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Items: 1 to 20 of 32

1.

Unraveling the Pathways to Neuronal Homeostasis and Disease: Mechanistic Insights into the Role of RNA-Binding Proteins and Associated Factors.

Ravanidis S, Kattan FG, Doxakis E.

Int J Mol Sci. 2018 Aug 3;19(8). pii: E2280. doi: 10.3390/ijms19082280. Review.

2.

Models and mechanisms of repeat expansion disorders: a worm's eye view.

Rudich P, Lamitina T.

J Genet. 2018 Jul;97(3):665-677. Review.

3.

Fragile X syndrome and fragile X-associated tremor ataxia syndrome.

Hall DA, Berry-Kravis E.

Handb Clin Neurol. 2018;147:377-391. doi: 10.1016/B978-0-444-63233-3.00025-7. Review.

PMID:
29325626
4.

Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.

Aydin G, Dekomien G, Hoffjan S, Gerding WM, Epplen JT, Arning L.

BMC Neurol. 2018 Jan 9;18(1):3. doi: 10.1186/s12883-017-1009-9.

5.

Tremor-Ataxia syndrome and primary ovarian insufficiency in an FMR1 premutation carrier.

Saldarriaga-Gil W, Rodriguez-Guerrero T, Fandiño-Losada A, Ramirez-Cheyne J.

Colomb Med (Cali). 2017 Sep 30;48(3):148-151. doi: 10.25100/cm.v48i3.3019.

6.

Health problems in females carriers of premutation in the FMR1 gene.

Lisik MZ.

Psychiatr Pol. 2017 Oct 29;51(5):899-907. doi: 10.12740/PP/65778. Epub 2017 Oct 29. Review. English, Polish.

7.

RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response.

Green KM, Glineburg MR, Kearse MG, Flores BN, Linsalata AE, Fedak SJ, Goldstrohm AC, Barmada SJ, Todd PK.

Nat Commun. 2017 Dec 8;8(1):2005. doi: 10.1038/s41467-017-02200-0.

8.

Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing.

Esposito G, Tremolaterra MR, Savarese M, Spiniello M, Patrizio MP, Lombardo B, Pastore L, Salvatore F, Carsana A.

Clin Chim Acta. 2018 Jan;476:167-172. doi: 10.1016/j.cca.2017.11.016. Epub 2017 Nov 21.

9.

Fragile X-associated tremor/ataxia syndrome.

Hoem G, Koht J.

Tidsskr Nor Laegeforen. 2017 Oct 30;137(20). doi: 10.4045/tidsskr.17.0317. Print 2017 Oct 31. Review. English, Norwegian.

10.

Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length.

Albizua I, Rambo-Martin BL, Allen EG, He W, Amin AS, Sherman SL.

Am J Med Genet A. 2017 Nov;173(11):2985-2994. doi: 10.1002/ajmg.a.38476. Epub 2017 Sep 21.

11.

Altered expression of the FMR1 splicing variants landscape in premutation carriers.

Tseng E, Tang HT, AlOlaby RR, Hickey L, Tassone F.

Biochim Biophys Acta Gene Regul Mech. 2017 Nov;1860(11):1117-1126. doi: 10.1016/j.bbagrm.2017.08.007. Epub 2017 Sep 7.

12.

Recent advances in assays for the fragile X-related disorders.

Hayward BE, Kumari D, Usdin K.

Hum Genet. 2017 Oct;136(10):1313-1327. doi: 10.1007/s00439-017-1840-5. Epub 2017 Sep 2. Review.

13.

Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases.

Lechpammer M, Martínez Cerdeńo V, Hunsaker MR, Hah M, Gonzales H, Tisch S, Joffe R, Pamphlett R, Tassone F, Hagerman PJ, Bolitho SJ, Hagerman RJ.

Croat Med J. 2017 Aug 31;58(4):310-315.

14.

RNA biology of disease-associated microsatellite repeat expansions.

Rohilla KJ, Gagnon KT.

Acta Neuropathol Commun. 2017 Aug 29;5(1):63. doi: 10.1186/s40478-017-0468-y. Review.

15.

Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome.

Wang JY, Trivedi AM, Carrillo NR, Yang J, Schneider A, Giulivi C, Adams P, Tassone F, Kim K, Rivera SM, Lubarr N, Wu CY, Irwin RW, Brinton RD, Olichney JM, Rogawski MA, Hagerman RJ.

Neurotherapeutics. 2017 Oct;14(4):1073-1083. doi: 10.1007/s13311-017-0555-6.

16.

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.

Gebus O, Montaut S, Monga B, Wirth T, Cheraud C, Alves Do Rego C, Zinchenko I, Carré G, Hamdaoui M, Hautecloque G, Nguyen-Them L, Lannes B, Chanson JB, Lagha-Boukbiza O, Fleury MC, Devys D, Nicolas G, Rudolf G, Bereau M, Mallaret M, Renaud M, Acquaviva C, Koenig M, Koob M, Kremer S, Namer IJ, Cazeneuve C, Echaniz-Laguna A, Tranchant C, Anheim M.

J Neurol. 2017 Jun;264(6):1118-1126. doi: 10.1007/s00415-017-8500-5. Epub 2017 May 6.

PMID:
28478596
17.

White matter microstructure, cognition, and molecular markers in fragile X premutation females.

Shelton AL, Cornish KM, Godler D, Bui QM, Kolbe S, Fielding J.

Neurology. 2017 May 30;88(22):2080-2088. doi: 10.1212/WNL.0000000000003979. Epub 2017 May 5. Erratum in: Neurology. 2017 Sep 26;89(13):1430.

PMID:
28476762
18.

Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome.

Robin G, López JR, Espinal GM, Hulsizer S, Hagerman PJ, Pessah IN.

Hum Mol Genet. 2017 Jul 15;26(14):2649-2666. doi: 10.1093/hmg/ddx148.

19.

2D and 3D FISH of expanded repeat RNAs in human lymphoblasts.

Urbanek MO, Michalak M, Krzyzosiak WJ.

Methods. 2017 May 1;120:49-57. doi: 10.1016/j.ymeth.2017.04.002. Epub 2017 Apr 9.

PMID:
28404480
20.

Fragile X-associated tremor/ataxia syndrome: cognitive presentations.

Connon P, Larner AJ.

Br J Hosp Med (Lond). 2017 Apr 2;78(4):230-231. doi: 10.12968/hmed.2017.78.4.230. No abstract available.

PMID:
28398884

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