Browse by UCL people
Group by: Type | Date
Number of items: 33.
2024
Young, Carolyn A;
Chaouch, Amina;
Mcdermott, Christopher J;
Al-Chalabi, Ammar;
Chhetri, Suresh K;
Talbot, Kevin;
Harrower, Timothy;
... TONIC-ALS STUDY GROUP; + view all
(2024)
Dyspnea (breathlessness) in amyotrophic lateral sclerosis/motor neuron disease: prevalence, progression, severity, and correlates.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
10.1080/21678421.2024.2322545.
(In press).
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2023
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Balendra, R;
Orrell, RW;
Pearce, N;
Al-Chalabi, A;
(2023)
Disease‐modifying pharmacological treatments for amyotrophic lateral sclerosis/motor neuron disease: an overview of intervention reviews.
Cochrane Database of Systematic Reviews
, 2023
(3)
, Article CD014202. 10.1002/14651858.CD014202.
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Fisher, Elizabeth MC;
Greensmith, Linda;
Malaspina, Andrea;
Fratta, Pietro;
Hanna, Michael G;
Schiavo, Giampietro;
Isaacs, Adrian M;
... Arozena, Abraham Acevedo; + view all
(2023)
Opinion: more mouse models and more translation needed for ALS.
Molecular Neurodegeneration
, 18
(1)
, Article 30. 10.1186/s13024-023-00619-2.
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Orrell, Richard W;
Guiloff, Roberto J;
(2023)
Clinical aspects of motor neurone disease.
Medicine
, 51
(9)
pp. 658-662.
10.1016/j.mpmed.2023.06.009.
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2021
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Dewan, R;
Chia, R;
Ding, J;
Hickman, RA;
Stein, TD;
Abramzon, Y;
Ahmed, S;
... Traynor, BJ; + view all
(2021)
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Neuron
, 109
(3)
448-460.e4.
10.1016/j.neuron.2020.11.005.
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Johnson, JO;
Chia, R;
Miller, DE;
Li, R;
Kumaran, R;
Abramzon, Y;
Alahmady, N;
... Turner, MR; + view all
(2021)
Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis.
JAMA Neurology
10.1001/jamaneurol.2021.2598.
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van Rheenen, W;
van der Spek, RAA;
Bakker, MK;
van Vugt, JJFA;
Hop, PJ;
Zwamborn, RAJ;
de Klein, N;
... Veldink, JH; + view all
(2021)
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Nature Genetics
, 53
(12)
pp. 1636-1648.
10.1038/s41588-021-00973-1.
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2020
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Orrell, RW;
Al-Mayhani, T;
(2020)
GPs should be vigilant for acute deterioration in myasthenia gravis.
The Practitioner
, 264
(1840)
pp. 15-19.
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Orrell, RW;
Guiloff, RJ;
(2020)
Clinical aspects of motor neurone disease.
Medicine
, 48
(9)
pp. 607-611.
10.1016/j.mpmed.2020.06.006.
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Young, CA;
Mills, R;
Al-Chalabi, A;
Burke, G;
Chandran, S;
Dick, DJ;
Ealing, J;
... Roberts, RC; + view all
(2020)
Measuring quality of life in ALS/MND: validation of the WHOQOL-BREF.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
, 21
(5-6)
pp. 364-372.
10.1080/21678421.2020.1752244.
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2019
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Bandres-Ciga, S;
Noyce, AJ;
Hemani, G;
Nicolas, A;
Calvo, A;
Mora, G;
Tienari, PJ;
... Traynor, BJ; + view all
(2019)
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis.
Annals of Neurology
, 85
(4)
pp. 470-481.
10.1002/ana.25431.
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2018
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Nicolas, A;
Kenna, KP;
Renton, AE;
Ticozzi, N;
Faghri, F;
Chia, R;
Dominov, JA;
... Landers, JE; + view all
(2018)
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Neuron
, 97
(6)
1268-1283.e6.
10.1016/j.neuron.2018.02.027.
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2017
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Mcgeachan, AJ;
Hobson, EV;
Al-Chalabi, A;
Stephenson, J;
Chandran, S;
Crawley, F;
Dick, D;
... Mcdermott, CJ; + view all
(2017)
A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosis.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
, 18
(1-2)
pp. 1-9.
10.1080/21678421.2016.1221433.
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McLaughlin, RL;
Schijven, D;
Van Rheenen, W;
Van Eijk, KR;
O'Brien, M;
Kahn, RS;
Ophoff, RA;
... Cichon, S; + view all
(2017)
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.
Nature Communications
, 8
, Article 14774. 10.1038/ncomms14774.
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Morgan, S;
Shatunov, A;
Sproviero, W;
Jones, AR;
Shoai, M;
Hughes, D;
Al Khleifat, A;
... Al-Chalabi, A; + view all
(2017)
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Brain
, 140
(6)
pp. 1611-1618.
10.1093/brain/awx082.
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Sproviero, W;
Shatunov, A;
Stahl, D;
Shoai, M;
van Rheenen, W;
Jones, AR;
Al-Sarraj, S;
... Al-Chalabi, A; + view all
(2017)
ATXN2 trinucleotide repeat length correlates with risk of ALS.
Neurobiology of Aging
, 51
178.e1-178.e9.
10.1016/j.neurobiolaging.2016.11.010.
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Wood, L;
Cordts, I;
Atalaia, A;
Marini-Bettolo, C;
Maddison, P;
Phillips, M;
Roberts, M;
... Lochmuller, H; + view all
(2017)
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research.
Journal of Neurology
, 264
(5)
pp. 979-988.
10.1007/s00415-017-8483-2.
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2016
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Evangelista, T;
Wood, L;
Fernandez-Torron, R;
Williams, M;
Smith, D;
Lunt, P;
Hudson, J;
... Lochmüller, H; + view all
(2016)
Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.
Journal of Neurology
, 263
(7)
pp. 1432-1459.
10.1007/s00415-016-8132-1.
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Kearney, M;
Orrell, RW;
Fahey, M;
Brassington, R;
Pandolfo, M;
(2016)
Pharmacological treatments for Friedreich ataxia.
Cochrane Database of Systematic Reviews
(8)
, Article CD007791. 10.1002/14651858.CD007791.pub4.
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Lu, CH;
Allen, K;
Oei, F;
Leoni, E;
Kuhle, J;
Tree, T;
Fratta, P;
... Malaspina, A; + view all
(2016)
Systemic inflammatory response and neuromuscular involvement in amyotrophic lateral sclerosis.
Neurology: Neuroimmunology & Neuroinflammation
, 3
(4)
, Article e244. 10.1212/NXI.0000000000000244.
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McDermott, CJ;
Bradburn, MJ;
Maguire, C;
Cooper, CL;
Baird, WO;
Baxter, SK;
Cohen, J;
... Shaw, PJ; + view all
(2016)
DiPALS: Diaphragm Pacing in patients with Amyotrophic Lateral Sclerosis - a randomised controlled trial.
Health Technology Assessment
, 20
(45)
10.3310/hta20450.
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Morgan, S;
Orrell, RW;
(2016)
Pathogenesis of amyotrophic lateral sclerosis.
British Medical Bulletin
, 119
(1)
pp. 87-97.
10.1093/bmb/ldw026.
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Orrell, RW;
(2016)
Diagnosis and management of motor neurone disease.
The Practitioner
, 260
(1796)
pp. 17-21.
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Orrell, RW;
(2016)
ALS2-related disorders.
GeneReviews
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van Rheenen, W;
Shatunov, A;
Dekker, AM;
McLaughlin, RL;
Diekstra, FP;
Pulit, SL;
van der Spek, RAA;
... Veldink, JH; + view all
(2016)
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
Nature Genetics
, 48
(9)
pp. 1043-1048.
10.1038/ng.3622.
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2015
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Fratta, P;
Polke, JM;
Newcombe, J;
Mizielinska, S;
Lashley, T;
Poulter, M;
Beck, J;
... Fisher, EM; + view all
(2015)
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion.
Neurobiology of Aging
, 36
(1)
546.e1-546.e7.
10.1016/j.neurobiolaging.2014.07.037.
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Lu, C-H;
Macdonald-Wallis, C;
Gray, E;
Pearce, N;
Petzold, A;
Norgren, N;
Giovannoni, G;
... Malaspina, A; + view all
(2015)
Neurofilament light chain A prognostic biomarker in amyotrophic lateral sclerosis.
Neurology
, 84
(22)
pp. 2247-2257.
10.1212/WNL.0000000000001642.
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Lu, CH;
Petzold, A;
Topping, J;
Allen, K;
Macdonald-Wallis, C;
Clarke, J;
Pearce, N;
... Malaspina, A; + view all
(2015)
Plasma neurofilament heavy chain levels and disease progression in amyotrophic lateral sclerosis: insights from a longitudinal study.
Journal of Neurology, Neurosurgery & Psychiatry
, 86
(5)
pp. 565-573.
10.1136/jnnp-2014-307672.
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2013
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Bartolome, F;
Wu, HC;
Burchell, VS;
Preza, E;
Wray, S;
Mahoney, CJ;
Fox, NC;
... Plun-Favreau, H; + view all
(2013)
Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels.
Neuron
, 78
(1)
57 - 64.
10.1016/j.neuron.2013.02.028.
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Fratta, P;
Charnock, J;
Collins, T;
Devoy, A;
Howard, R;
Malaspina, A;
Orrell, R;
... Fisher, EM; + view all
(2013)
Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
, 85
pp. 506-508.
10.1136/jnnp-2013-306761.
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2012
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Majounie, E;
Renton, AE;
Mok, K;
Dopper, EG;
Waite, A;
Rollinson, S;
Chiò, A;
... Traynor, BJ; + view all
(2012)
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
Lancet Neurology
, 11
(4)
323 - 330.
10.1016/S1474-4422(12)70043-1.
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Mok, K;
Traynor, BJ;
Schymick, J;
Tienari, PJ;
Laaksovirta, H;
Peuralinna, T;
Myllykangas, L;
... Hardy, J; + view all
(2012)
Chromosome 9 ALS and FTD locus is probably derived from a single founder.
Neurobiology of Disease
, 33
(1)
209.e3 - 209.e8.
10.1016/j.neurobiolaging.2011.08.005.
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2011
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Turner, MR;
Grosskreutz, J;
Kassubek, J;
Abrahams, S;
Agosta, F;
Benatar, M;
Filippi, M;
... Wittstock, M; + view all
(2011)
Towards a neuroimaging biomarker for amyotrophic lateral sclerosis.
The Lancet Neurology
, 10
(5)
pp. 400-403.
10.1016/S1474-4422(11)70049-7.
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