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Items: 1 to 20 of 161

1.

C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository.

Rutherford NJ, DeJesus-Hernandez M, Baker MC, Kryston TB, Brown PE, Lomen-Hoerth C, Boylan K, Wszolek ZK, Rademakers R.

Neurology. 2012 Jul 31;79(5):482-3. doi: 10.1212/WNL.0b013e31826170f1. Epub 2012 Jul 18. No abstract available.

2.

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P, van Swieten JC.

Brain. 2012 Mar;135(Pt 3):723-35. doi: 10.1093/brain/awr353. Epub 2012 Feb 1.

PMID:
22300876
3.

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
4.

Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

Goldman JS, Quinzii C, Dunning-Broadbent J, Waters C, Mitsumoto H, Brannagan TH 3rd, Cosentino S, Huey ED, Nagy P, Kuo SH.

JAMA Neurol. 2014 Jun;71(6):771-4. doi: 10.1001/jamaneurol.2013.5762.

5.

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.

6.

Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive-compulsive disorder associated to GGGGCC expansion of the c9orf72 gene.

Calvo A, Moglia C, Canosa A, Cistaro A, Valentini C, Carrara G, Soldano E, Ilardi A, Bersano E, Bertuzzo D, Brunetti M, Ossola I, Restagno G, Chiò A.

J Neurol. 2012 Dec;259(12):2723-5. doi: 10.1007/s00415-012-6640-1. Epub 2012 Aug 24. No abstract available.

PMID:
22918453
7.

Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients.

Zou ZY, Li XG, Liu MS, Cui LY.

Neurobiol Aging. 2013 Jun;34(6):1710.e5-6. doi: 10.1016/j.neurobiolaging.2012.11.018. Epub 2012 Dec 20.

PMID:
23261768
8.

Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina.

Itzcovich T, Xi Z, Martinetto H, Chrem-Méndez P, Russo MJ, de Ambrosi B, Uchitel OD, Nogués M, Silva E, Rojas G, Bagnatti P, Amengual A, Campos J, Rogaeva E, St George-Hyslop P, Allegri R, Sevlever G, Surace EI.

Neurobiol Aging. 2016 Apr;40:192.e13-5. doi: 10.1016/j.neurobiolaging.2016.02.001. Epub 2016 Feb 6.

PMID:
26925510
9.

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
10.

Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis.

Byrne S, Heverin M, Elamin M, Walsh C, Hardiman O.

Amyotroph Lateral Scler Frontotemporal Degener. 2014 Mar;15(1-2):148-50. doi: 10.3109/21678421.2013.838586. Epub 2013 Sep 23.

PMID:
24053774
11.

C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population.

Koutsis G, Karadima G, Kartanou C, Kladi A, Panas M.

Neurobiol Aging. 2015 Jan;36(1):547.e13-6. doi: 10.1016/j.neurobiolaging.2014.08.020. Epub 2014 Aug 27.

PMID:
25248608
12.

C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.

Liu EY, Russ J, Wu K, Neal D, Suh E, McNally AG, Irwin DJ, Van Deerlin VM, Lee EB.

Acta Neuropathol. 2014 Oct;128(4):525-41. doi: 10.1007/s00401-014-1286-y. Epub 2014 May 8.

13.

C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.

Daoud H, Suhail H, Sabbagh M, Belzil V, Szuto A, Dionne-Laporte A, Khoris J, Camu W, Salachas F, Meininger V, Mathieu J, Strong M, Dion PA, Rouleau GA.

Arch Neurol. 2012 Sep;69(9):1159-63. doi: 10.1001/archneurol.2012.377.

PMID:
22964911
14.

Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72.

Snowden JS, Harris J, Richardson A, Rollinson S, Thompson JC, Neary D, Mann DM, Pickering-Brown S.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Apr;14(3):172-6. doi: 10.3109/21678421.2013.765485. Epub 2013 Feb 19.

PMID:
23421625
15.

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.

16.

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Chiò A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, Sendtner M, Brunetti M, Ossola I, Calvo A, Pugliatti M, Sotgiu MA, Murru MR, Marrosu MG, Marrosu F, Marinou K, Mandrioli J, Sola P, Caponnetto C, Mancardi G, Mandich P, La Bella V, Spataro R, Conte A, Monsurrò MR, Tedeschi G, Pisano F, Bartolomei I, Salvi F, Lauria Pinter G, Simone I, Logroscino G, Gambardella A, Quattrone A, Lunetta C, Volanti P, Zollino M, Penco S, Battistini S; ITALSGEN consortium, Renton AE, Majounie E, Abramzon Y, Conforti FL, Giannini F, Corbo M, Sabatelli M.

Brain. 2012 Mar;135(Pt 3):784-93. doi: 10.1093/brain/awr366.

17.

Large C9orf72 repeat expansions are not a common cause of Parkinson's disease.

Majounie E, Abramzon Y, Renton AE, Keller MF, Traynor BJ, Singleton AB.

Neurobiol Aging. 2012 Oct;33(10):2527.e1-2. doi: 10.1016/j.neurobiolaging.2012.05.007. Epub 2012 Jun 20.

18.

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
19.

A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan.

Tsai CP, Soong BW, Tu PH, Lin KP, Fuh JL, Tsai PC, Lu YC, Lee IH, Lee YC.

Neurobiol Aging. 2012 Sep;33(9):2232.e11-2232.e18. doi: 10.1016/j.neurobiolaging.2012.05.002. Epub 2012 Jun 5.

PMID:
22673113
20.

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.

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