260 related articles for article (PubMed ID: 23111906)
1. 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;
Hum Mutat; 2013 Feb; 34(2):363-73. PubMed ID: 23111906
[TBL] [Abstract][Full Text] [Related]
2. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
Beck J; Poulter M; Hensman D; Rohrer JD; Mahoney CJ; Adamson G; Campbell T; Uphill J; Borg A; Fratta P; Orrell RW; Malaspina A; Rowe J; Brown J; Hodges J; Sidle K; Polke JM; Houlden H; Schott JM; Fox NC; Rossor MN; Tabrizi SJ; Isaacs AM; Hardy J; Warren JD; Collinge J; Mead S
Am J Hum Genet; 2013 Mar; 92(3):345-53. PubMed ID: 23434116
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 22964832
[TBL] [Abstract][Full Text] [Related]
4. Repeat expansion in C9ORF72 in Alzheimer's disease.
Majounie E; Abramzon Y; Renton AE; Perry R; Bassett SS; Pletnikova O; Troncoso JC; Hardy J; Singleton AB; Traynor BJ
N Engl J Med; 2012 Jan; 366(3):283-4. PubMed ID: 22216764
[No Abstract] [Full Text] [Related]
5. 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. PubMed ID: 25638642
[TBL] [Abstract][Full Text] [Related]
6. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.
Mori K; Weng SM; Arzberger T; May S; Rentzsch K; Kremmer E; Schmid B; Kretzschmar HA; Cruts M; Van Broeckhoven C; Haass C; Edbauer D
Science; 2013 Mar; 339(6125):1335-8. PubMed ID: 23393093
[TBL] [Abstract][Full Text] [Related]
7. The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.
Gijselinck I; Van Mossevelde S; van der Zee J; Sieben A; Engelborghs S; De Bleecker J; Ivanoiu A; Deryck O; Edbauer D; Zhang M; Heeman B; Bäumer V; Van den Broeck M; Mattheijssens M; Peeters K; Rogaeva E; De Jonghe P; Cras P; Martin JJ; de Deyn PP; Cruts M; Van Broeckhoven C
Mol Psychiatry; 2016 Aug; 21(8):1112-24. PubMed ID: 26481318
[TBL] [Abstract][Full Text] [Related]
8. Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia.
Stepto A; Gallo JM; Shaw CE; Hirth F
Acta Neuropathol; 2014 Mar; 127(3):377-89. PubMed ID: 24366528
[TBL] [Abstract][Full Text] [Related]
9. RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention.
Donnelly CJ; Zhang PW; Pham JT; Haeusler AR; Mistry NA; Vidensky S; Daley EL; Poth EM; Hoover B; Fines DM; Maragakis N; Tienari PJ; Petrucelli L; Traynor BJ; Wang J; Rigo F; Bennett CF; Blackshaw S; Sattler R; Rothstein JD
Neuron; 2013 Oct; 80(2):415-28. PubMed ID: 24139042
[TBL] [Abstract][Full Text] [Related]
10. C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.
Koppers M; Blokhuis AM; Westeneng HJ; Terpstra ML; Zundel CA; Vieira de Sá R; Schellevis RD; Waite AJ; Blake DJ; Veldink JH; van den Berg LH; Pasterkamp RJ
Ann Neurol; 2015 Sep; 78(3):426-38. PubMed ID: 26044557
[TBL] [Abstract][Full Text] [Related]
11. The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.
Xi Z; Zhang M; Bruni AC; Maletta RG; Colao R; Fratta P; Polke JM; Sweeney MG; Mudanohwo E; Nacmias B; Sorbi S; Tartaglia MC; Rainero I; Rubino E; Pinessi L; Galimberti D; Surace EI; McGoldrick P; McKeever P; Moreno D; Sato C; Liang Y; Keith J; Zinman L; Robertson J; Rogaeva E
Acta Neuropathol; 2015 May; 129(5):715-27. PubMed ID: 25716178
[TBL] [Abstract][Full Text] [Related]
12. The distinct genetic pattern of ALS in Turkey and novel mutations.
Özoğuz A; Uyan Ö; Birdal G; Iskender C; Kartal E; Lahut S; Ömür Ö; Agim ZS; Eken AG; Sen NE; Kavak P; Saygı C; Sapp PC; Keagle P; Parman Y; Tan E; Koç F; Deymeer F; Oflazer P; Hanağası H; Gürvit H; Bilgiç B; Durmuş H; Ertaş M; Kotan D; Akalın MA; Güllüoğlu H; Zarifoğlu M; Aysal F; Döşoğlu N; Bilguvar K; Günel M; Keskin Ö; Akgün T; Özçelik H; Landers JE; Brown RH; Başak AN
Neurobiol Aging; 2015 Apr; 36(4):1764.e9-1764.e18. PubMed ID: 25681989
[TBL] [Abstract][Full Text] [Related]
13. Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability.
Devlin AC; Burr K; Borooah S; Foster JD; Cleary EM; Geti I; Vallier L; Shaw CE; Chandran S; Miles GB
Nat Commun; 2015 Jan; 6():5999. PubMed ID: 25580746
[TBL] [Abstract][Full Text] [Related]
14. Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity.
Tao Z; Wang H; Xia Q; Li K; Li K; Jiang X; Xu G; Wang G; Ying Z
Hum Mol Genet; 2015 May; 24(9):2426-41. PubMed ID: 25575510
[TBL] [Abstract][Full Text] [Related]
15. Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
van der Zee J; Van Langenhove T; Kovacs GG; Dillen L; Deschamps W; Engelborghs S; Matěj R; Vandenbulcke M; Sieben A; Dermaut B; Smets K; Van Damme P; Merlin C; Laureys A; Van Den Broeck M; Mattheijssens M; Peeters K; Benussi L; Binetti G; Ghidoni R; Borroni B; Padovani A; Archetti S; Pastor P; Razquin C; Ortega-Cubero S; Hernández I; Boada M; Ruiz A; de Mendonça A; Miltenberger-Miltényi G; do Couto FS; Sorbi S; Nacmias B; Bagnoli S; Graff C; Chiang HH; Thonberg H; Perneczky R; Diehl-Schmid J; Alexopoulos P; Frisoni GB; Bonvicini C; Synofzik M; Maetzler W; vom Hagen JM; Schöls L; Haack TB; Strom TM; Prokisch H; Dols-Icardo O; Clarimón J; Lleó A; Santana I; Almeida MR; Santiago B; Heneka MT; Jessen F; Ramirez A; Sanchez-Valle R; Llado A; Gelpi E; Sarafov S; Tournev I; Jordanova A; Parobkova E; Fabrizi GM; Testi S; Salmon E; Ströbel T; Santens P; Robberecht W; De Jonghe P; Martin JJ; Cras P; Vandenberghe R; De Deyn PP; Cruts M; Sleegers K; Van Broeckhoven C
Acta Neuropathol; 2014 Sep; 128(3):397-410. PubMed ID: 24899140
[TBL] [Abstract][Full Text] [Related]
16. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.
Mizielinska S; Grönke S; Niccoli T; Ridler CE; Clayton EL; Devoy A; Moens T; Norona FE; Woollacott IOC; Pietrzyk J; Cleverley K; Nicoll AJ; Pickering-Brown S; Dols J; Cabecinha M; Hendrich O; Fratta P; Fisher EMC; Partridge L; Isaacs AM
Science; 2014 Sep; 345(6201):1192-1194. PubMed ID: 25103406
[TBL] [Abstract][Full Text] [Related]
17. Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits.
Chew J; Gendron TF; Prudencio M; Sasaguri H; Zhang YJ; Castanedes-Casey M; Lee CW; Jansen-West K; Kurti A; Murray ME; Bieniek KF; Bauer PO; Whitelaw EC; Rousseau L; Stankowski JN; Stetler C; Daughrity LM; Perkerson EA; Desaro P; Johnston A; Overstreet K; Edbauer D; Rademakers R; Boylan KB; Dickson DW; Fryer JD; Petrucelli L
Science; 2015 Jun; 348(6239):1151-4. PubMed ID: 25977373
[TBL] [Abstract][Full Text] [Related]
18. Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
Pottier C; Bieniek KF; Finch N; van de Vorst M; Baker M; Perkersen R; Brown P; Ravenscroft T; van Blitterswijk M; Nicholson AM; DeTure M; Knopman DS; Josephs KA; Parisi JE; Petersen RC; Boylan KB; Boeve BF; Graff-Radford NR; Veltman JA; Gilissen C; Murray ME; Dickson DW; Rademakers R
Acta Neuropathol; 2015 Jul; 130(1):77-92. PubMed ID: 25943890
[TBL] [Abstract][Full Text] [Related]
19. Drosha inclusions are new components of dipeptide-repeat protein aggregates in FTLD-TDP and ALS C9orf72 expansion cases.
Porta S; Kwong LK; Trojanowski JQ; Lee VM
J Neuropathol Exp Neurol; 2015 Apr; 74(4):380-7. PubMed ID: 25756586
[TBL] [Abstract][Full Text] [Related]
20. Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease.
Theuns J; Verstraeten A; Sleegers K; Wauters E; Gijselinck I; Smolders S; Crosiers D; Corsmit E; Elinck E; Sharma M; Krüger R; Lesage S; Brice A; Chung SJ; Kim MJ; Kim YJ; Ross OA; Wszolek ZK; Rogaeva E; Xi Z; Lang AE; Klein C; Weissbach A; Mellick GD; Silburn PA; Hadjigeorgiou GM; Dardiotis E; Hattori N; Ogaki K; Tan EK; Zhao Y; Aasly J; Valente EM; Petrucci S; Annesi G; Quattrone A; Ferrarese C; Brighina L; Deutschländer A; Puschmann A; Nilsson C; Garraux G; LeDoux MS; Pfeiffer RF; Boczarska-Jedynak M; Opala G; Maraganore DM; Engelborghs S; De Deyn PP; Cras P; Cruts M; Van Broeckhoven C;
Neurology; 2014 Nov; 83(21):1906-13. PubMed ID: 25326098
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
