Richard W Orrell
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Explore the profile of Richard W Orrell including associated specialties, affiliations and a list of published articles.
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5469
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Recent Articles
11.
Kearney M, Orrell R, Fahey M, Brassington R, Pandolfo M
Cochrane Database Syst Rev
. 2016 Aug;
(8):CD007791.
PMID: 27572719
Background: Friedreich ataxia is a rare inherited autosomal recessive neurological disorder, characterised initially by unsteadiness in standing and walking, slowly progressing to wheelchair dependency usually in the late teens or...
12.
van Rheenen W, Shatunov A, Dekker A, McLaughlin R, Diekstra F, Pulit S, et al.
Nat Genet
. 2016 Jul;
48(9):1043-8.
PMID: 27455348
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n...
13.
Morgan S, Orrell R
Br Med Bull
. 2016 Jul;
119(1):87-98.
PMID: 27450455
Introduction: Amyotrophic lateral sclerosis (ALS) or motor neuron disease is a rapidly progressive neurodegenerative disorder. The primary involvement is of motor neurons in the brain, spinal cord and peripherally. There...
14.
McDermott C, Bradburn M, Maguire C, Cooper C, Baird W, Baxter S, et al.
Health Technol Assess
. 2016 Jun;
20(45):1-186.
PMID: 27353839
Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease resulting in death, usually from respiratory failure, within 2-3 years of symptom onset. Non-invasive ventilation (NIV) is a treatment that when...
15.
Rohrer J, Isaacs A, Mizielinska S, Mead S, Lashley T, Wray S, et al.
Lancet Neurol
. 2015 Feb;
14(3):291-301.
PMID: 25638642
C9orf72 hexanucleotide repeat expansions are the most common cause of familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. The clinical presentation is often indistinguishable from classic FTD or...
16.
Banerji C, Knopp P, Moyle L, Severini S, Orrell R, Teschendorff A, et al.
J R Soc Interface
. 2015 Jan;
12(102):20140797.
PMID: 25551153
Facioscapulohumeral muscular dystrophy (FSHD) is an incurable disease, characterized by skeletal muscle weakness and wasting. Genetically, FSHD is characterized by contraction or hypomethylation of repeat D4Z4 units on chromosome 4,...
17.
Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study
Al-Chalabi A, Calvo A, Chio A, Colville S, Ellis C, Hardiman O, et al.
Lancet Neurol
. 2014 Oct;
13(11):1108-1113.
PMID: 25300936
Background: Amyotrophic lateral sclerosis shares characteristics with some cancers, such as onset being more common in later life, progression usually being rapid, the disease affecting a particular cell type, and...
18.
Fratta P, Polke J, Newcombe J, Mizielinska S, Lashley T, Poulter M, et al.
Neurobiol Aging
. 2014 Sep;
36(1):546.e1-7.
PMID: 25179228
An expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Although 0-30 hexanucleotide repeats are present in the...
19.
Meininger V, Pradat P, Corse A, Al-Sarraj S, Brooks B, Caress J, et al.
PLoS One
. 2014 May;
9(5):e97803.
PMID: 24841795
Unlabelled: The neurite outgrowth inhibitor, Nogo-A, has been shown to be overexpressed in skeletal muscle in amyotrophic lateral sclerosis (ALS); it is both a potential biomarker and therapeutic target. We...
20.
Johnson J, Pioro E, Boehringer A, Chia R, Feit H, Renton A, et al.
Nat Neurosci
. 2014 Apr;
17(5):664-666.
PMID: 24686783
MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in...