User profiles for Stuart Pickering- Brown
Stuart Pickering-BrownVerified email at manchester.ac.uk Cited by 33919 |
[PDF][PDF] A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
…, NM Williams, P Heutink, S Pickering-Brown… - Neuron, 2011 - cell.com
The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD)
locus contains one of the last major unidentified autosomal-dominant genes underlying these …
locus contains one of the last major unidentified autosomal-dominant genes underlying these …
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
…, M Baker, S Froelich, H Houlden, S Pickering-Brown… - Nature, 1998 - nature.com
Thirteen families have been described with an autosomal dominantly inherited dementia
named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) 1 , 2 , 3 …
named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) 1 , 2 , 3 …
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
M Baker, IR Mackenzie, SM Pickering-Brown, J Gass… - Nature, 2006 - nature.com
Frontotemporal dementia (FTD) is the second most common cause of dementia in people
under the age of 65 years 1 . A large proportion of FTD patients (35–50%) have a family history …
under the age of 65 years 1 . A large proportion of FTD patients (35–50%) have a family history …
[HTML][HTML] Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Background We aimed to accurately estimate the frequency of a hexanucleotide repeat
expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic …
expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic …
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
…, K Josephs, SM Pickering-Brown… - Human molecular …, 2006 - academic.oup.com
Null mutations in the progranulin gene ( PGRN ) were recently reported to cause tau-negative
frontotemporal dementia linked to chromosome 17. We assessed the genetic contribution …
frontotemporal dementia linked to chromosome 17. We assessed the genetic contribution …
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
…, J Pietrzyk, K Cleverley, AJ Nicoll, S Pickering-Brown… - Science, 2014 - science.org
An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of frontotemporal
dementia and amyotrophic lateral sclerosis. A fundamental question is whether toxicity is …
dementia and amyotrophic lateral sclerosis. A fundamental question is whether toxicity is …
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
…, D Neary, DMA Mann, SM Pickering-Brown - Brain, 2012 - academic.oup.com
The identification of a hexanucleotide repeat expansion in the C9ORF72 gene as the cause
of chromosome 9-linked frontotemporal dementia and motor neuron disease offers the …
of chromosome 9-linked frontotemporal dementia and motor neuron disease offers the …
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
…, SE Arnold, DMA Mann, SM Pickering-Brown… - Nature …, 2010 - nature.com
Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile
dementia. The predominant neuropathology is FTLD with TAR DNA-binding protein (TDP-43) …
dementia. The predominant neuropathology is FTLD with TAR DNA-binding protein (TDP-43) …
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies
…, DMA Mann, J Snowden, S Pickering-Brown… - JAMA …, 2013 - jamanetwork.com
Importance While mutations in glucocerebrosidase (GBA1) are associated with an increased
risk for Parkinson disease (PD), it is important to establish whether such mutations are also …
risk for Parkinson disease (PD), it is important to establish whether such mutations are also …
Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43
…, F Baralle, R Bailey, S Pickering-Brown… - Journal of …, 2007 - Soc Neuroscience
TAR DNA binding protein-43 (TDP-43) is the pathologic substrate of neuronal and glial
inclusions in frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTDL-U) and …
inclusions in frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTDL-U) and …