Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 146

1.

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.

2.

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R.

Neuron. 2011 Oct 20;72(2):245-56. doi: 10.1016/j.neuron.2011.09.011. Epub 2011 Sep 21.

3.

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.

4.

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
5.

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
6.

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

Tomiyama H.

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

PMID:
24291883
7.

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.

Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai SL, Myllykangas L, Sulkava R, Jansson L, Hernandez DG, Gibbs JR, Nalls MA, Heckerman D, Tienari PJ, Traynor BJ.

Lancet Neurol. 2010 Oct;9(10):978-85. doi: 10.1016/S1474-4422(10)70184-8.

8.

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.

Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, Engelborghs S, Sieben A, De Jonghe P, Vandenberghe R, Santens P, De Bleecker J, Maes G, Bäumer V, Dillen L, Joris G, Cuijt I, Corsmit E, Elinck E, Van Dongen J, Vermeulen S, Van den Broeck M, Vaerenberg C, Mattheijssens M, Peeters K, Robberecht W, Cras P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C.

Lancet Neurol. 2012 Jan;11(1):54-65. doi: 10.1016/S1474-4422(11)70261-7. Epub 2011 Dec 7. Erratum in: Lancet Neurol. 2012 Feb;11(2):125.

PMID:
22154785
9.

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.

Dobson-Stone C, Hallupp M, Bartley L, Shepherd CE, Halliday GM, Schofield PR, Hodges JR, Kwok JB.

Neurology. 2012 Sep 4;79(10):995-1001. doi: 10.1212/WNL.0b013e3182684634. Epub 2012 Aug 8.

10.

Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.

Konno T, Shiga A, Tsujino A, Sugai A, Kato T, Kanai K, Yokoseki A, Eguchi H, Kuwabara S, Nishizawa M, Takahashi H, Onodera O.

J Neurol Neurosurg Psychiatry. 2013 Apr;84(4):398-401. doi: 10.1136/jnnp-2012-302272. Epub 2012 Sep 25.

PMID:
23012445
11.

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.

Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi A, Shaw CE.

Eur J Hum Genet. 2013 Jan;21(1):102-8. doi: 10.1038/ejhg.2012.98. Epub 2012 Jun 13.

12.

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p.

Pearson JP, Williams NM, Majounie E, Waite A, Stott J, Newsway V, Murray A, Hernandez D, Guerreiro R, Singleton AB, Neal J, Morris HR.

J Neurol. 2011 Apr;258(4):647-55. doi: 10.1007/s00415-010-5815-x. Epub 2010 Nov 12.

13.

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.

14.

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.

Hsiung GY, DeJesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, Butler R, Leung B, Fok A, Rutherford NJ, Baker M, Rademakers R, Mackenzie IR.

Brain. 2012 Mar;135(Pt 3):709-22. doi: 10.1093/brain/awr354. Epub 2012 Feb 17.

15.

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.

Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Canosa A, Moglia C, Floris G, Tacconi P, Marrosu F, Marrosu MG, Murru MR, Majounie E, Renton AE, Abramzon Y, Pugliatti M, Sotgiu MA, Traynor BJ, Borghero G; SARDINIALS Consortium.

J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):730-3. doi: 10.1136/jnnp-2012-302219. Epub 2012 May 1.

16.

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.

17.

Tale of two diseases: amyotrophic lateral sclerosis and frontotemporal dementia.

Verma A.

Neurol India. 2014 Jul-Aug;62(4):347-51. doi: 10.4103/0028-3886.141174. Review.

18.

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
19.

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.

20.

No common founder for C9orf72 expansion mutation in Sweden.

Chiang HH, Forsell C, Lindström AK, Lilius L, Thonberg H, Nennesmo I, Graff C.

J Hum Genet. 2017 Feb;62(2):321-324. doi: 10.1038/jhg.2016.108. Epub 2016 Aug 25.

PMID:
27557666

Supplemental Content

Support Center