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Richard W Orrell

Explore the profile of Richard W Orrell including associated specialties, affiliations and a list of published articles. Areas
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Articles 62
Citations 5469
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Recent Articles
21.
Docherty R, Ginsberg L, Jadoon S, Orrell R, Bhattacharjee A
Pain . 2013 May; 154(9):1569-1577. PMID: 23707266
TRPA1 is an ion channel of the TRP family that is expressed in some sensory neurons. TRPA1 activity provokes sensory symptoms of peripheral neuropathy, such as pain and paraesthesia. We...
22.
Hobson E, McGeachan A, Al-Chalabi A, Chandran S, Crawley F, Dick D, et al.
Amyotroph Lateral Scler Frontotemporal Degener . 2013 May; 14(7-8):521-7. PMID: 23647474
Our objective was to better understand UK-wide practice in managing sialorrhoea in motor neuron disease among specialist clinicians. We used a survey of neurologists in the UK with a special...
23.
Mok K, Laaksovirta H, Tienari P, Peuralinna T, Myllykangas L, Chio A, et al.
Eur J Hum Genet . 2013 Apr; 21(12):1429-35. PMID: 23612577
Amyotrophic lateral sclerosis (ALS) may appear to be familial or sporadic, with recognised dominant and recessive inheritance in a proportion of cases. Sporadic ALS may be caused by rare homozygous...
24.
Bartolome F, Wu H, Burchell V, Preza E, Wray S, Mahoney C, et al.
Neuron . 2013 Mar; 78(1):57-64. PMID: 23498975
Valosin-containing protein (VCP) is a highly expressed member of the type II AAA+ ATPase family. VCP mutations are the cause of inclusion body myopathy, Paget's disease of the bone, and...
25.
Beck J, Poulter M, Hensman D, Rohrer J, Mahoney C, Adamson G, et al.
Am J Hum Genet . 2013 Feb; 92(3):345-53. PMID: 23434116
Hexanucleotide repeat expansions in C9orf72 are a major cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Understanding the disease mechanisms and a method for clinical diagnostic genotyping...
26.
Orrell R
Practitioner . 2012 Dec; 256(1754):21-4, 2-3. PMID: 23252132
Muscular dystrophy refers to a range of muscle diseases caused by defects in muscle proteins, leading to death of the muscle cells, with loss of muscle tissue, and weakness. The...
27.
Kearney M, Orrell R, Fahey M, Pandolfo M
Cochrane Database Syst Rev . 2012 Apr; (4):CD007791. PMID: 22513953
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...
28.
Majounie E, Renton A, Mok K, Dopper E, Waite A, Rollinson S, et al.
Lancet Neurol . 2012 Mar; 11(4):323-30. PMID: 22406228
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 lateral sclerosis (ALS)...
29.
Orrell R
Practitioner . 2011 Oct; 255(1743):19-22, 2. PMID: 22032111
Motor neurone disease (MND) is a rapidly progressive neurodegenerative condition. It affects people of all ages, but is more common with increasing age (especially over 50 years) and men are...
30.
Renton A, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs J, et al.
Neuron . 2011 Sep; 72(2):257-68. PMID: 21944779
The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder...