| 1 | FMR1, FXTAS
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| Altered expression of the FMR1 splicing variants landscape in premutation carriers.
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| Tseng E, Tang HT, AlOlaby RR, Hickey L, Tassone F.
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| Biochim Biophys Acta iochim Biophys Acta. 2017 Sep 6. pii: S1874-9399(17)30176-1. doi: 10.1016/j.bbagrm.2017.08.007. [Epub ahead of print]
2017
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| 2 | FRAXA, FXPOF, FXTAS
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| The FRAXopathies: definition, overview, and update.
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| Pirozzi F, Tabolacci E, Neri G.
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| Am J Med Genet A 155A(8):1803-16. doi: 10.1002/ajmg.a.34113. Epub 2011 Jul 7. 2011
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| 3 | FXTAS, KHDRBS1
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| Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients.
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| 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.
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| EMBO J 29(7):1248-61. Epub 2010 Feb 25. 2010
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| 4 | FXTAS
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| Advances in understanding the molecular basis of FXTAS.
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| Garcia-Arocena D, Hagerman PJ.
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| Hum Mol Genet 19(R1):R83-9. Epub 2010 Apr 29. Review.PMID: 20430935 2010
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| 5 | FMR1, FXTAS
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| Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome.
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| Ross-Inta C, Omanska-Klusek A, Wong S, Barrow C, Garcia-Arocena D, Iwahashi C, Berry-Kravis E, Hagerman RJ, Hagerman PJ, Giulivi C.
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| Biochem J 429(3):545-52.
2010
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| 6 | FMR1, FXTAS
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| Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature.
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| Hunter JE, Abramowitz A, Rusin M, Sherman SL.
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| Genet Med 11(2):79-89. 2009
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| 7 | FMR1, FXPOF, FXTAS
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| Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.
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| Rodriguez-Revenga L, Madrigal I, Pagonabarraga J, Xunclà M, Badenas C, Kulisevsky J, Gomez B, Milà M.
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| Eur J Hum Genet 17(10):1359-62. Epub 2009 Apr 15. 2009
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| 8 | FMR1, FXTAS
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| The FMR1 gene and fragile X-associated tremor/ataxia syndrome.
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| Brouwer JR, Willemsen R, Oostra BA.
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| Am J Med Genet B Neuropsychiatr Genet 150B(6):782-98. Review.PMID: 19105204 2009
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| 9 | FMR1, FXTAS
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| Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.
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| Sévin M, Kutalik Z, Bergman S, Vercelletto M, Renou P, Lamy E, Vingerhoets FJ, Di Virgilio G, Boisseau P, Bezieau S, Pasquier L, Rival JM, Beckmann JS, Damier P, Jacquemont S.
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| J Med Genet 46(12):818-24. Epub 2009 Jun 18.PMID: 19542082 2009
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| 10 | FMR1, FXTAS
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| A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes.
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| Loesch DZ, Cook M, Litewka L, Gould E, Churchyard A, Tassone F, Slater HR, Storey E.
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| J Med Genet 45(3):179-81. Epub 2007 Dec 5. 2008
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| 11 | FMR1, FXTAS
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| A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS.
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| Aguilar D, Sigford KE, Soontarapornchai K, Nguyen DV, Adams PE, Yuhas JM, Tassone F, Hagerman PJ, Hagerman RJ.
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| Am J Med Genet A 146(5):629-35. 2008
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| 12 | FXTAS
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| Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene.
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| Jenkins EC, Tassone F, Ye L, Gu H, Xi M, Velinov M, Brown WT, Hagerman RJ, Hagerman PJ.
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| Am J Med Genet A 146A(12):1543-6. 2008
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| 13 | FMR1, FXTAS
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| Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease.
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| Seritan AL, Nguyen DV, Farias ST, Hinton L, Grigsby J, Bourgeois JA, Hagerman RJ.
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| Am J Med Genet B Neuropsychiatr Genet 147B(7):1138-44.
2008
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| 14 | FMR1, FXTAS, FRAXA
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| Neuropathic features in fragile X premutation carriers.
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| Berry-Kravis E, Goetz CG, Leehey MA, Hagerman RJ, Zhang L, Li L, Nguyen D, Hall DA, Tartaglia N, Cogswell J, Tassone F, Hagerman PJ.
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| Am J Med Genet A 143(1):19-26. 2007
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| 15 | FMR1, FXTAS
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| Atypical clinical course of FXTAS: rapidly progressive dementia as the major symptom.
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| Gonçalves MR, Capelli LP, Nitrini R, Barbosa ER, Porto CS, Lucato LT, Vianna-Morgante AM.
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| Neurology 68(21):1864-6. No abstract available.
2007
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| 16 | FRAXA, FXPOF, FXTAS
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| The Fragile X premutation: new insights and clinical consequences.
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| Van Esch H.
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| Eur J Med Genet 49(1):1-8. Epub 2005 Dec 5. 2006
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| 17 | DYT3, FTDP17, FTDU17, FXTAS, LRRK2, MAPT, PARK1, PARK4, PARK5, PARK6, PARK7, PARK8, PINK1, PRKN, PSRP, SNCA, UCHL1
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| Genetics of Parkinson disease: paradigm shifts and future prospects.
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| Farrer MJ.
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| Nat Rev Genet 7(4):306-18. 2006
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| 18 | FXTAS
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| Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).
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| Greco CM, Berman RF, Martin RM, Tassone F, Schwartz PH, Chang A, Trapp BD, Iwahashi C, Brunberg J, Grigsby J, Hessl D, Becker EJ, Papazian J, Leehey MA, Hagerman RJ, Hagerman PJ.
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| Brain 129(Pt 1):243-55. Epub 2005 Dec 5. 2006
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| 19 | FXTAS
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| Protein composition of the intranuclear inclusions of FXTAS.
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| Iwahashi CK, Yasui DH, An HJ, Greco CM, Tassone F, Nannen K, Babineau B, Lebrilla CB, Hagerman RJ, Hagerman PJ.
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| Brain 129(Pt 1):256-71. Epub 2005 Oct 24. 2006
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| 20 | FMR1, FXTAS, FRAXA
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| Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond.
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| Loesch DZ, Churchyard A, Brotchie P, Marot M, Tassone F.
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| Clin Genet 67(5):412-7. 2005
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| 21 | LMNA, FXTAS, FMR1
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| Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells.
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| Arocena DG, Iwahashi CK, Won N, Beilina A, Ludwig AL, Tassone F, Schwartz PH, Hagerman PJ.
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| Hum Mol Genet 14(23):3661-71. Epub 2005 Oct 20. 2005
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| 22 | FXTAS, FMR1, FRAXA
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| Parkinsonism, FXTAS, and FMR1 premutations.
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| Toft M, Aasly J, Bisceglio G, Adler CH, Uitti RJ, Krygowska-Wajs A, Lynch T, Wszolek ZK, Farrer MJ.
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| Mov Disord 20(2):230-3. 2005
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| 23 | FMR1, FXTAS
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| Fragile-X-Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation.
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| Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, Hagerman PJ.
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| Am J Hum Genet 74(5):1051-6. Epub 2004 Apr 02. 2004
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| 24 | FMR1, FXTAS
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| Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
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| Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, Greco C, Des Portes V, Jardini T, Levine R, Berry-Kravis E, Brown WT, Schaeffer S, Kissel J, Tassone F, Hagerman PJ.
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| Am J Hum Genet 72(4):869-78. Epub 2003 Mar 12. 2003
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| 25 | FXTAS, FMR1
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| The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.
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| Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, Severijnen LA, Nieuwenhuizen IM, Schrier M, Van Unen L, Tassone F, Hoogeveen AT, Hagerman PJ, Mientjes EJ, Oostra BA.
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| Hum Mol Genet 12(9):949-59. 2003
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| 26 | AFF2, FXTAS
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| Something lost in the translation: 'premutations' in the FMR1 gene cause Fragile X tremor/ataxia syndrome (FXTAS).
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| Leavitt B.
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| Clin Genet 64(2):106-108. No abstract available. 2003
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| 27 | FMR1, FXTAS
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| A cerebellar tremor/ataxia syndrome among fragile X premutation carriers.
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| Hagerman PJ, Greco CM, Hagerman RJ.
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| Cytogenet Genome Res 100(1-4):206-12. 2003
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