These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion. Brettschneider J; Van Deerlin VM; Robinson JL; Kwong L; Lee EB; Ali YO; Safren N; Monteiro MJ; Toledo JB; Elman L; McCluskey L; Irwin DJ; Grossman M; Molina-Porcel L; Lee VM; Trojanowski JQ Acta Neuropathol; 2012 Jun; 123(6):825-39. PubMed ID: 22426854 [TBL] [Abstract][Full Text] [Related]
5. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Sabatelli M; Conforti FL; Zollino M; Mora G; Monsurrò MR; Volanti P; Marinou K; Salvi F; Corbo M; Giannini F; Battistini S; Penco S; Lunetta C; Quattrone A; Gambardella A; Logroscino G; Simone I; Bartolomei I; Pisano F; Tedeschi G; Conte A; Spataro R; La Bella V; Caponnetto C; Mancardi G; Mandich P; Sola P; Mandrioli J; Renton AE; Majounie E; Abramzon Y; Marrosu F; Marrosu MG; Murru MR; Sotgiu MA; Pugliatti M; Rodolico C; ; Moglia C; Calvo A; Ossola I; Brunetti M; Traynor BJ; Borghero G; Restagno G; Chiò A Neurobiol Aging; 2012 Aug; 33(8):1848.e15-20. PubMed ID: 22418734 [TBL] [Abstract][Full Text] [Related]
6. Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion. Bieniek KF; Murray ME; Rutherford NJ; Castanedes-Casey M; DeJesus-Hernandez M; Liesinger AM; Baker MC; Boylan KB; Rademakers R; Dickson DW Acta Neuropathol; 2013 Feb; 125(2):289-302. PubMed ID: 23053135 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients. Mok KY; Koutsis G; Schottlaender LV; Polke J; Panas M; Houlden H Neurobiol Aging; 2012 Aug; 33(8):1851.e1-5. PubMed ID: 22445326 [TBL] [Abstract][Full Text] [Related]
9. Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians. Kohli MA; John-Williams K; Rajbhandary R; Naj A; Whitehead P; Hamilton K; Carney RM; Wright C; Crocco E; Gwirtzman HE; Lang R; Beecham G; Martin ER; Gilbert J; Benatar M; Small GW; Mash D; Byrd G; Haines JL; Pericak-Vance MA; Züchner S Neurobiol Aging; 2013 May; 34(5):1519.e5-12. PubMed ID: 23107433 [TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 22154785 [TBL] [Abstract][Full Text] [Related]
11. The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues. Woollacott IO; Mead S Acta Neuropathol; 2014 Mar; 127(3):319-32. PubMed ID: 24515836 [TBL] [Abstract][Full Text] [Related]
12. The association between repeat number in C9orf72 and phenotypic variability in Turkish patients with frontotemporal lobar degeneration. Erzurumluoglu E; Cilingir O; Ozbabalik Adapinar BD; Bilgic B; Kocagil S; Ozen H; Durak Aras B; Yenilmez C; Artan S Neurobiol Aging; 2019 Apr; 76():216.e1-216.e7. PubMed ID: 30685122 [TBL] [Abstract][Full Text] [Related]
13. Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum. Cruts M; Gijselinck I; Van Langenhove T; van der Zee J; Van Broeckhoven C Trends Neurosci; 2013 Aug; 36(8):450-9. PubMed ID: 23746459 [TBL] [Abstract][Full Text] [Related]
14. Cerebrospinal fluid biomarkers for Alzheimer's disease in patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis with the C9ORF72 repeat expansion. Kämäläinen A; Herukka SK; Hartikainen P; Helisalmi S; Moilanen V; Knuuttila A; Jansson L; Tienari PJ; Remes AM Dement Geriatr Cogn Disord; 2015; 39(5-6):287-93. PubMed ID: 25791939 [TBL] [Abstract][Full Text] [Related]
15. Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients. Mordes DA; Prudencio M; Goodman LD; Klim JR; Moccia R; Limone F; Pietilainen O; Chowdhary K; Dickson DW; Rademakers R; Bonini NM; Petrucelli L; Eggan K Acta Neuropathol Commun; 2018 Jul; 6(1):55. PubMed ID: 29973287 [TBL] [Abstract][Full Text] [Related]