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. Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation Before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor/Ataxia Syndrome. Napoli E; Song G; Wong S; Hagerman R; Giulivi C Cerebellum; 2016 Oct; 15(5):552-64. PubMed ID: 27089882 [TBL] [Abstract][Full Text] [Related]
7. Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome. Castro H; Kul E; Buijsen RAM; Severijnen LWFM; Willemsen R; Hukema RK; Stork O; Santos M Hum Mol Genet; 2017 Jun; 26(11):2133-2145. PubMed ID: 28369393 [TBL] [Abstract][Full Text] [Related]
8. Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development. Botta-Orfila T; Tartaglia GG; Michalon A Cerebellum; 2016 Oct; 15(5):599-610. PubMed ID: 27277287 [TBL] [Abstract][Full Text] [Related]
9. Small Molecule Screening Discovers Compounds that Reduce FMRpolyG Protein Aggregates and Splicing Defect Toxicity in Fragile X-Associated Tremor/Ataxia Syndrome. Verma AK; Khan E; Mishra SK; Kumar A Mol Neurobiol; 2022 Mar; 59(3):1992-2007. PubMed ID: 35040038 [TBL] [Abstract][Full Text] [Related]
10. FMRpolyG alters mitochondrial transcripts level and respiratory chain complex assembly in Fragile X associated tremor/ataxia syndrome [FXTAS]. Gohel D; Sripada L; Prajapati P; Singh K; Roy M; Kotadia D; Tassone F; Charlet-Berguerand N; Singh R Biochim Biophys Acta Mol Basis Dis; 2019 Jun; 1865(6):1379-1388. PubMed ID: 30771487 [TBL] [Abstract][Full Text] [Related]
11. Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. Sellier C; Rau F; Liu Y; Tassone F; Hukema RK; Gattoni R; Schneider A; Richard S; Willemsen R; Elliott DJ; Hagerman PJ; Charlet-Berguerand N EMBO J; 2010 Apr; 29(7):1248-61. PubMed ID: 20186122 [TBL] [Abstract][Full Text] [Related]
12. Protein composition of the intranuclear inclusions of FXTAS. Iwahashi CK; Yasui DH; An HJ; Greco CM; Tassone F; Nannen K; Babineau B; Lebrilla CB; Hagerman RJ; Hagerman PJ Brain; 2006 Jan; 129(Pt 1):256-71. PubMed ID: 16246864 [TBL] [Abstract][Full Text] [Related]
13. The 3' UTR of FMR1 mRNA is a target of miR-101, miR-129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse. Zongaro S; Hukema R; D'Antoni S; Davidovic L; Barbry P; Catania MV; Willemsen R; Mari B; Bardoni B Hum Mol Genet; 2013 May; 22(10):1971-82. PubMed ID: 23390134 [TBL] [Abstract][Full Text] [Related]
14. Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. Buijsen RA; Visser JA; Kramer P; Severijnen EA; Gearing M; Charlet-Berguerand N; Sherman SL; Berman RF; Willemsen R; Hukema RK Hum Reprod; 2016 Jan; 31(1):158-68. PubMed ID: 26537920 [TBL] [Abstract][Full Text] [Related]
15. DDX3X and specific initiation factors modulate FMR1 repeat-associated non-AUG-initiated translation. Linsalata AE; He F; Malik AM; Glineburg MR; Green KM; Natla S; Flores BN; Krans A; Archbold HC; Fedak SJ; Barmada SJ; Todd PK EMBO Rep; 2019 Sep; 20(9):e47498. PubMed ID: 31347257 [TBL] [Abstract][Full Text] [Related]
16. Cerebellar Mild Iron Accumulation in a Subset of FMR1 Premutation Carriers with FXTAS. Rogers H; Ariza J; Monterrubio A; Hagerman P; Martínez-Cerdeño V Cerebellum; 2016 Oct; 15(5):641-4. PubMed ID: 27259564 [TBL] [Abstract][Full Text] [Related]
17. Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo. Hukema RK; Buijsen RA; Raske C; Severijnen LA; Nieuwenhuizen-Bakker I; Minneboo M; Maas A; de Crom R; Kros JM; Hagerman PJ; Berman RF; Willemsen R Cell Cycle; 2014; 13(16):2600-8. PubMed ID: 25486200 [TBL] [Abstract][Full Text] [Related]
18. Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males. Birch RC; Hocking DR; Cornish KM; Menant JC; Georgiou-Karistianis N; Godler DE; Wen W; Hackett A; Rogers C; Trollor JN Genes Brain Behav; 2015 Mar; 14(3):251-9. PubMed ID: 25689687 [TBL] [Abstract][Full Text] [Related]
19. Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. Sellier C; Freyermuth F; Tabet R; Tran T; He F; Ruffenach F; Alunni V; Moine H; Thibault C; Page A; Tassone F; Willemsen R; Disney MD; Hagerman PJ; Todd PK; Charlet-Berguerand N Cell Rep; 2013 Mar; 3(3):869-80. PubMed ID: 23478018 [TBL] [Abstract][Full Text] [Related]
20. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. Jacquemont S; Hagerman RJ; Leehey MA; Hall DA; Levine RA; Brunberg JA; Zhang L; Jardini T; Gane LW; Harris SW; Herman K; Grigsby J; Greco CM; Berry-Kravis E; Tassone F; Hagerman PJ JAMA; 2004 Jan; 291(4):460-9. PubMed ID: 14747503 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]