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Items: 1 to 20 of 42

1.

Abnormal nuclear aggregation and myotube degeneration in myotonic dystrophy type 1.

Wang Y, Hao L, Li H, Cleary JD, Tomac MP, Thapa A, Guo X, Zeng D, Wang H, McRae M, Jastrzemski O, Smith-Fassler AM, Xu Y, Xia G.

Neurol Sci. 2019 Mar 19. doi: 10.1007/s10072-019-03783-w. [Epub ahead of print]

PMID:
30891637
2.

Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor.

Lai RY, Tomishon D, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo SH.

Cerebellum. 2019 Mar 4. doi: 10.1007/s12311-019-01016-6. [Epub ahead of print]

PMID:
30830673
3.

Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies.

Xia G, Terada N, Ashizawa T.

Curr Stem Cell Rep. 2018;4(4):299-309. doi: 10.1007/s40778-018-0145-5. Epub 2018 Oct 4. Review.

4.

Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9.

Wang Y, Hao L, Wang H, Santostefano K, Thapa A, Cleary J, Li H, Guo X, Terada N, Ashizawa T, Xia G.

Mol Ther. 2018 Nov 7;26(11):2617-2630. doi: 10.1016/j.ymthe.2018.09.003. Epub 2018 Sep 11.

5.

Furamidine Rescues Myotonic Dystrophy Type I Associated Mis-Splicing through Multiple Mechanisms.

Jenquin JR, Coonrod LA, Silverglate QA, Pellitier NA, Hale MA, Xia G, Nakamori M, Berglund JA.

ACS Chem Biol. 2018 Sep 21;13(9):2708-2718. doi: 10.1021/acschembio.8b00646. Epub 2018 Aug 27.

6.

Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients.

Lee S, Bazick H, Chittoor-Vinod V, Al Salihi MO, Xia G, Notterpek L.

Am J Pathol. 2018 Mar;188(3):728-738. doi: 10.1016/j.ajpath.2017.10.021. Epub 2017 Dec 12.

7.

C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias.

Figueroa KP, Gan SR, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Pulst SM, Kuo SH.

Mov Disord. 2018 Mar;33(3):497-498. doi: 10.1002/mds.27258. Epub 2017 Nov 29. No abstract available.

8.

Dystonia and ataxia progression in spinocerebellar ataxias.

Kuo PH, Gan SR, Wang J, Lo RY, Figueroa KP, Tomishon D, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Ashizawa T, Kuo SH.

Parkinsonism Relat Disord. 2017 Dec;45:75-80. doi: 10.1016/j.parkreldis.2017.10.007. Epub 2017 Oct 23.

9.

Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias.

Gan SR, Wang J, Figueroa KP, Pulst SM, Tomishon D, Lee D, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Ashizawa T, Kuo SH.

Tremor Other Hyperkinet Mov (N Y). 2017 Oct 9;7:492. doi: 10.7916/D8GM8KRH. eCollection 2017.

10.

Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9.

Pinto BS, Saxena T, Oliveira R, Méndez-Gómez HR, Cleary JD, Denes LT, McConnell O, Arboleda J, Xia G, Swanson MS, Wang ET.

Mol Cell. 2017 Nov 2;68(3):479-490.e5. doi: 10.1016/j.molcel.2017.09.033. Epub 2017 Oct 19.

11.

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2.

Zu T, Cleary JD, Liu Y, Bañez-Coronel M, Bubenik JL, Ayhan F, Ashizawa T, Xia G, Clark HB, Yachnis AT, Swanson MS, Ranum LPW.

Neuron. 2017 Sep 13;95(6):1292-1305.e5. doi: 10.1016/j.neuron.2017.08.039.

12.

Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9.

Batra R, Nelles DA, Pirie E, Blue SM, Marina RJ, Wang H, Chaim IA, Thomas JD, Zhang N, Nguyen V, Aigner S, Markmiller S, Xia G, Corbett KD, Swanson MS, Yeo GW.

Cell. 2017 Aug 24;170(5):899-912.e10. doi: 10.1016/j.cell.2017.07.010. Epub 2017 Aug 10.

13.

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript.

Ramani B, Harris GM, Huang R, Seki T, Murphy GG, Carmo Costa MD, Fischer S, Saunders TL, Xia G, McEachin RC, Paulson HL.

Hum Mol Genet. 2017 Aug 15;26(16):3232-3233. doi: 10.1093/hmg/ddx176. No abstract available.

14.

The Initial Symptom and Motor Progression in Spinocerebellar Ataxias.

Luo L, Wang J, Lo RY, Figueroa KP, Pulst SM, Kuo PH, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Kuo SH.

Cerebellum. 2017 Jun;16(3):615-622. doi: 10.1007/s12311-016-0836-3.

15.

ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis.

Li PP, Sun X, Xia G, Arbez N, Paul S, Zhu S, Peng HB, Ross CA, Koeppen AH, Margolis RL, Pulst SM, Ashizawa T, Rudnicki DD.

Ann Neurol. 2016 Oct;80(4):600-15. doi: 10.1002/ana.24761.

PMID:
27531668
16.

Ataxia.

Ashizawa T, Xia G.

Continuum (Minneap Minn). 2016 Aug;22(4 Movement Disorders):1208-26. doi: 10.1212/CON.0000000000000362. Review.

17.

Genome Therapy of Myotonic Dystrophy Type 1 iPS Cells for Development of Autologous Stem Cell Therapy.

Gao Y, Guo X, Santostefano K, Wang Y, Reid T, Zeng D, Terada N, Ashizawa T, Xia G.

Mol Ther. 2016 Aug;24(8):1378-87. doi: 10.1038/mt.2016.97. Epub 2016 May 12.

18.

Spinocerebellar ataxia type 10 in Chinese Han.

Wang K, McFarland KN, Liu J, Zeng D, Landrian I, Xia G, Hao Y, Jin M, Mulligan CJ, Gu W, Ashizawa T.

Neurol Genet. 2015 Oct 8;1(3):e26. doi: 10.1212/NXG.0000000000000026. eCollection 2015 Oct.

19.

Depression and clinical progression in spinocerebellar ataxias.

Lo RY, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez C, Schmahmann J, Paulson H, Shakkottai VG, Ying S, Zesiewicz T, Bushara K, Geschwind M, Xia G, Yu JT, Lee LE, Ashizawa T, Subramony SH, Kuo SH.

Parkinsonism Relat Disord. 2016 Jan;22:87-92. doi: 10.1016/j.parkreldis.2015.11.021. Epub 2015 Nov 22.

20.

Dynamic changes of nuclear RNA foci in proliferating DM1 cells.

Xia G, Ashizawa T.

Histochem Cell Biol. 2015 Jun;143(6):557-64. doi: 10.1007/s00418-015-1315-5. Epub 2015 Feb 26.

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