Research outputs

  1. 2019
  2. Mutant huntingtin impairs PNKP and ATXN3, disrupting DNA repair and transcription

    Gao, R., Chakraborty, A., Geater, C., Pradhan, S., Gordon, K. L., Snowden, J., Yuan, S., Dickey, A. S., Choudhary, S., Ashizawa, T., Ellerby, L. M., La Spada, A. R., Thompson, L. M., Hazra, T. K. & Sarkar, P. S., Apr 17 2019, In : eLife. 8

    Research output: Contribution to journalArticle

  3. Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial

    MGTX Study Group, Mar 1 2019, In : The Lancet Neurology. 18, 3, p. 259-268 10 p.

    Research output: Contribution to journalArticle

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

    Lai, R. Y., Tomishon, D., Figueroa, K. P., Pulst, S. M., Perlman, S., Wilmot, G., Gomez, C. M., Schmahmann, J. D., Paulson, H., Shakkottai, V. G., Ying, S. H., Zesiewicz, T., Bushara, K., Geschwind, M., Xia, G., Subramony, S. H., Ashizawa, T. & Kuo, S. H., Jan 1 2019, In : Cerebellum.

    Research output: Contribution to journalArticle

  5. 2018
  6. Consensus-based care recommendations for adults with myotonic dystrophy type 1

    Ashizawa, T., Gagnon, C., Groh, W. J., Gutmann, L., Johnson, N. E., Meola, G., Moxley, R., Pandya, S., Rogers, M. T., Simpson, E. P., Angeard, N., Bassez, G., Berggren, K. N., Bhakta, D., Bozzali, M., Broderick, A., Byrne, J. L. B., Campbell, C., Cup, E., Day, J. W. & 45 othersDe Mattia, E., Duboc, D., Duong, T., Eichinger, K., Ekstrom, A. B., Van Engelen, B., Esparis, B., Eymard, B., Ferschl, M., Gadalla, S. M., Gallais, B., Goodglick, T., Heatwole, C., Hilbert, J., Holland, V., Kierkegaard, M., Koopman, W. J., Lane, K., Maas, D., Mankodi, A., Mathews, K. D., Monckton, D. G., Moser, D., Nazarian, S., Nguyen, L., Nopoulos, P., Petty, R., Phetteplace, J., Puymirat, J., Raman, S., Richer, L., Roma, E., Sampson, J., Sansone, V., Schoser, B., Sterling, L., Statland, J., Subramony, S. H., Tian, C., Trujillo, C., Tomaselli, G., Turner, C., Verma, A., White, M. & Winblad, S., Dec 1 2018, In : Neurology: Clinical Practice. 8, 6, p. 507-520 14 p.

    Research output: Contribution to journalReview article

  7. Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies

    Xia, G., Terada, N. & Ashizawa, T., Dec 1 2018, In : Current Stem Cell Reports. 4, 4, p. 299-309 11 p.

    Research output: Contribution to journalReview article

  8. Longitudinal analysis of contrast acuity in Friedreich ataxia

    Hamedani, A. G., Hauser, L. A., Perlman, S., Mathews, K., Wilmot, G. R., Zesiewicz, T., Subramony, S. H., Ashizawa, T., Delatycki, M. B., Brocht, A. & Lynch, D. R., Aug 1 2018, In : Neurology: Genetics. 4, 4, e250.

    Research output: Contribution to journalArticle

  9. Intravenously Administered Novel Liposomes, DCL64, Deliver Oligonucleotides to Cerebellar Purkinje Cells

    Ashizawa, A. T., Holt, J., Faust, K., Liu, W., Tiwari, A., Zhang, N. & Ashizawa, T., Jul 9 2018, (Accepted/In press) In : Cerebellum. p. 1-10 10 p.

    Research output: Contribution to journalArticle

  10. Spinocerebellar ataxias type 3 and 10: Onset and progression of ataxia during pregnancy and puerperium

    Silva, G. V., Bonilha, P., Moro, A., Munhoz, R., Raskin, S., Ashizawa, T., Nascimento, F. A. & Teive, H. A. G., Jul 1 2018, In : Parkinsonism and Related Disorders. 52, p. 119-120 2 p.

    Research output: Contribution to journalLetter

  11. Olfactory Function in SCA10

    Moscovich, M., Munhoz, R. P., Moro, A., Raskin, S., McFarland, K., Ashizawa, T., Teive, H. A. G. & Silveira-Moriyama, L., Jun 19 2018, (Accepted/In press) In : Cerebellum. p. 1-6 6 p.

    Research output: Contribution to journalArticle

  12. Body composition in Spinocerebellar ataxia type 3 and 10 patients: Comparative study with control group

    Leite, C. D. M. B. A., Schieferdecker, M. E. M., Frehner, C., Munhoz, R. P., Ashizawa, T. & Teive, H. A. G., May 8 2018, (Accepted/In press) In : Nutritional Neuroscience. p. 1-6 6 p.

    Research output: Contribution to journalArticle

  13. Intron retention induced by microsatellite expansions as a disease biomarker

    Sznajder, Ł. J., Thomas, J. D., Carrell, E. M., Reid, T., McFarland, K. N., Cleary, J. D., Oliveira, R., Nutter, C. A., Bhatt, K., Sobczak, K., Ashizawa, T., Thornton, C. A., Ranum, L. P. W. & Swanson, M. S., Apr 17 2018, In : Proceedings of the National Academy of Sciences of the United States of America. 115, 16, p. 4234-4239 6 p.

    Research output: Contribution to journalArticle

  14. A crystal ball for survival for spinocerebellar ataxias?

    Ashizawa, T., Apr 1 2018, In : The Lancet Neurology. 17, 4, p. 292-294 3 p.

    Research output: Contribution to journalComment/debate

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

    Figueroa, K. P., Gan, S. R., Perlman, S., Wilmot, G., Gomez, C. M., Schmahmann, J., Paulson, H., Shakkottai, V. G., Ying, S. H., Zesiewicz, T., Bushara, K., Geschwind, M., Xia, G., Subramony, S. H., Ashizawa, T., Pulst, S. M. & Kuo, S. H., Mar 1 2018, In : Movement Disorders. 33, 3, p. 497-498 2 p.

    Research output: Contribution to journalLetter

  16. 99mTc-TRODAT-1 SPECT Showing Dopaminergic Deficiency in a Patient with Spinocerebellar Ataxia Type 10 and Parkinsonism

    Fabiani, G., Martins, R., Ashizawa, T., Germiniani, F. M. B. & Teive, H. A. G., Jan 1 2018, (Accepted/In press) In : Movement Disorders Clinical Practice.

    Research output: Contribution to journalArticle

  17. Erratum to: Spinocerebellar ataxias: prospects and challenges for therapy development (Nature Reviews Neurology, (2018), 14, 10, (590-605), 10.1038/s41582-018-0051-6)

    Ashizawa, T., Öz, G. & Paulson, H. L., Jan 1 2018, (Accepted/In press) In : Nature Reviews Neurology.

    Research output: Contribution to journalArticle

  18. Polymorphisms in DNA methylation–related genes are linked to the phenotype of Machado-Joseph disease

    Ding, D., Wang, C., Chen, Z., Peng, H., Li, K., Zhou, X., Peng, Y., Wang, P., Hou, X., Li, T., Qiu, R., Xia, K., Sequeiros, J., Ashizawa, T., Tang, B. & Jiang, H., Jan 1 2018, (Accepted/In press) In : Neurobiology of Aging.

    Research output: Contribution to journalArticle

  19. SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F

    Ayhan, F., Perez, B. A., Shorrock, H. K., Zu, T., Banez-Coronel, M., Reid, T., Furuya, H., Clark, H. B., Troncoso, J. C., Ross, C. A., Subramony, S. H., Ashizawa, T., Wang, E. T., Yachnis, A. T. & Ranum, L. P. W., Jan 1 2018, (Accepted/In press) In : EMBO Journal.

    Research output: Contribution to journalArticle

  20. 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., Jan 1 2018, (Accepted/In press) In : Molecular Therapy.

    Research output: Contribution to journalArticle

  21. Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia

    Zesiewicz, T. A., Wilmot, G., Han Kuo, S., Perlman, S., Greenstein, P. E., Sarah, Y., Ashizawa, T., Subramony, S. H., Schmahmann, J. D., Figueroa, K. P., Mizusawa, H., Schöls, L., Shaw, J. D., Dubinsky, R. M., Armstrong, M. J., Gronseth, G. S. & Sullivan, K. L., 2018, In : Neurology. 90, 10, p. 464-471 8 p.

    Research output: Contribution to journalArticle

  22. Sleep disorders in spinocerebellar ataxia type 10

    London, E., Camargo, C. H. F., Zanatta, A., Crippa, A. C., Raskin, S., Munhoz, R. P., Ashizawa, T. & Teive, H. A. G., 2018, (Accepted/In press) In : Journal of Sleep Research.

    Research output: Contribution to journalArticle

  23. Spinocerebellar ataxias: prospects and challenges for therapy development

    Ashizawa, T., Öz, G. & Paulson, H. L., 2018, (Accepted/In press) In : Nature Reviews Neurology.

    Research output: Contribution to journalArticle

  24. 2017
  25. Correction to: SPG7 and Impaired Emotional Communication (Cerebellum, (2016), 16, 2, (595-598), 10.1007/s12311-016-0818-5)

    Zhang, L., McFarland, K. N., Subramony, S. H., Heilman, K. M. & Ashizawa, T., Dec 1 2017, In : Cerebellum. 16, 5-6, 1 p.

    Research output: Contribution to journalComment/debate

  26. Postural tremor and ataxia progression in spinocerebellar ataxias

    Gan, S. R., Wang, J., Figueroa, K. P., Pulst, S. M., Tomishon, D., Lee, D., Perlman, S., Wilmot, G., Gomez, C. M., Schmahmann, J., Paulson, H., Shakkottai, V. G., Ying, S. H., Zesiewicz, T., Bushara, K., Geschwind, M. D., Xia, G., Subramony, S. H., Ashizawa, T. & Kuo, S. H., Oct 9 2017, In : Tremor and Other Hyperkinetic Movements. 7

    Research output: Contribution to journalArticle

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

    Zu, T., Cleary, J. D., Liu, Y., Bañez-Coronel, M., Bubenik, J. L., Ayhan, F., Ashizawa, T., Xia, G., Clark, H. B., Yachnis, A. T., Swanson, M. S. & Ranum, L. P. W., Sep 13 2017, In : Neuron. 95, 6, p. 1292-1305.e5

    Research output: Contribution to journalArticle

  28. Nonmotor Symptoms in Patients with Spinocerebellar Ataxia Type 10

    Moro, A., Munhoz, R. P., Moscovich, M., Arruda, W. O., Raskin, S., Silveira-Moriyama, L., Ashizawa, T. & Teive, H. A. G., Jun 6 2017, (Accepted/In press) In : Cerebellum. p. 1-7 7 p.

    Research output: Contribution to journalArticle

  29. The Initial Symptom and Motor Progression in Spinocerebellar Ataxias

    Luo, L., Wang, J., Lo, R. Y., Figueroa, K. P., Pulst, S. M., Kuo, P. H., Perlman, S., Wilmot, G., Gomez, C. M., Schmahmann, J. D., Paulson, H., Shakkottai, V. G., Ying, S. H., Zesiewicz, T., Bushara, K., Geschwind, M., Xia, G., Subramony, S. H., Ashizawa, T. & Kuo, S. H., Jun 1 2017, In : Cerebellum. 16, 3, p. 615-622 8 p.

    Research output: Contribution to journalArticle

  30. A Comparative Optical Coherence Tomography Study of Spinocerebellar Ataxia Types 3 and 10

    Spina Tensini, F., Sato, M. T., Shiokawa, N., Ashizawa, T. & Teive, H. A. G., Apr 11 2017, (Accepted/In press) In : Cerebellum. p. 1-5 5 p.

    Research output: Contribution to journalArticle

  31. Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions

    Landrian, I., McFarland, K. N., Liu, J., Mulligan, C. J., Rasmussen, A. & Ashizawa, T., Apr 1 2017, In : PLoS ONE. 12, 4, e0175958.

    Research output: Contribution to journalArticle

  32. Ubiquitin-related network underlain by (CAG)n loci modulate age at onset in Machado-Joseph disease

    on behalf of the Chinese Clinical Research Cooperative Group for Spinocerebellar Ataxias (CCRCG-SCA), Apr 1 2017, In : Brain. 140, 4, p. e25

    Research output: Contribution to journalLetter

  33. RNA toxicity and foci formation in microsatellite expansion diseases

    Nan, Z. & Ashizawa, T., Feb 13 2017, In : Current Opinion in Genetics and Development. 44, p. 17-29 13 p., 44.

    Research output: Contribution to journalBook/Film/Article review

  34. Dystonia and ataxia progression in spinocerebellar ataxias

    Kuo, P. H., Gan, S. R., Wang, J., Lo, R. Y., Figueroa, K. P., Tomishon, D., Pulst, S. M., Perlman, S., Wilmot, G., Gomez, C. M., Schmahmann, J. D., Paulson, H., Shakkottai, V. G., Ying, S. H., Zesiewicz, T., Bushara, K., Geschwind, M. D., Xia, G., Subramony, S. H., Ashizawa, T. & 1 othersKuo, S. H., 2017, (Accepted/In press) In : Parkinsonism and Related Disorders.

    Research output: Contribution to journalArticle

  35. 2016
  36. ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis

    Li, P. P., Sun, X., Xia, G., Arbez, N., Paul, S., Zhu, S., Peng, H. B., Ross, C. A., Koeppen, A. H., Margolis, R. L., Pulst, S. M., Ashizawa, T. & Rudnicki, D. D., Oct 1 2016, In : Annals of Neurology. 80, 4, p. 600-615 16 p.

    Research output: Contribution to journalArticle

  37. SPG7 and Impaired Emotional Communication

    Zhang, L., McFarland, K. N., Subramony, S. H., Heilman, K. M. & Ashizawa, T., Aug 24 2016, (Accepted/In press) In : Cerebellum. p. 1-4 4 p.

    Research output: Contribution to journalArticle

  38. (CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China

    Chen, Z., Zheng, C., Long, Z., Cao, L., Li, X., Shang, H., Yin, X., Zhang, B., Liu, J., Ding, D., Peng, Y., Wang, C., Peng, H., Ye, W., Qiu, R., Pan, Q., Xia, K., Chen, S., Sequeiros, J., Ashizawa, T. & 3 othersKlockgether, T., Tang, B. & Jiang, H., Aug 1 2016, In : Brain. 139, 8, p. e41

    Research output: Contribution to journalLetter

  39. Ataxia

    Ashizawa, T. & Xia, G., Aug 1 2016, In : CONTINUUM Lifelong Learning in Neurology. 22, 4,MovementDisorders, p. 1208-1226 19 p.

    Research output: Contribution to journalReview article

  40. 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., Jun 28 2016, (Accepted/In press) In : Molecular Therapy.

    Research output: Contribution to journalArticle

  41. Sensory and motor cortex function contributes to symptom severity in spinocerebellar ataxia type 6

    Kang, N., Christou, E. A., Burciu, R. G., Chung, J. W., DeSimone, J. C., Ofori, E., Ashizawa, T., Subramony, S. H. & Vaillancourt, D. E., Jun 28 2016, (Accepted/In press) In : Brain Structure and Function. p. 1-14 14 p.

    Research output: Contribution to journalArticle

  42. Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies

    Paap, B. K., Roeske, S., Durr, A., Schöls, L., Ashizawa, T., Boesch, S., Bunn, L. M., Delatycki, M. B., Giunti, P., Lehéricy, S., Mariotti, C., Melegh, J., Pandolfo, M., Tallaksen, C. M. E., Timmann, D., Tsuji, S., Schulz, J. B., van de Warrenburg, B. P. & Klockgether, T., May 1 2016, In : Movement Disorders Clinical Practice. 3, 3, p. 230-240 11 p.

    Research output: Contribution to journalArticle

  43. Rare neurological channelopathies-networks to study patients, pathogenesis and treatment

    Jen, J. C., Ashizawa, T., Griggs, R. C. & Waters, M. F., Apr 1 2016, In : Nature Reviews Neurology. 12, 4, p. 195-203 9 p.

    Research output: Contribution to journalArticle

  44. Emerging therapies in Friedreich's ataxia

    Aranca, T. V., Jones, T. M., Shaw, J. D., Staffetti, J. S., Ashizawa, T., Kuo, S. H., Fogel, B. L., Wilmot, G. R., Perlman, S. L., Onyike, C. U., Ying, S. H. & Zesiewicz, T. A., Jan 19 2016, In : Neurodegenerative disease management. 6, 1, p. 49-65 17 p.

    Research output: Contribution to journalReview article

  45. Depression and clinical progression in spinocerebellar ataxias

    Lo, R. Y., Figueroa, K. P., Pulst, S. M., Perlman, S., Wilmot, G., Gomez, C., Schmahmann, J., Paulson, H., Shakkottai, V. G., Ying, S., Zesiewicz, T., Bushara, K., Geschwind, M., Xia, G., Yu, J. T., Lee, L. E., Ashizawa, T., Subramony, S. H. & Kuo, S. H., Jan 1 2016, In : Parkinsonism and Related Disorders. 22, p. 87-92 6 p.

    Research output: Contribution to journalArticle

  46. 2015
  47. High Serum GFAP Levels in SCA3/MJD May Not Correlate with Disease Progression

    Shi, Y., Wang, C., Huang, F., Chen, Z., Sun, Z., Wang, J., Tang, B., Ashizawa, T., Klockgether, T. & Jiang, H., Dec 1 2015, In : Cerebellum. 14, 6, p. 677-681 5 p.

    Research output: Contribution to journalArticle

  48. Successful aging: Advancing the science of physical independence in older adults

    Anton, S. D., Woods, A. J., Ashizawa, T., Barb, D., Buford, T. W., Carter, C. S., Clark, D. J., Cohen, R. A., Corbett, D. B., Cruz-Almeida, Y., Dotson, V., Ebner, N., Efron, P. A., Fillingim, R. B., Foster, T. C., Gundermann, D. M., Joseph, A. M., Karabetian, C., Leeuwenburgh, C., Manini, T. M. & 15 othersMarsiske, M., Mankowski, R. T., Mutchie, H. L., Perri, M. G., Ranka, S., Rashidi, P., Sandesara, B., Scarpace, P. J., Sibille, K. T., Solberg, L. M., Someya, S., Uphold, C., Wohlgemuth, S., Wu, S. S. & Pahor, M., Nov 1 2015, In : Ageing Research Reviews. 24, p. 304-327 24 p.

    Research output: Contribution to journalArticle

  49. Spinocerebellar ataxia type 10 in Chinese Han

    Wang, K., McFarland, K. N., Liu, J., Zeng, D., Landrian, I., Xia, G., Hao, Y., Jin, M., Mulligan, C. J., Gu, W. & Ashizawa, T., Oct 1 2015, In : Neurology: Genetics. 1, 3, p. e26 e26.

    Research output: Contribution to journalArticle

  50. SMRT sequencing of long tandem nucleotide repeats in SCA10 reveals unique insight of repeat expansion structure

    McFarl, K. N., Liu, J., Landrian, I., Godiska, R., Shanker, S., Yu, F., Farmerie, W. G. & Ashizawa, T., Aug 21 2015, In : PLoS ONE. 10, 8, e0135906.

    Research output: Contribution to journalArticle

  51. Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome

    Teive, H. A. G., Moro, A., Moscovich, M., Arruda, W. O., Munhoz, R. P., Raskin, S. & Ashizawa, T., Aug 15 2015, In : Journal of the neurological sciences. 355, 1-2, p. 3-6 4 p.

    Research output: Contribution to journalArticle

  52. Primary and secondary ataxias

    Teive, H. A. G. & Ashizawa, T., Aug 10 2015, In : Current Opinion in Neurology. 28, 4, p. 413-422 10 p.

    Research output: Contribution to journalArticle

  53. Bolivian kindred with combined spinocerebellar ataxia types 2 and 10

    Baizabal-Carvallo, J. F., Xia, G., Botros, P., Laguna, J., Ashizawa, T. & Jankovic, J., Aug 1 2015, In : Acta Neurologica Scandinavica. 132, 2, p. 139-142 4 p.

    Research output: Contribution to journalArticle

  54. Ataxia espinocerebelar tipo 10 no sul do Brasil: A conexão Ameríndia-Belga

    Teive, H. A. G., Moro, A., Moscovich, M., Arruda, W. O., Munhoz, R. P., Raskin, S., Teive, G. M. G., Dallabrida, N. & Ashizawa, T., Aug 2015, In : Arquivos de Neuro-Psiquiatria. 73, 8, p. 725-727 3 p.

    Research output: Contribution to journalArticle

  55. Analysis of the GGGGCC repeat expansions of the C9orf72 gene in SCA3/MJD patients from China

    Wang, C., Chen, Z., Yang, F., Jiao, B., Peng, H., Shi, Y., Wang, Y., Huang, F., Wang, J., Shen, L., Xia, K., Tang, B., Ashizawa, T. & Jiang, H., Jun 17 2015, In : PLoS ONE. 10, 6, e0130336.

    Research output: Contribution to journalArticle

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