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Items: 1 to 50 of 128

1.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

2.

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Morgan S, Shatunov A, Sproviero W, Jones AR, Shoai M, Hughes D, Al Khleifat A, Malaspina A, Morrison KE, Shaw PJ, Shaw CE, Sidle K, Orrell RW, Fratta P, Hardy J, Pittman A, Al-Chalabi A.

Brain. 2017 Jun 1;140(6):1611-1618. doi: 10.1093/brain/awx082.

3.

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research.

Wood L, Cordts I, Atalaia A, Marini-Bettolo C, Maddison P, Phillips M, Roberts M, Rogers M, Hammans S, Straub V, Petty R, Orrell R, Monckton DG, Nikolenko N, Jimenez-Moreno AC, Thompson R, Hilton-Jones D, Turner C, Lochmüller H.

J Neurol. 2017 May;264(5):979-988. doi: 10.1007/s00415-017-8483-2. Epub 2017 Apr 10.

4.

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, Gaastra B, Gellera C, Gitler AD, Hardy J, Fratta P, La Bella V, Le Ber I, Van Langenhove T, Lattante S, Lee YC, Malaspina A, Meininger V, Millecamps S, Orrell R, Rademakers R, Robberecht W, Rouleau G, Ross OA, Salachas F, Sidle K, Smith BN, Soong BW, Sorarù G, Stevanin G, Kabashi E, Troakes C, van Broeckhoven C, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Al-Chalabi A.

Neurobiol Aging. 2017 Mar;51:178.e1-178.e9. doi: 10.1016/j.neurobiolaging.2016.11.010. Epub 2016 Nov 24.

5.

A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosis.

McGeachan AJ, Hobson EV, Al-Chalabi A, Stephenson J, Chandran S, Crawley F, Dick D, Donaghy C, Ellis CM, Gorrie G, Hanemann CO, Harrower T, Jung A, Malaspina A, Morrison KE, Orrell RW, Talbot K, Turner MR, Williams TL, Young CA, Shaw PJ, McDermott CJ.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Feb;18(1-2):1-9. doi: 10.1080/21678421.2016.1221433. Epub 2016 Aug 31. Erratum in: Amyotroph Lateral Scler Frontotemporal Degener. 2017 Feb;18(1-2):152.

6.

Diagnosis and management of motor neurone disease.

Orrell RW.

Practitioner. 2016 Sep;260(1796):17-21. Review.

PMID:
29116729
7.

Pharmacological treatments for Friedreich ataxia.

Kearney M, Orrell RW, Fahey M, Brassington R, Pandolfo M.

Cochrane Database Syst Rev. 2016 Aug 30;(8):CD007791. doi: 10.1002/14651858.CD007791.pub4. Review.

8.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN, Pansarasa O, Cereda C, Del Bo R, Comi GP, D'Alfonso S, Bertolin C, Sorarù G, Mazzini L, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C, Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ; PARALS Registry; SLALOM Group; SLAP Registry; FALS Sequencing Consortium; SLAGEN Consortium; NNIPPS Study Group, Blair I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T, Stubendorff B, Kurth I, Hübner CA, Leigh PN, Casale F, Chio A, Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC, Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Corcia P, Vourc'h P, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA, Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH, Veldink JH.

Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25.

9.

Pathogenesis of amyotrophic lateral sclerosis.

Morgan S, Orrell RW.

Br Med Bull. 2016 Sep;119(1):87-98. doi: 10.1093/bmb/ldw026. Epub 2016 Jul 22. Review.

PMID:
27450455
10.

DiPALS: Diaphragm Pacing in patients with Amyotrophic Lateral Sclerosis - a randomised controlled trial.

McDermott CJ, Bradburn MJ, Maguire C, Cooper CL, Baird WO, Baxter SK, Cohen J, Cantrill H, Dixon S, Ackroyd R, Baudouin S, Bentley A, Berrisford R, Bianchi S, Bourke SC, Darlison R, Ealing J, Elliott M, Fitzgerald P, Galloway S, Hamdalla H, Hanemann CO, Hughes P, Imam I, Karat D, Leek R, Maynard N, Orrell RW, Sarela A, Stradling J, Talbot K, Taylor L, Turner M, Simonds AK, Williams T, Wedzicha W, Young C, Shaw PJ.

Health Technol Assess. 2016 Jun;20(45):1-186. doi: 10.3310/hta20450.

11.

Systemic inflammatory response and neuromuscular involvement in amyotrophic lateral sclerosis.

Lu CH, Allen K, Oei F, Leoni E, Kuhle J, Tree T, Fratta P, Sharma N, Sidle K, Howard R, Orrell R, Fish M, Greensmith L, Pearce N, Gallo V, Malaspina A.

Neurol Neuroimmunol Neuroinflamm. 2016 Jun 1;3(4):e244. doi: 10.1212/NXI.0000000000000244. eCollection 2016 Aug.

12.

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmüller H.

J Neurol. 2016 Jul;263(7):1401-8. doi: 10.1007/s00415-016-8132-1. Epub 2016 May 9.

13.

ALS2-Related Disorders.

Orrell RW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2005 Oct 21 [updated 2016 Jan 28].

14.

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.

Abdelkarim S, Morgan S, Plagnol V, Lu CH, Adamson G, Howard R, Malaspina A, Orrell R, Sharma N, Sidle K, Clarke J, Fox NC, Rossor MN, Warren JD, Clark CN, Rohrer JD, Fisher EM, Mead S, Pittman A, Fratta P.

Brain. 2016 Feb;139(Pt 2):e9. doi: 10.1093/brain/awv223. Epub 2015 Sep 11. No abstract available.

15.

Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis.

Lu CH, Macdonald-Wallis C, Gray E, Pearce N, Petzold A, Norgren N, Giovannoni G, Fratta P, Sidle K, Fish M, Orrell R, Howard R, Talbot K, Greensmith L, Kuhle J, Turner MR, Malaspina A.

Neurology. 2015 Jun 2;84(22):2247-57. doi: 10.1212/WNL.0000000000001642. Epub 2015 May 1. Erratum in: Neurology. 2015 Sep 8;85(10):921.

16.

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.

Rohrer JD, Isaacs AM, Mizielinska S, Mead S, Lashley T, Wray S, Sidle K, Fratta P, Orrell RW, Hardy J, Holton J, Revesz T, Rossor MN, Warren JD.

Lancet Neurol. 2015 Mar;14(3):291-301. doi: 10.1016/S1474-4422(14)70233-9. Epub 2015 Jan 29. Review. Erratum in: Lancet Neurol. 2015 Apr;14(4):350.

PMID:
25638642
17.

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

Morgan S, Shoai M, Fratta P, Sidle K, Orrell R, Sweeney MG, Shatunov A, Sproviero W, Jones A, Al-Chalabi A, Malaspina A, Houlden H, Hardy J, Pittman A.

Neurobiol Aging. 2015 Mar;36(3):1600.e5-8. doi: 10.1016/j.neurobiolaging.2014.12.017. Epub 2014 Dec 20.

PMID:
25588603
18.

β-Catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy.

Banerji CR, Knopp P, Moyle LA, Severini S, Orrell RW, Teschendorff AE, Zammit PS.

J R Soc Interface. 2015 Jan 6;12(102):20140797.

19.

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study.

Al-Chalabi A, Calvo A, Chio A, Colville S, Ellis CM, Hardiman O, Heverin M, Howard RS, Huisman MHB, Keren N, Leigh PN, Mazzini L, Mora G, Orrell RW, Rooney J, Scott KM, Scotton WJ, Seelen M, Shaw CE, Sidle KS, Swingler R, Tsuda M, Veldink JH, Visser AE, van den Berg LH, Pearce N.

Lancet Neurol. 2014 Nov;13(11):1108-1113. doi: 10.1016/S1474-4422(14)70219-4. Epub 2014 Oct 7.

20.

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion.

Fratta P, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, Beck J, Preza E, Devoy A, Sidle K, Howard R, Malaspina A, Orrell RW, Clarke J, Lu CH, Mok K, Collins T, Shoaii M, Nanji T, Wray S, Adamson G, Pittman A, Renton AE, Traynor BJ, Sweeney MG, Revesz T, Houlden H, Mead S, Isaacs AM, Fisher EM.

Neurobiol Aging. 2015 Jan;36(1):546.e1-7. doi: 10.1016/j.neurobiolaging.2014.07.037. Epub 2014 Aug 1.

21.

Plasma neurofilament heavy chain levels and disease progression in amyotrophic lateral sclerosis: insights from a longitudinal study.

Lu CH, Petzold A, Topping J, Allen K, Macdonald-Wallis C, Clarke J, Pearce N, Kuhle J, Giovannoni G, Fratta P, Sidle K, Fish M, Orrell R, Howard R, Greensmith L, Malaspina A.

J Neurol Neurosurg Psychiatry. 2015 May;86(5):565-73. doi: 10.1136/jnnp-2014-307672. Epub 2014 Jul 9.

22.

Safety, pharmacokinetic, and functional effects of the nogo-a monoclonal antibody in amyotrophic lateral sclerosis: a randomized, first-in-human clinical trial.

Meininger V, Pradat PF, Corse A, Al-Sarraj S, Rix Brooks B, Caress JB, Cudkowicz M, Kolb SJ, Lange D, Leigh PN, Meyer T, Milleri S, Morrison KE, Orrell RW, Peters G, Rothstein JD, Shefner J, Lavrov A, Williams N, Overend P, Price J, Bates S, Bullman J, Krull D, Berges A, Abila B, Meno-Tetang G, Wurthner J.

PLoS One. 2014 May 19;9(5):e97803. doi: 10.1371/journal.pone.0097803. eCollection 2014.

23.

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD; ITALSGEN, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ.

Nat Neurosci. 2014 May;17(5):664-666. doi: 10.1038/nn.3688. Epub 2014 Mar 30.

24.

Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.

Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu CH, Hardy J, Plagnol V, Fisher EM.

J Neurol Neurosurg Psychiatry. 2014 May;85(5):506-8. doi: 10.1136/jnnp-2013-306761. Epub 2013 Dec 5.

25.

TRPA1 insensitivity of human sural nerve axons after exposure to lidocaine.

Docherty RJ, Ginsberg L, Jadoon S, Orrell RW, Bhattacharjee A.

Pain. 2013 Sep;154(9):1569-77. doi: 10.1016/j.pain.2013.04.030. Epub 2013 Apr 18.

PMID:
23707266
26.

Management of sialorrhoea in motor neuron disease: a survey of current UK practice.

Hobson EV, McGeachan A, Al-Chalabi A, Chandran S, Crawley F, Dick D, Donaghy C, Ealing J, Ellis CM, Gorrie G, Hanemann CO, Harrower T, Jung A, Majeed T, Malaspina A, Morrison K, Orrell RW, Pall H, Pinto A, Talbot K, Turner MR, Williams TL, Young CA, Shaw PJ, McDermott CJ.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):521-7. doi: 10.3109/21678421.2013.790452. Epub 2013 May 7.

PMID:
23647474
27.

Homozygosity analysis in amyotrophic lateral sclerosis.

Mok K, Laaksovirta H, Tienari PJ, Peuralinna T, Myllykangas L, Chiò A, Traynor BJ, Nalls MA, Gurunlian N, Shatunov A, Restagno G, Mora G, Nigel Leigh P, Shaw CE, Morrison KE, Shaw PJ, Al-Chalabi A, Hardy J, Orrell RW.

Eur J Hum Genet. 2013 Dec;21(12):1429-35. doi: 10.1038/ejhg.2013.59. Epub 2013 Apr 24.

28.

Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels.

Bartolome F, Wu HC, Burchell VS, Preza E, Wray S, Mahoney CJ, Fox NC, Calvo A, Canosa A, Moglia C, Mandrioli J, Chiò A, Orrell RW, Houlden H, Hardy J, Abramov AY, Plun-Favreau H.

Neuron. 2013 Apr 10;78(1):57-64. doi: 10.1016/j.neuron.2013.02.028. Epub 2013 Mar 14.

29.

Lithium in patients with amyotrophic lateral sclerosis (LiCALS): a phase 3 multicentre, randomised, double-blind, placebo-controlled trial.

UKMND-LiCALS Study Group, Morrison KE, Dhariwal S, Hornabrook R, Savage L, Burn DJ, Khoo TK, Kelly J, Murphy CL, Al-Chalabi A, Dougherty A, Leigh PN, Wijesekera L, Thornhill M, Ellis CM, O'Hanlon K, Panicker J, Pate L, Ray P, Wyatt L, Young CA, Copeland L, Ealing J, Hamdalla H, Leroi I, Murphy C, O'Keeffe F, Oughton E, Partington L, Paterson P, Rog D, Sathish A, Sexton D, Smith J, Vanek H, Dodds S, Williams TL, Steen IN, Clarke J, Eziefula C, Howard R, Orrell R, Sidle K, Sylvester R, Barrett W, Merritt C, Talbot K, Turner MR, Whatley C, Williams C, Williams J, Cosby C, Hanemann CO, Iman I, Philips C, Timings L, Crawford SE, Hewamadduma C, Hibberd R, Hollinger H, McDermott C, Mils G, Rafiq M, Shaw PJ, Taylor A, Waines E, Walsh T, Addison-Jones R, Birt J, Hare M, Majid T.

Lancet Neurol. 2013 Apr;12(4):339-45. doi: 10.1016/S1474-4422(13)70037-1. Epub 2013 Feb 27. Erratum in: Lancet Neurol. 2013 Sep;12(9):846.

30.

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S.

Am J Hum Genet. 2013 Mar 7;92(3):345-53. doi: 10.1016/j.ajhg.2013.01.011. Epub 2013 Feb 21.

31.

Diagnosing and managing muscular dystrophy.

Orrell RW.

Practitioner. 2012 Sep;256(1754):21-4, 2-3. Review.

PMID:
23252132
32.

Antioxidants and other pharmacological treatments for Friedreich ataxia.

Kearney M, Orrell RW, Fahey M, Pandolfo M.

Cochrane Database Syst Rev. 2012 Apr 18;(4):CD007791. doi: 10.1002/14651858.CD007791.pub3. Review. Update in: Cochrane Database Syst Rev. 2016;8:CD007791.

PMID:
22513953
33.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.

Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O; Chromosome 9-ALS/FTD Consortium; French research network on FTLD/FTLD/ALS; ITALSGEN Consortium, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ.

Lancet Neurol. 2012 Apr;11(4):323-30. doi: 10.1016/S1474-4422(12)70043-1. Epub 2012 Mar 9.

34.

GPs have key role in managing motor neurone disease.

Orrell RW.

Practitioner. 2011 Sep;255(1743):19-22, 2.

PMID:
22032111
35.

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ.

Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21.

36.

Chromosome 9 ALS and FTD locus is probably derived from a single founder.

Mok K, Traynor BJ, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, Myllykangas L, Chiò A, Shatunov A, Boeve BF, Boxer AL, DeJesus-Hernandez M, Mackenzie IR, Waite A, Williams N, Morris HR, Simón-Sánchez J, van Swieten JC, Heutink P, Restagno G, Mora G, Morrison KE, Shaw PJ, Rollinson PS, Al-Chalabi A, Rademakers R, Pickering-Brown S, Orrell RW, Nalls MA, Hardy J.

Neurobiol Aging. 2012 Jan;33(1):209.e3-8. doi: 10.1016/j.neurobiolaging.2011.08.005. Epub 2011 Sep 16.

37.

Acetylcholine receptor antibodies in patients with genetic myopathies: clinical and biological significance.

Lane RJ, Roncaroli F, Charles P, McGonagle DG, Orrell RW.

Neuromuscul Disord. 2012 Feb;22(2):122-8. doi: 10.1016/j.nmd.2011.06.751. Epub 2011 Aug 26.

PMID:
21872471
38.

Facioscapulohumeral dystrophy and scapuloperoneal syndromes.

Orrell RW.

Handb Clin Neurol. 2011;101:167-80. doi: 10.1016/B978-0-08-045031-5.00013-X. Review.

PMID:
21496633
39.

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.

Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, Vance C, Johnson L, Veldink JH, van Es MA, van den Berg LH, Robberecht W, Van Damme P, Hardiman O, Farmer AE, Lewis CM, Butler AW, Abel O, Andersen PM, Fogh I, Silani V, Chiò A, Traynor BJ, Melki J, Meininger V, Landers JE, McGuffin P, Glass JD, Pall H, Leigh PN, Hardy J, Brown RH Jr, Powell JF, Orrell RW, Morrison KE, Shaw PJ, Shaw CE, Al-Chalabi A.

Lancet Neurol. 2010 Oct;9(10):986-94. doi: 10.1016/S1474-4422(10)70197-6. Erratum in: Lancet Neurol. 2011 Mar;10(3):205.

40.

What is the clinical significance of SOD1 mutations in amyotrophic lateral sclerosis?

Orrell RW.

J Neurol Neurosurg Psychiatry. 2010 May;81(5):473. doi: 10.1136/jnnp.2010.205575. No abstract available.

PMID:
20460587
41.

The association between ALS and population density: A population based study.

Scott KM, Abhinav K, Wijesekera L, Ganesalingam J, Goldstein LH, Janssen A, Dougherty A, Willey E, Stanton BR, Turner MR, Ampong MA, Sakel M, Orrell R, Howard R, Shaw CE, Nigel Leigh P, Al-Chalabi A.

Amyotroph Lateral Scler. 2010 Oct;11(5):435-8. doi: 10.3109/17482961003754552.

42.

The sex ratio in amyotrophic lateral sclerosis: A population based study.

Manjaly ZR, Scott KM, Abhinav K, Wijesekera L, Ganesalingam J, Goldstein LH, Janssen A, Dougherty A, Willey E, Stanton BR, Turner MR, Ampong MA, Sakel M, Orrell RW, Howard R, Shaw CE, Leigh PN, Al-Chalabi A.

Amyotroph Lateral Scler. 2010 Oct;11(5):439-42. doi: 10.3109/17482961003610853.

43.

Scapular fixation in muscular dystrophy.

Orrell RW, Copeland S, Rose MR.

Cochrane Database Syst Rev. 2010 Jan 20;(1):CD003278. doi: 10.1002/14651858.CD003278.pub2. Review.

PMID:
20091543
44.

Motor neuron disease: systematic reviews of treatment for ALS and SMA.

Orrell RW.

Br Med Bull. 2010;93:145-59. doi: 10.1093/bmb/ldp049. Epub 2009 Dec 15. Review.

PMID:
20015852
45.

Antioxidants and other pharmacological treatments for Friedreich ataxia.

Kearney M, Orrell RW, Fahey M, Pandolfo M.

Cochrane Database Syst Rev. 2009 Oct 7;(4):CD007791. doi: 10.1002/14651858.CD007791.pub2. Review. Update in: Cochrane Database Syst Rev. 2012;4:CD007791.

PMID:
19821439
46.

Investigation of MGF mRNA expression in patients with amyotrophic lateral sclerosis using parallel in vivo and in vitro approaches.

Evans RM, Harridge SD, Velloso CP, Yang SY, Goldspink G, Orrell RW.

Amyotroph Lateral Scler. 2010;11(1-2):172-7. doi: 10.3109/17482960903089775.

PMID:
19572220
47.

Increased sensitivity of myoblasts to oxidative stress in amyotrophic lateral sclerosis peripheral tissues.

Bradley LJ, Taanman JW, Kallis C, Orrell RW.

Exp Neurol. 2009 Jul;218(1):92-7. doi: 10.1016/j.expneurol.2009.04.007. Epub 2009 Apr 18.

PMID:
19379740
48.

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.

Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ.

Hum Mol Genet. 2009 Apr 15;18(8):1524-32. doi: 10.1093/hmg/ddp059. Epub 2009 Feb 4.

49.

Geographical clustering of amyotrophic lateral sclerosis in South-East England: a population study.

Scott KM, Abhinav K, Stanton BR, Johnston C, Turner MR, Ampong MA, Sakel M, Orrell RW, Howard R, Shaw CE, Leigh PN, Al-Chalabi A.

Neuroepidemiology. 2009;32(2):81-8. doi: 10.1159/000177032. Epub 2008 Nov 27.

PMID:
19039239
50.

Mechano-growth factor, an IGF-I splice variant, rescues motoneurons and improves muscle function in SOD1(G93A) mice.

Riddoch-Contreras J, Yang SY, Dick JR, Goldspink G, Orrell RW, Greensmith L.

Exp Neurol. 2009 Feb;215(2):281-9. doi: 10.1016/j.expneurol.2008.10.014. Epub 2008 Nov 7.

PMID:
19038252

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