Fragile X Spectrum

Google Scholar Citations

Publications: Fragile X Syndrome, FXTAS, Premutation


  1. Berry-Kravis, E., Goetz, C.G., Leehey, M., Hagerman, R., Zhang, L., Li, L., Nguyen, D.V., Hall, D., Tartaglia, N., Cogswell, J., Tassone, F. and Hagerman, P. (2007) Neuropathic features in fragile X premutation carriers. American Journal of Medical Genetics, 143A, 19-26.
  2. Adams, J.S., Adams, P.E., Nguyen, D.V., Brunberg, J.A., Tassone, F., Zhang, W., Koldewyn, K., Rivera, S.M., Grigsby, J., Zhang, L., DeCarli, C., Hagerman, P. and Hagerman, R. (2007) Volumetric brain changes in females with fragile X associated tremor/ataxia syndrome (FXTAS). Neurology, 69, 851-859.
  3. Seritan, A., Nguyen D.V., Farias, S., Fakhri, D., Hinton, L., Grigsby, J., Bourgeois, J.A., Hagerman, R.J. (2008) Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): Comparison with alzheimer’s disease. American Journal of Medical Genetics: Neuropsychiatric Genetics, 147B, 1138-1144.
  4. Aguilar, D.C., Sigford, K.,Soontarapornchai, K., Nguyen, D.V., Adams, P.E., Yuhas, J., Hagerman, P.J. and Hagerman, R.J. (2008) A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS. American Journal of Medical Genetics, 146A, 629-635.
  5. Coffey, S.M., Cook, K., Tartaglia, N., Tassone, F., Nguyen, D.V., Pan, R., Bronksy, H.E., Yuhas, J., Borodyanskaya, M., Grigsby, J., Doerflinger, M., Hagerman, P.J. and Hagerman, R.J. (2008) Expanded clinical phenotype of women with the FMR1 American Journal of Medical Genetics, 146A, 1009-1016.
  6. Senturk, D., Nguyen, D.V., Tassone, F., Hagerman, R.J., Carroll, R.J. Hagerman, P.J (2009) Covariate adjusted correlation analysis with application to FMR1 premutation female carrier data. Biometrics, 65, 781-792.
  7. Hessl, D., Nguyen, D. V., Green, C., Chavez, A., Tassone, F., Hagerman, R. J., Senturk, D., Schneider, A., Reiss, A. L., Lightbody, A. and Hall, S. (2009) A solution to limitations of intelligence testing in children with developmental disabilities: The case of fragile X syndrome. Journal of Neurodevelopmental Disorders, 1, 33-45.
  8. Iwahashi, C., Tassone, F., Hagerman, R.J., Yasui, D., Parrott, G., Nguyen, D.V., Mayeur, G., Hagerman, P.J. (2009) A quantitative ELISA assay for the fragile X mental retardation 1 protein. Journal of Molecular Diagnostics, 11, 281-289.
  9. Berry-Kravis, E., Hessl, D., Coffey, S., Hervey, C., Schneider, A., Yuhas, J., Hutchinson, J., Snape, M., Tranfaglia, M., Nguyen, D.V. and Hagerman, R.J. (2009) A pilot open-label single-dose trial of fenobam in adults with fragile X syndrome. Journal of Medical Genetics, 46, 266-271.
  10. Ashwood, P., Nguyen, D.V., Hessl, D., Hagerman, R.J. and Tassone, F. (2010) Plasma cytokine profiles in fragile X subjects: Is there a role for cytokines in the pathogenesis? Brain, Behavior and Immunity, 24, 898-902.
  11. Chonchaiya, W., Nguyen, D.V., Au, J., Campos, L., Lohse, K., Mu, Y., Utari, A., Wang, L., Berry-Kravis, E.M., Hervey, C., Sorensen, P., Cook, K., Tassone, F., Hagerman, R.J. (2010) Clinical involvements of daughters of men with fragile X-associated tremor ataxia syndrome. Clinical Genetics, 78, 38-46.
  12. Garcia-Arocena, D., Yang, J.E., Brouwer, J., Tassone, F., Iwahashi, C., Berry-Kravis, E.M., Goetz, C.G., Sumis, A.M., Zhou, L., Nguyen, D.V., Campos, L., Ludwig, A., Raske, C., Leehey, M., Greco, C., Willemsen, R., Hagerman, R.J., Hagerman, P.J. (2010) Fibroblast phenotype in male carriers of the FMR1 premutation alleles. Human Molecular Genetics, 15, 299-312.
  13. Utari, A., Chonchaiya, W., Rivera, S.M., Schneider, A., Faradz, S., Ethell, I.M., Nguyen, D.V. and Hagerman, R.J. (2010) Side effects of minocyline treatment in patients with fragile X syndrome and exploration of outcome measures. American Journal on Intellectual and Developmental Disabilities, 115, 433-443.
  14. Ortigas MC, Bourgeois JA, Schneider A, Olichney J, Nguyen DV, Cogswell JB, Hall DA, Hagerman RJ. (2010) Improving fragile X-associated tremor/ataxia syndrome symptoms with memantine and venlafaxine. Journal of Clinical Psychopharmacology, 30, 642-644.
  15. Adams, P.E., Adams, J.S., Nguyen, D.V., Hessl, D., Brunberg, J.A., Tassone, F., Zhang, W., Koldewyn, K., Rivera, S., Grigsby, J., Zhang, L., DeCarli, C., Hagerman, P.J., Hagerman, R.J. (2010) Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers, American Journal of Medical Genetics, 153B, 775-785.
  16. Paul, R., Pessah, I.N., Gane, L., Ono, M., Hagerman, P.J., Brunberg, J.A., Tassone, F., Bourgeois, J.A., Adams, P.E., Nguyen, D.V., Hagerman, R.J. (2010) Early onset of neurological symptoms in fragile X carriers exposed to neurotoxins. Neurotoxicology, 31, 399-402.
  17. Chonchaiya, W., Tassone, F., Ashwood, P., Hessl, D., Schneider, A., Campos, L., Nguyen, D.V. and Hagerman, R.J. (2010) Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome. Human Genetics, 128, 539-548.
  18. Hamlin, A., Lui, Y., Nguyen, D.V., Tassone, F., Zhang, L., Hagerman, R.J. (2011) Sleep apnea in premutation carriers with and without FXTAS. American Journal of Medical Genetics: Neuropsychiatric Genetics, 156, 923-928.
  19. Bourgeois, J.A., Seritan, A., Casillas, E.M., Hessl, D., Schneider, A., Yang, Y., Kaur, I., Cogswell, J.B., Nguyen, D.V. and Hagerman, R.J. (2011) Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers. Journal of Clinical Psychiatry, 72, 175-182.
  20. Narcisa, V., Aguilar, D., Nguyen, D.V., Campos, L., Brodovsky, J., White, S., Adams, P., Tassone, F., Hagerman, P.J. and Hagerman, R.J. (2011) A quantitative assessment of tremor and ataxia in female FMR1 premutation carriers using CATSYS. Current Gerontology and Geriatrics Research, vol 2011, Article 484713, 1-7.
  21. Berry-Kravis E, Hessl D, Rathmell B, Zarevics P, Cherubini M, Walton-Bowen K, Mu Y, Nguyen DV, Gonzales-Heydrich I, Wang P, Carpenter R, Bear M, Hagerman RJ (2012) Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: A randomized, controlled, Phase 2 trial. Science Translational Medicine, 4, 152:127.
  22. Winarni TI, Chonchaiya W, Au J, Adams E, Mu Y, Nguyen DV, Hagerman RJ (2012) Sertraline May Improve Language Developmental Trajectory in Young Children with Fragile X Syndrome: A Retrospective Chart Review. Autism Research and Treatment, 2012:104317, 8 pages.
  23. Winarni, TI, Chonchaiya, W, Sumekar TA, Ashwood PA, Morales, G.M., Tassone F, Nguyen DV, Faradz SMH, Vandewater J, Hagerman PJ, Hagerman RJ (2012) Immune-mediated disorders among female carriers of fragile X premutation alleles. American Journal of Medical Genetics, 158A, 2473-2481.
  24. Hamlin A, Sukharev D, Campos L, Mu Y, Tassone F, Hessl D, Nguyen DV, Loesch D, Hagerman RJ (2012) Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS). American Journal of Medical Genetics, 158A, 1304-1309.
  25. Hoeffer, C., Sanchez, E., Hagerman, R.J., Mu, Y., Nguyen, D.V., Wong, H., Whelen, A.M., Zukin, S., Klann, E., Tassone, F. (2012) Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome. Gene, Brain and Behavior, 11, 332-341.
  26. Chonchaiya, W., Au, J., Schneider, A., Hessl, D., Harris, S., Laird, M., Nguyen, D.V., Mu, Y., and Tassone, F., Hagerman, R.J. (2012) Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Human Genetics, 131, 581-589.
  27. Tassone F, Iong KP, Tong T, Lo J, Gane LW, Berry-Kravis E, Skinner D, Bailey D, Nguyen DV, Mu Y, Laffin J, Bailey D, Hagerman RJ, Tong T-H (2012) FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Medicine, 4, 100 (p.1-13).
  28. Seritan AL, Bourgeois JA, Schneider A, Mu Y, Hagerman RJ, Nguyen DV (2013) Age of onset of mood and anxiety disorders in fragile X premutation carriers with and without FXTAS. Current Psychiatry Review, 9, 65-71.
  29. Au, J., Akins, R.S., Berkowitz-Sutherland, L., Tang, H.-T., Chen, Y., Boyd, A., Tassone, F., Nguyen, D.V., Hagerman, R.J. (2013) Prevalence and risk of migraine headaches in adult fragile X premutation carriers. Clinical Genetics, 84, 546-551.
  30. Leigh MJ, Nguyen DV, Mu Y, Winarni TI, Hessl DR, Rivera SM, Chechi T, Polussa J, Tassone F, Hagerman RJ (2013) A randomized double blind, placebo controlled trial of minocycline in children and adolescents with fragile X syndrome. Journal of Developmental and Behavioral Pediatrics, 34, 147-155.
  31. Summers SM, Cogswell J, Goodrich J, Mu Y, Nguyen DV, Brass SD, Hagerman RJ (2014) Prevalence of restless leg syndrome and sleep quality in carriers of the fragile X premutation. Clinical Genetics, 86(2), 181-184.
  32. Summers SM, Cogswell J, Goodrich J, Mu Y, Nguyen DV, Brass SD, Hagerman RJ (2014) Fatigue and body mass index in the fragile X premutation carrier. Fatigue: Biomedicine, Health and Behavior, 2:2, 64-72.
  33. Lozano R, Summers SD, Lozano C, Nguyen DV, Mu Y, Hessl D, Tassone F, Hagerman RJ (2014) Association between macroorchidism and intelligence in FMR1 premutation carriers. American Journal of Medical Genetics, 164A(9):2206-1221.
  34. Seritan AL, Nguyen DV, Mu Y, Tassone F, Bourgeois JA, Schneider A, Cogswell J, Cook K, Leehey M, Grigsby J, Olichney JM, Adams P, Legg W, Zhang L, Hagerman PJ, Hagerman RJ (2014) Memantine for fragile X-associated tremor/ataxia syndrome (FXTAS): A randomized, double-blind, placebo-control trial. Journal of Clinical Psychiatry, 75, 264-271.
  35. Hess LG, Fitzpatrick SE, Nguyen DV, Chen Y, Gaul K, Schneider A, Chitwood KL, Eldeeb M, Siyahian S, Polussa J, Hessl D, Hagerman RJ (2016) A randomized double-blind, placebo-controlled trial of sertraline in young children with fragile X syndrome. Journal of Developmental & Behavioral Pediatrics, 37(8):619-28.
  36. Ligsay A, Dijck AV, Nguyen DV, Lozano R, Chen Y, Bickel E, Hessl DR, Schneider A, Angkustsiri K, Tassone F, Kooy RF, Hagerman RJ (2017) A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome. Journal of Neurodevelopmental Disorders, 9(1):26.
  37. Sumekar TA, Winarni TI, Mu Y, Chonchaiya W, Tassone F, Iwashi C, Cheung K, Faradz SMH, Hagerman PJ, Nguyen DV, Hagerman RJ (2018) Autism phenotype in fragile X permutation males is not associated with FMR1 expression: a preliminary evaluation. Hiroshima Journal of Medical Sciences, 67, 166-173.
  38. Hessl D, Schweitzer J, Nguyen DV, McLennan YA, Johnston C, Shickman R, Chen Y (2019) Cognitive training for children and adolescents with fragile X syndrome: A randomized controlled trial of Cogmed. Journal of Neurodevelopmental Disorders, 11(1):4, 1-14.
  39. Potter LA, Scholze DA, Biag H, Schneider A, Chen Y, Nguyen DV, Rajaratnam A, Rivera SM, Dwyer PS, Tassone F, Choudhary NS, Salcedo-Arellano JM, Hagerman RJ (2019) A randomized controlled trial of sertraline in young children with autism spectrum disorder. Frontiers in Psychiatry, 10:810.