Ataxia Center Selected Publications

Brown CA, Scharner J, Felice K, Meriggioli MN, Tarnopolsky M, Bower M, Zammit PS, Mendell JR, Ellis JA. Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. J Hum Genet. 2011 Jun 23. doi: 10.1038/jhg.2011.65. [Epub ahead of print]

Wu X, Ashe J, Bushara KO. Role of olivocerebellar system in timing without awareness. Proc Natl Acad Sci U S A 2011.

Bower MA, Bushara K, Dempsey MA, Das S, Tuite PJ. Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN). Mov Disord 2011.

Öz G, Iltis I, Hutter D, Thomas W, Bushara KO, Gomez CM. Distinct neurochemical profiles of spinocerebellar ataxias 1, 2, 6, and cerebellar multiple system atrophy. Cerebellum 2011;10:208-17.

Scharner J, Brown CA, Bower M, et al. Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. Hum Mutat 2011;32:152-67.

Öz G, Hutter D, Tkác I, Clark HB, Gross MD, Jiang H, Eberly LE, Bushara KO, Gomez CM. Neurochemical Alterations in Spinocerebellar Ataxia Type 1 and their Correlations with Clinical Status. Mov Disord, 25:1253-1261, 2010.

Öz G, Nelson CD, Koski DM, Henry PG, Marjanska M, Deelchand DK, Shanley R, Eberly LE, Orr HT, Clark HB. Noninvasive Detection of Pre-symptomatic and Progressive Neurodegeneration in a Mouse Model of Spinocerebellar Ataxia type 1. J Neurosci, 30:3831-3838, 2010.

Iltis I, Hutter D, Bushara KO, Clark HB, Gross MD, Eberly LE, Gomez CM, Öz G. 1H MR Spectroscopy in Friedreich’s Ataxia and Ataxia with Oculomotor Apraxia Type 2. Brain Res, doi: 10.1016/j.brainres.2010.08.030, 2010.

Öz G, Iltis I, Hutter D, Thomas W, Bushara KO, Gomez CM. Distinct Neurochemical Profiles of Spinocerebellar Ataxias 1, 2, 6 and Cerebellar Multiple System Atrophy. Cerebellum, 2010.

Wu X, Nestrasil I, Tuite P, Ashe J, Bushara KO. Inferior Olive Response to Passive Tactile and Visual Stimulation with Variable Inter-Stimulus Intervals. Cerebellum, 2010.

Liu T, Xu D, Ashe J, Bushara KO. Specificity of inferior olive activation to stimulus timing. Journal of Neurophysiology 2008;100(3):1557-61.

Thyagarajan B, Bower M, Berger M, Jones S, Dolan, M, Wang, X. A novel polymorphism in the FMR1 gene: implications for clinical testing for fragile X syndrome. Archives of Pathology and Laboratory Medicine 2008; 132(1): 95-8.

Xu D, Liu T, Ashe J, Bushara KO. Role of the olivo-cerebellar system in timing. J Neurosci 2006;26(22):5990-5995.

Chao MM, LeVine J, Ruiz R, Kohlmann W, Bower MA, Petty E, Mody R. Malignant Triton Tumor in a Patient with Li-Fraumeni Syndrome and a Novel TP53 Mutation. Pediatric Blood and Cancer 2005 epublished [Dec 6].

Bushara KO, Malik T, Exconde RE. The effect of levetiracetam on essential tremor. Neurology 2005;64(6):1078-1080.

Tuite PJ, Clark B, Bergeron C, Bower M, St George Hyslop P, Mateva V, Anderson J, Knopman DS. Clinical and Pathologic Evidence of Corticobasal Degeneration and Progressive Supranuclear Palsy in Familial Tauopathy. Archives of Neurology 2005;62; 1453-1457.

Muley SA, Bushara KO. Isolated gait ataxia due to cerebellar vermis infarct. Arch Neurol 2004;61(9):1461.

Bushara KO, Goldstein SR, Grimes GJ, Jr., Burstein AH, Hallett M. Pilot trial of 1-octanol in essential tremor. Neurology 2004;62(1):122-124.

Bushara KO, Nance M, Gomez CM. Antigliadin antibodies in Huntington's disease. Neurology 2004;62(1):132-133.

Bushara KO, Hanakawa T, Immisch I, Toma K, Kansaku K, Hallett M. Neural correlates of cross-modal binding. Nature Neurosci 2003;6(2):190-195.

Reich LM, Bower M, Key NS. Role of the Geneticist in Testing and Counseling for Inherited Thrombophilia. Genetics in Medicine 2003; 5(3): 133-143.

Bower MA, McCarthy Veach P, Bartels DM, LeRoy BS. A Survey of Genetic Counselors’ Strategies for Addressing Ethical and Professional Challenges in Practice. Journal of Genetic Counseling 2002;11:163-186.

Bushara KO, Grafman J, Hallett M. Neural correlates of auditory-visual stimulus onset asynchrony detection. J Neurosci 2001;21(1):300-304.

Bushara KO, Goebel SU, Shill H, Goldfarb LG, Hallett M. Gluten sensitivity in sporadic and hereditary cerebellar ataxia. Ann Neurol 2001;49(4):540-543.

Bushara KO, Wheat JM, Khan A, Mock BJ, Turski PA, Sorenson J, Brooks BR. Multiple tactile maps in the human cerebellum. Neuroreport 2001;12(11):2483-2486.

Bushara KO, Weeks RA, Ishii K, Catalan MJ, Tian B, Rauschecker JP, Hallett M. Modality-specific frontal and parietal areas for auditory and visual spatial localization in humans. Nature Neurosci 1999;2(8):759-766.