, Geddes, Jennian F., Revesz, Tamas, Davis, Mary, Wood, Nicholas W., Collinge, John, Tabrizi, Sarah J.

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Molecular and clinical classification of human prion disease: Prions for physicians by WADSWORTH, Jonathan D. F, HILL, Andrew F, BECK, Jonathan A, COLLINGE, John

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Mapping of a novel SH3 domain protein and two proteins of unknown function to human chromosome 21 by KATSANIS, N, BECK, J. A, FISHER, E. M. C

“…Down syndrome, caused by trisomy of human chromosome 21 (HSA21), is the most common autosomal form of mental retardation. To understand the aetiology of the…”
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