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Items: 1 to 20 of 213

1.

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.

van Blitterswijk M, Mullen B, Heckman MG, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R.

Neurobiol Aging. 2014 Oct;35(10):2421.e13-7. doi: 10.1016/j.neurobiolaging.2014.04.016. Epub 2014 May 2.

2.

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.

van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R.

Acta Neuropathol. 2014 Mar;127(3):397-406. doi: 10.1007/s00401-013-1240-4. Epub 2014 Jan 3.

3.

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study.

van Blitterswijk M, DeJesus-Hernandez M, Niemantsverdriet E, Murray ME, Heckman MG, Diehl NN, Brown PH, Baker MC, Finch NA, Bauer PO, Serrano G, Beach TG, Josephs KA, Knopman DS, Petersen RC, Boeve BF, Graff-Radford NR, Boylan KB, Petrucelli L, Dickson DW, Rademakers R.

Lancet Neurol. 2013 Oct;12(10):978-88. doi: 10.1016/S1474-4422(13)70210-2. Epub 2013 Sep 5.

4.

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

Lattante S, Millecamps S, Stevanin G, Rivaud-Péchoux S, Moigneu C, Camuzat A, Da Barroca S, Mundwiller E, Couarch P, Salachas F, Hannequin D, Meininger V, Pasquier F, Seilhean D, Couratier P, Danel-Brunaud V, Bonnet AM, Tranchant C, LeGuern E, Brice A, Le Ber I, Kabashi E; French Research Network on FTD and FTD-ALS.

Neurology. 2014 Sep 9;83(11):990-5. doi: 10.1212/WNL.0000000000000778. Epub 2014 Aug 6.

5.

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.

Gendron TF, van Blitterswijk M, Bieniek KF, Daughrity LM, Jiang J, Rush BK, Pedraza O, Lucas JA, Murray ME, Desaro P, Robertson A, Overstreet K, Thomas CS, Crook JE, Castanedes-Casey M, Rousseau L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Graff-Radford NR, Rademakers R, Lagier-Tourenne C, Edbauer D, Cleveland DW, Dickson DW, Petrucelli L, Boylan KB.

Acta Neuropathol. 2015 Oct;130(4):559-73. doi: 10.1007/s00401-015-1474-4. Epub 2015 Sep 8.

6.

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.

van Blitterswijk M, Mullen B, Wojtas A, Heckman MG, Diehl NN, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R.

Mol Neurodegener. 2014 Sep 20;9:38. doi: 10.1186/1750-1326-9-38.

7.

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

van Blitterswijk M, Gendron TF, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Daughrity LM, Murray ME, Heckman MG, Jiang J, Lagier-Tourenne C, Edbauer D, Cleveland DW, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Petrucelli L, Boeve BF, Graff-Radford NR, Boylan KB, Dickson DW, Rademakers R.

Acta Neuropathol. 2015 Dec;130(6):863-76. doi: 10.1007/s00401-015-1480-6. Epub 2015 Oct 5.

8.

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.

Mackenzie IR, Frick P, Grässer FA, Gendron TF, Petrucelli L, Cashman NR, Edbauer D, Kremmer E, Prudlo J, Troost D, Neumann M.

Acta Neuropathol. 2015 Dec;130(6):845-61. doi: 10.1007/s00401-015-1476-2. Epub 2015 Sep 15.

PMID:
26374446
9.

C9orf72 hexanucleotide repeat expansions and Ataxin 2 intermediate length repeat expansions in Indian patients with amyotrophic lateral sclerosis.

Narain P, Gomes J, Bhatia R, Singh I, Vivekanandan P.

Neurobiol Aging. 2017 Aug;56:211.e9-211.e14. doi: 10.1016/j.neurobiolaging.2017.04.011. Epub 2017 Apr 26.

PMID:
28527524
10.

Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers.

Lee SE, Sias AC, Mandelli ML, Brown JA, Brown AB, Khazenzon AM, Vidovszky AA, Zanto TP, Karydas AM, Pribadi M, Dokuru D, Coppola G, Geschwind DH, Rademakers R, Gorno-Tempini ML, Rosen HJ, Miller BL, Seeley WW.

Neuroimage Clin. 2016 Dec 10;14:286-297. doi: 10.1016/j.nicl.2016.12.006. eCollection 2017.

11.

Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China.

Jiao B, Tang B, Liu X, Yan X, Zhou L, Yang Y, Wang J, Xia K, Shen L.

Neurobiol Aging. 2014 Apr;35(4):936.e19-22. doi: 10.1016/j.neurobiolaging.2013.10.001. Epub 2013 Oct 5.

PMID:
24269022
12.

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.

Lindquist SG, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S, Svenstrup K, Pinborg LH, Vestergaard K, Hjermind LE, Stokholm J, Andersen BB, Johannsen P, Nielsen JE.

Clin Genet. 2013 Mar;83(3):279-83. doi: 10.1111/j.1399-0004.2012.01903.x. Epub 2012 Jul 4.

PMID:
22650353
13.

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.

Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW.

Acta Neuropathol. 2011 Dec;122(6):673-90. doi: 10.1007/s00401-011-0907-y. Epub 2011 Nov 15.

14.

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72.

Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, Vemuri P, Jones D, Lowe V, Murray ME, Dickson DW, Josephs KA, Rush BK, Machulda MM, Fields JA, Ferman TJ, Baker M, Rutherford NJ, Adamson J, Wszolek ZK, Adeli A, Savica R, Boot B, Kuntz KM, Gavrilova R, Reeves A, Whitwell J, Kantarci K, Jack CR Jr, Parisi JE, Lucas JA, Petersen RC, Rademakers R.

Brain. 2012 Mar;135(Pt 3):765-83. doi: 10.1093/brain/aws004.

15.

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

Davidson YS, Barker H, Robinson AC, Thompson JC, Harris J, Troakes C, Smith B, Al-Saraj S, Shaw C, Rollinson S, Masuda-Suzukake M, Hasegawa M, Pickering-Brown S, Snowden JS, Mann DM.

Acta Neuropathol Commun. 2014 Jun 20;2:70. doi: 10.1186/2051-5960-2-70.

16.

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.

Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor BJ, Johnson JO, Nalls MA, Calvo A, Moglia C, Borghero G, Trojsi F, La Bella V, Volanti P, Simone I, Salvi F, Logullo FO, Riva N, Carrera P, Giannini F, Mandrioli J, Tanel R, Capasso M, Tremolizzo L, Battistini S, Murru MR, Origone P, Zollino M, Penco S; ITALSGEN consortium; SARDINIALS consortium, Mazzini L, D'Alfonso S, Restagno G, Brunetti M, Barberis M, Conforti FL.

Neurobiol Aging. 2016 Mar;39:218.e5-8. doi: 10.1016/j.neurobiolaging.2015.11.027. Epub 2015 Dec 8.

17.

Screening for C9orf72 Expansion Mutation in Serbian Patients with Early-Onset Dementia.

Mandic-Stojmenovic G, Stefanova E, Dobricic V, Novakovic I, Stojkovic T, Jesic A, Kostic V.

Dement Geriatr Cogn Disord. 2015;40(5-6):358-65. doi: 10.1159/000438748. Epub 2015 Sep 25.

PMID:
26401819
18.

Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion.

Pletnikova O, Sloane KL, Renton AE, Traynor BJ, Crain BJ, Reid T, Zu T, Ranum LP, Troncoso JC, Rabins PV, Onyike CU.

Neurobiol Aging. 2014 Oct;35(10):2419.e17-21. doi: 10.1016/j.neurobiolaging.2014.04.009. Epub 2014 Apr 18.

19.

C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.

Zhang M, Xi Z, Misquitta K, Sato C, Moreno D, Liang Y, Slow E, Rogaeva E, Tartaglia MC.

Mov Disord. 2017 Jan;32(1):158-162. doi: 10.1002/mds.26841. Epub 2016 Nov 7.

PMID:
28124431
20.

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.

Rutherford NJ, Heckman MG, Dejesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, Stewart H, Finger E, Volkening K, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Knopman DS, Kretzschmar HA, Neumann M, Caselli RJ, White CL 3rd, Mackenzie IR, Petersen RC, Strong MJ, Miller BL, Boeve BF, Uitti RJ, Boylan KB, Wszolek ZK, Graff-Radford NR, Dickson DW, Ross OA, Rademakers R.

Neurobiol Aging. 2012 Dec;33(12):2950.e5-7. doi: 10.1016/j.neurobiolaging.2012.07.005. Epub 2012 Jul 26.

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