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Items: 1 to 20 of 90

1.

Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion.

Pliner HA, Mann DM, Traynor BJ.

Acta Neuropathol. 2014 Mar;127(3):391-6. doi: 10.1007/s00401-014-1250-x. Epub 2014 Feb 5.

2.

C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population.

Abramycheva NY, Lysogorskaia EV, Stepanova MS, Zakharova MN, Kovrazhkina EA, Razinskaya OD, Smirnov AP, Maltsev AV, Ustyugov AA, Kukharsky MS, Khritankova IV, Bachurin SO, Cooper-Knock J, Buchman VL, Illarioshkin SN, Skvortsova VI, Ninkina N.

Neurobiol Aging. 2015 Oct;36(10):2908.e5-9. doi: 10.1016/j.neurobiolaging.2015.07.004. Epub 2015 Jul 9.

PMID:
26254955
3.

[C9orf72 in Japanese amyotrophic lateral sclerosis (ALS)].

Tomiyama H.

Rinsho Shinkeigaku. 2013;53(11):1074-6. Japanese.

PMID:
24291883
4.

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.

5.

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.

6.

Analysis of C9orf72 repeat expansion in amyotrophic lateral sclerosis patients from North India.

Vats A, Gourie-Devi M, Suroliya V, Verma S, Faruq M, Sharma A, Ganguly NK, Kukreti R, Wajid S, Taneja V.

J Neurol Sci. 2017 Feb 15;373:55-57. doi: 10.1016/j.jns.2016.11.079. Epub 2016 Dec 5.

PMID:
28131227
7.

Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis.

Ogaki K, Li Y, Atsuta N, Tomiyama H, Funayama M, Watanabe H, Nakamura R, Yoshino H, Yato S, Tamura A, Naito Y, Taniguchi A, Fujita K, Izumi Y, Kaji R, Hattori N, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS).

Neurobiol Aging. 2012 Oct;33(10):2527.e11-6. doi: 10.1016/j.neurobiolaging.2012.05.011. Epub 2012 Jun 21.

PMID:
22727276
8.

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.

9.

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study.

Byrne S, Elamin M, Bede P, Shatunov A, Walsh C, Corr B, Heverin M, Jordan N, Kenna K, Lynch C, McLaughlin RL, Iyer PM, O'Brien C, Phukan J, Wynne B, Bokde AL, Bradley DG, Pender N, Al-Chalabi A, Hardiman O.

Lancet Neurol. 2012 Mar;11(3):232-40. doi: 10.1016/S1474-4422(12)70014-5. Epub 2012 Feb 3. Erratum in: Lancet Neurol. 2012 May;11(5):388.

10.

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.e13-192.e15. doi: 10.1016/j.neurobiolaging.2016.02.001. Epub 2016 Feb 6.

PMID:
26925510
11.

Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis.

Jang JH, Kwon MJ, Choi WJ, Oh KW, Koh SH, Ki CS, Kim SH.

Neurobiol Aging. 2013 Apr;34(4):1311.e7-9. doi: 10.1016/j.neurobiolaging.2012.09.004. Epub 2012 Oct 22.

PMID:
23088937
12.

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
13.

ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.

Siuda J, Lewicka T, Bujak M, Opala G, Golenia A, Slowik A, van Blitterswijk M, Baker M, Ertekin-Taner N, Wszolek ZK, Rademakers R.

Eur Neurol. 2014;72(1-2):64-71. doi: 10.1159/000362267. Epub 2014 May 24.

14.

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, Baxter L, Forster G, Fox M, Bury J, Mok K, McDermott CJ, Traynor BJ, Kirby J, Wharton SB, Ince PG, Hardy J, Shaw PJ.

Brain. 2012 Mar;135(Pt 3):751-64. doi: 10.1093/brain/awr365.

15.

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
16.

C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.

He J, Tang L, Benyamin B, Shah S, Hemani G, Liu R, Ye S, Liu X, Ma Y, Zhang H, Cremin K, Leo P, Wray NR, Visscher PM, Xu H, Brown MA, Bartlett PF, Mangelsdorf M, Fan D.

Neurobiol Aging. 2015 Sep;36(9):2660.e1-8. doi: 10.1016/j.neurobiolaging.2015.06.002. Epub 2015 Jun 9.

PMID:
26142124
17.

Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients.

Alavi A, Nafissi S, Rohani M, Shahidi G, Zamani B, Shamshiri H, Safari I, Elahi E.

Neurobiol Aging. 2014 Jan;35(1):267.e1-7. doi: 10.1016/j.neurobiolaging.2013.07.016. Epub 2013 Aug 17.

PMID:
23962495
18.

Genetic architecture of ALS in Sardinia.

Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Pliner HA, Renton AE, Nalls MA, Traynor BJ, Restagno G, Chiò A; ITALSGEN and SARDINALS Consortia.

Neurobiol Aging. 2014 Dec;35(12):2882.e7-2882.e12. doi: 10.1016/j.neurobiolaging.2014.07.012. Epub 2014 Jul 18.

19.

The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis.

Farg MA, Konopka A, Soo KY, Ito D, Atkin JD.

Hum Mol Genet. 2017 Aug 1;26(15):2882-2896. doi: 10.1093/hmg/ddx170.

PMID:
28481984
20.

There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS.

Gitler AD, Tsuiji H.

Brain Res. 2016 Sep 15;1647:19-29. doi: 10.1016/j.brainres.2016.04.004. Epub 2016 Apr 6. Review.

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