Fingerprint The Fingerprint is created by mining the titles and abstracts of the person's research outputs and projects/funding awards to create an index of weighted terms from discipline-specific thesauri.

  • 4 Similar Profiles
Spinocerebellar Ataxias Medicine & Life Sciences
Purkinje Cells Medicine & Life Sciences
Neurodegenerative Diseases Medicine & Life Sciences
Transgenic Mice Medicine & Life Sciences
Genes Medicine & Life Sciences
HLA-A Antigens Medicine & Life Sciences
Ataxia Medicine & Life Sciences
MHC Class I Genes Medicine & Life Sciences

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Projects 1996 2023

Spinocerebellar Ataxias
Molecular Biology
Cerebellar Ataxia
Spinocerebellar Ataxias
Spinocerebellar Ataxias
Therapeutics

Research Output 1972 2018

ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism

Rousseaux, M. W. C. , Tschumperlin, T. , Lu, H. C. , Lackey, E. P. , Bondar, V. V. , Wan, Y. W. , Tan, Q. , Adamski, C. J. , Friedrich, J. , Twaroski, K. , Chen, W. , Tolar, J. , Henzler, C. , Sharma, A. , Bajić, A. , Lin, T. , Duvick, L. , Liu, Z. , Sillitoe, R. V. , Zoghbi, H. Y. & 1 others Orr, H. T. Jan 1 2018 (Accepted/In press) In : Neuron.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Ataxia
Cerebellum
Pathology
Neurons

Spinocerebellar ataxia type 1: Molecular mechanisms of neurodegeneration and preclinical studies

Pérez Ortiz, J. M. & Orr, H. T. Jan 1 2018 Advances in Experimental Medicine and Biology. Springer New York LLC, Vol. 1049, p. 135-145 11 p. (Advances in Experimental Medicine and Biology; vol. 1049)

Research output: Chapter in Book/Report/Conference proceedingChapter

Spinocerebellar Ataxias
Phosphorylation
Purkinje Cells
Proteins
RNA Splicing
10 Citations

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Lu, H. C. , Tan, Q. , Rousseaux, M. W. C. , Wang, W. , Kim, J. Y. , Richman, R. , Wan, Y. W. , Yeh, S. Y. , Patel, J. M. , Liu, X. , Lin, T. , Lee, Y. , Fryer, J. D. , Han, J. , Chahrour, M. , Finnell, R. H. , Lei, Y. , Zurita-Jimenez, M. E. , Ahimaz, P. , Anyane-Yeboa, K. & 17 others Van Maldergem, L., Lehalle, D., Jean-Marcais, N., Mosca-Boidron, A. L., Thevenon, J., Cousin, M. A., Bro, D. E., Lanpher, B. C., Klee, E. W., Alexander, N., Bainbridge, M. N., Orr, H. T., Sillitoe, R. V., Ljungberg, M. C., Liu, Z., Schaaf, C. P. & Zoghbi, H. Y. Mar 30 2017 In : Nature Genetics. 49, 4, p. 527-536 10 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
Middle Hypothalamus
Attention Deficit Disorder with Hyperactivity
Interpersonal Relations
8 Citations

Polyglutamine spinocerebellar ataxias-from genes to potential treatments

Paulson, H. L., Shakkottai, V. G., Clark, H. B. & Orr, H. T. Sep 19 2017 In : Nature Reviews Neuroscience. 18, 10, p. 613-626 14 p.

Research output: Contribution to journalReview article

Spinocerebellar Ataxias
Genes
Neurodegenerative Diseases
Glutamine
polyglutamine
4 Citations

Visualizing and mapping the cerebellum with serial optical coherence scanner

Liu, C. J., Williams, K. E., Orr, H. T. & Akkin, T. Jan 1 2017 In : Neurophotonics. 4, 1, 011006

Research output: Contribution to journalArticle

Cerebellum
Brain Stem
Optical Coherence Tomography
Immersion
Nerve Fibers