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Results: 1 to 20 of 46

Cited In for PubMed (Select 20801717)

1.

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.

Cooper-Knock J, Kirby J, Highley R, Shaw PJ.

Neurotherapeutics. 2015 Apr;12(2):326-39. doi: 10.1007/s13311-015-0342-1.

2.

Genome-wide association studies in neurology.

Tan MS, Jiang T, Tan L, Yu JT.

Ann Transl Med. 2014 Dec;2(12):124. doi: 10.3978/j.issn.2305-5839.2014.11.12. Review.

3.

ALS as a distal axonopathy: molecular mechanisms affecting neuromuscular junction stability in the presymptomatic stages of the disease.

Moloney EB, de Winter F, Verhaagen J.

Front Neurosci. 2014 Aug 14;8:252. doi: 10.3389/fnins.2014.00252. eCollection 2014. Review.

4.

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.

Diekstra FP, Van Deerlin VM, van Swieten JC, Al-Chalabi A, Ludolph AC, Weishaupt JH, Hardiman O, Landers JE, Brown RH Jr, van Es MA, Pasterkamp RJ, Koppers M, Andersen PM, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, van Damme P, Melki J, Meininger V, Shatunov A, Shaw CE, Leigh PN, Shaw PJ, Morrison KE, Fogh I, Chiò A, Traynor BJ, Czell D, Weber M, Heutink P, de Bakker PI, Silani V, Robberecht W, van den Berg LH, Veldink JH.

Ann Neurol. 2014 Jul;76(1):120-33. doi: 10.1002/ana.24198. Epub 2014 Jun 27.

PMID:
24931836
5.

Worming forward: amyotrophic lateral sclerosis toxicity mechanisms and genetic interactions in Caenorhabditis elegans.

Therrien M, Parker JA.

Front Genet. 2014 Apr 17;5:85. doi: 10.3389/fgene.2014.00085. eCollection 2014. Review.

6.

A plural role for lipids in motor neuron diseases: energy, signaling and structure.

Schmitt F, Hussain G, Dupuis L, Loeffler JP, Henriques A.

Front Cell Neurosci. 2014 Feb 20;8:25. doi: 10.3389/fncel.2014.00025. eCollection 2014. Review.

7.

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.

Cooper-Knock J, Shaw PJ, Kirby J.

Acta Neuropathol. 2014 Mar;127(3):333-45. doi: 10.1007/s00401-014-1251-9. Epub 2014 Feb 4. Review.

8.

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic.

Lee YB, Chen HJ, Peres JN, Gomez-Deza J, Attig J, Stalekar M, Troakes C, Nishimura AL, Scotter EL, Vance C, Adachi Y, Sardone V, Miller JW, Smith BN, Gallo JM, Ule J, Hirth F, Rogelj B, Houart C, Shaw CE.

Cell Rep. 2013 Dec 12;5(5):1178-86. doi: 10.1016/j.celrep.2013.10.049. Epub 2013 Nov 27.

9.

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Sorarù G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Saccà F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chiò A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD, Overste D, Diekstra FP, Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers JE, Ticozzi N, Ceroni M, Pegoraro E, Comi GP, D'Alfonso S, van den Berg LH, Taroni F, Al-Chalabi A, Powell J, Silani V; SLAGEN Consortium and Collaborators.

Hum Mol Genet. 2014 Apr 15;23(8):2220-31. doi: 10.1093/hmg/ddt587. Epub 2013 Nov 20.

10.

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

Mann DM, Rollinson S, Robinson A, Bennion Callister J, Thompson JC, Snowden JS, Gendron T, Petrucelli L, Masuda-Suzukake M, Hasegawa M, Davidson Y, Pickering-Brown S.

Acta Neuropathol Commun. 2013 Oct 14;1(1):68. doi: 10.1186/2051-5960-1-68.

11.

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.

Goris A, van Setten J, Diekstra F, Ripke S, Patsopoulos NA, Sawcer SJ; International Multiple Sclerosis Genetics Consortium, van Es M; Australia and New Zealand MS Genetics Consortium, Andersen PM, Melki J, Meininger V, Hardiman O, Landers JE, Brown RH Jr, Shatunov A, Leigh N, Al-Chalabi A, Shaw CE, Traynor BJ, Chiò A, Restagno G, Mora G, Ophoff RA, Oksenberg JR, Van Damme P, Compston A, Robberecht W, Dubois B, van den Berg LH, De Jager PL, Veldink JH, de Bakker PI.

Hum Mol Genet. 2014 Apr 1;23(7):1916-22. doi: 10.1093/hmg/ddt574. Epub 2013 Nov 13.

12.

Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis.

Ling SC, Polymenidou M, Cleveland DW.

Neuron. 2013 Aug 7;79(3):416-38. doi: 10.1016/j.neuron.2013.07.033. Review.

13.

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.

14.

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat.

Jones AR, Woollacott I, Shatunov A, Cooper-Knock J, Buchman V, Sproviero W, Smith B, Scott KM, Balendra R, Abel O, McGuffin P, Ellis CM, Shaw PJ, Morrison KE, Farmer A, Lewis CM, Leigh PN, Shaw CE, Powell JF, Al-Chalabi A.

Neurobiol Aging. 2013 Sep;34(9):2234.e1-7. doi: 10.1016/j.neurobiolaging.2013.03.003. Epub 2013 Apr 12.

15.

Next-generation sequencing in understanding complex neurological disease.

Handel AE, Disanto G, Ramagopalan SV.

Expert Rev Neurother. 2013 Feb;13(2):215-27. doi: 10.1586/ern.12.165. Review.

16.

Identification of pharmacological targets in amyotrophic lateral sclerosis through genomic analysis of deregulated genes and pathways.

Paratore S, Pezzino S, Cavallaro S.

Curr Genomics. 2012 Jun;13(4):321-33. doi: 10.2174/138920212800793366.

17.

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.

van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, Philtjens S, Vandenbulcke M, Sleegers K, Sieben A, Bäumer V, Maes G, Corsmit E, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, de Mendonça A, Miltenberger-Miltenyi G, Pereira S, Pimentel J, Nacmias B, Bagnoli S, Sorbi S, Graff C, Chiang HH, Westerlund M, Sanchez-Valle R, Llado A, Gelpi E, Santana I, Almeida MR, Santiago B, Frisoni G, Zanetti O, Bonvicini C, Synofzik M, Maetzler W, Vom Hagen JM, Schöls L, Heneka MT, Jessen F, Matej R, Parobkova E, Kovacs GG, Ströbel T, Sarafov S, Tournev I, Jordanova A, Danek A, Arzberger T, Fabrizi GM, Testi S, Salmon E, Santens P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Philtjens S, Sleegers K, Bäumer V, Maes G, Corsmit E, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Philtjens S, Theuns J, Sleegers K, Bäumer V, Maes G, Cruts M, Van Broeckhoven C, Engelborghs S, De Deyn PP, Cras P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenbulcke M, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, Synofzik M, Maetzler W, Müller Vom Hagen J, Schöls L, Synofzik M, Maetzler W, Müller Vom Hagen J, Schöls L, Heneka MT, Jessen F, Ramirez A, Kurzwelly D, Sachtleben C, Mairer W, de Mendonça A, Miltenberger-Miltenyi G, Pereira S, Firmo C, Pimentel J, Sanchez-Valle R, Llado A, Antonell A, Molinuevo J, Gelpi E, Graff C, Chiang HH, Westerlund M, Graff C, Kinhult Ståhlbom A, Thonberg H, Nennesmo I, Börjesson-Hanson A, Nacmias B, Bagnoli S, Sorbi S, Bessi V, Piaceri I, Santana I, Santiago B, Santana I, Helena Ribeiro M, Rosário Almeida M, Oliveira C, Massano J, Garret C, Pires P, Frisoni G, Zanetti O, Bonvicini C, Sarafov S, Tournev I, Jordanova A, Tournev I, Kovacs GG, Ströbel T, Heneka MT, Jessen F, Ramirez A, Kurzwelly D, Sachtleben C, Mairer W, Jessen F, Matej R, Parobkova E, Danel A, Arzberger T, Maria Fabrizi G, Testi S, Ferrari S, Cavallaro T, Salmon E, Santens P, Cras P; European Early-Onset Dementia Consortium.

Hum Mutat. 2013 Feb;34(2):363-73. doi: 10.1002/humu.22244. Epub 2013 Jan 4.

18.

Investigation of c9orf72 in 4 neurodegenerative disorders.

Xi Z, Zinman L, Grinberg Y, Moreno D, Sato C, Bilbao JM, Ghani M, Hernández I, Ruiz A, Boada M, Morón FJ, Lang AE, Marras C, Bruni A, Colao R, Maletta RG, Puccio G, Rainero I, Pinessi L, Galimberti D, Morrison KE, Moorby C, Stockton JD, Masellis M, Black SE, Hazrati LN, Liang Y, van Haersma de With J, Fornazzari L, Villagra R, Rojas-Garcia R, Clarimón J, Mayeux R, Robertson J, St George-Hyslop P, Rogaeva E.

Arch Neurol. 2012 Dec;69(12):1583-90. doi: 10.1001/archneurol.2012.2016.

19.

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Ahmeti KB, Ajroud-Driss S, Al-Chalabi A, Andersen PM, Armstrong J, Birve A, Blauw HM, Brown RH, Bruijn L, Chen W, Chio A, Comeau MC, Cronin S, Diekstra FP, Soraya Gkazi A, Glass JD, Grab JD, Groen EJ, Haines JL, Hardiman O, Heller S, Huang J, Hung WY; ITALSGEN consortium, Jaworski JM, Jones A, Khan H, Landers JE, Langefeld CD, Leigh PN, Marion MC, McLaughlin RL, Meininger V, Melki J, Miller JW, Mora G, Pericak-Vance MA, Rampersaud E, Robberecht W, Russell LP, Salachas F, Saris CG, Shatunov A, Shaw CE, Siddique N, Siddique T, Smith BN, Sufit R, Topp S, Traynor BJ, Vance C, van Damme P, van den Berg LH, van Es MA, van Vught PW, Veldink JH, Yang Y, Zheng JG; ALSGEN Consortium.

Neurobiol Aging. 2013 Jan;34(1):357.e7-19. doi: 10.1016/j.neurobiolaging.2012.07.017. Epub 2012 Sep 5.

20.

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study.

Chiò A, Mora G, Restagno G, Brunetti M, Ossola I, Barberis M, Ferrucci L, Canosa A, Manera U, Moglia C, Fuda G, Traynor BJ, Calvo A.

Neurobiol Aging. 2013 Jan;34(1):357.e1-5. doi: 10.1016/j.neurobiolaging.2012.07.016. Epub 2012 Aug 22.

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