追蹤
Richard Orrell
Richard Orrell
Associate Professor
在 ucl.ac.uk 的電子郵件地址已通過驗證
標題
引用次數
引用次數
年份
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ...
Neuron 72 (2), 257-268, 2011
47352011
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
E Majounie, AE Renton, K Mok, EGP Dopper, A Waite, S Rollinson, ...
The Lancet Neurology 11 (4), 323-330, 2012
13082012
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
W Van Rheenen, A Shatunov, AM Dekker, RL McLaughlin, FP Diekstra, ...
Nature genetics 48 (9), 1043-1048, 2016
5942016
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1268-1283. e6, 2018
5812018
Expression of IGF‐I splice variants in young and old human skeletal muscle after high resistance exercise
M Hameed, RW Orrell, M Cobbold, G Goldspink, SDR Harridge
The Journal of physiology 547 (1), 247-254, 2003
5782003
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
JO Johnson, EP Pioro, A Boehringer, R Chia, H Feit, AE Renton, ...
Nature neuroscience 17 (5), 664-666, 2014
5172014
Neurofilament light chain: a prognostic biomarker in amyotrophic lateral sclerosis
CH Lu, C Macdonald-Wallis, E Gray, N Pearce, A Petzold, N Norgren, ...
Neurology 84 (22), 2247-2257, 2015
5042015
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population
J Beck, M Poulter, D Hensman, JD Rohrer, CJ Mahoney, G Adamson, ...
The American Journal of Human Genetics 92 (3), 345-353, 2013
4152013
Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study
A Al-Chalabi, A Calvo, A Chio, S Colville, CM Ellis, O Hardiman, ...
The Lancet Neurology 13 (11), 1108-1113, 2014
4012014
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
W Van Rheenen, RAA Van Der Spek, MK Bakker, JJFA Van Vugt, PJ Hop, ...
Nature genetics 53 (12), 1636-1648, 2021
2802021
C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis
JD Rohrer, AM Isaacs, S Mizielinska, S Mead, T Lashley, S Wray, K Sidle, ...
The Lancet Neurology 14 (3), 291-301, 2015
2782015
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
A Shatunov, K Mok, S Newhouse, ME Weale, B Smith, C Vance, ...
The Lancet Neurology 9 (10), 986-994, 2010
2732010
Diffusion tensor imaging detects corticospinal tract involvement at multiple levels in amyotrophic lateral sclerosis
AT Toosy, DJ Werring, RW Orrell, RS Howard, MD King, GJ Barker, ...
Journal of Neurology, Neurosurgery & Psychiatry 74 (9), 1250-1257, 2003
2422003
The sex ratio in amyotrophic lateral sclerosis: A population based study
ZR Manjaly, KM Scott, K Abhinav, L Wijesekera, J Ganesalingam, ...
Amyotrophic Lateral Sclerosis 11 (5), 439-442, 2010
2342010
Probabilistic diffusion tractography: a potential tool to assess the rate of disease progression in amyotrophic lateral sclerosis
O Ciccarelli, TE Behrens, DR Altmann, RW Orrell, RS Howard, ...
Brain 129 (7), 1859-1871, 2006
2342006
Coexistent hereditary and inflammatory neuropathy
L Ginsberg, O Malik, AR Kenton, D Sharp, JR Muddle, MB Davis, ...
Brain 127 (1), 193-202, 2004
1992004
Amyotrophic lateral sclerosis in South-East England: A population-based study: The South-East England Register for Amyotrophic Lateral Sclerosis (SEALS Registry)
K Abhinav, B Stanton, C Johnston, J Hardstaff, RW Orrell, R Howard, ...
Neuroepidemiology 29 (1-2), 44-48, 2007
1862007
Pathogenesis of amyotrophic lateral sclerosis
S Morgan, RW Orrell
British medical bulletin 119 (1), 87-97, 2016
1792016
The chromosome 9 ALS and FTD locus is probably derived from a single founder
K Mok, BJ Traynor, J Schymick, PJ Tienari, H Laaksovirta, T Peuralinna, ...
Neurobiology of aging 33 (1), 209. e3-209. e8, 2012
1752012
Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels
F Bartolome, HC Wu, VS Burchell, E Preza, S Wray, CJ Mahoney, NC Fox, ...
Neuron 78 (1), 57-64, 2013
1722013
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