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.
6. Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72. van Blitterswijk M; Gendron TF; Baker MC; DeJesus-Hernandez M; Finch NA; Brown PH; Daughrity LM; Murray ME; Heckman MG; Jiang J; Lagier-Tourenne C; Edbauer D; Cleveland DW; Josephs KA; Parisi JE; Knopman DS; Petersen RC; Petrucelli L; Boeve BF; Graff-Radford NR; Boylan KB; Dickson DW; Rademakers R Acta Neuropathol; 2015 Dec; 130(6):863-76. PubMed ID: 26437865 [TBL] [Abstract][Full Text] [Related]
7. Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients. Prudencio M; Gonzales PK; Cook CN; Gendron TF; Daughrity LM; Song Y; Ebbert MTW; van Blitterswijk M; Zhang YJ; Jansen-West K; Baker MC; DeTure M; Rademakers R; Boylan KB; Dickson DW; Petrucelli L; Link CD Hum Mol Genet; 2017 Sep; 26(17):3421-3431. PubMed ID: 28637276 [TBL] [Abstract][Full Text] [Related]
8. RNA editing regulates glutamatergic synapses in the frontal cortex of a molecular subtype of Amyotrophic Lateral Sclerosis. Karagianni K; Dafou D; Xanthopoulos K; Sklaviadis T; Kanata E Mol Med; 2024 Jul; 30(1):101. PubMed ID: 38997636 [TBL] [Abstract][Full Text] [Related]
9. Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases. Hübers A; Marroquin N; Schmoll B; Vielhaber S; Just M; Mayer B; Högel J; Dorst J; Mertens T; Just W; Aulitzky A; Wais V; Ludolph AC; Kubisch C; Weishaupt JH; Volk AE Neurobiol Aging; 2014 May; 35(5):1214.e1-6. PubMed ID: 24378086 [TBL] [Abstract][Full Text] [Related]
10. The Spatiotemporal Pattern of Degeneration in the Cerebellum of the Wobbler Mouse. Saberi D; Ott B; Dahlke C; Matschke V; Schmitt-John T; Theiss C J Neuropathol Exp Neurol; 2016 Apr; 75(4):347-57. PubMed ID: 26945034 [TBL] [Abstract][Full Text] [Related]
12. Value of 18fluorodeoxyglucose-positron-emission tomography in amyotrophic lateral sclerosis: a prospective study. Van Laere K; Vanhee A; Verschueren J; De Coster L; Driesen A; Dupont P; Robberecht W; Van Damme P JAMA Neurol; 2014 May; 71(5):553-61. PubMed ID: 24615479 [TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 23962495 [TBL] [Abstract][Full Text] [Related]
14. Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers. Dekker AM; Seelen M; van Doormaal PT; van Rheenen W; Bothof RJ; van Riessen T; Brands WJ; van der Kooi AJ; de Visser M; Voermans NC; Pasterkamp RJ; Veldink JH; van den Berg LH; van Es MA Neurobiol Aging; 2016 Mar; 39():220.e9-15. PubMed ID: 26777436 [TBL] [Abstract][Full Text] [Related]
15. RNA-Seq analysis of frontal cortex and cerebellum from 5XFAD mice at early stage of disease pathology. Kim KH; Moon M; Yu SB; Mook-Jung I; Kim JI J Alzheimers Dis; 2012; 29(4):793-808. PubMed ID: 22507954 [TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 23088937 [TBL] [Abstract][Full Text] [Related]
17. Cerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions. Tan RH; Kril JJ; McGinley C; Hassani M; Masuda-Suzukake M; Hasegawa M; Mito R; Kiernan MC; Halliday GM Ann Neurol; 2016 Feb; 79(2):295-305. PubMed ID: 26599997 [TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 22673113 [TBL] [Abstract][Full Text] [Related]
19. ALS: Recent Developments from Genetics Studies. Therrien M; Dion PA; Rouleau GA Curr Neurol Neurosci Rep; 2016 Jun; 16(6):59. PubMed ID: 27113253 [TBL] [Abstract][Full Text] [Related]