CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity
Perez, Barbara A, Shorrock, Hannah K, Banez‐Coronel, Monica, Zu, Tao, Romano, Lisa EL, Laboissonniere, Lauren A, Reid, Tammy, Ikeda, Yoshio, Reddy, Kaalak, Gomez, Christopher M, Bird, Thomas, Ashizawa, Tetsuo, Schut, Lawrence J, Brusco, Alfredo, Berglund, J Andrew, Hasholt, Lis F, Nielsen, Jorgen E, Subramony, SH, Ranum, Laura PW
Published in EMBO molecular medicine (08.11.2021)
Published in EMBO molecular medicine (08.11.2021)
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Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed‐Start Analysis of the MOXIe Extension
Lynch, David R., Chin, Melanie P., Boesch, Sylvia, Delatycki, Martin B., Giunti, Paola, Goldsberry, Angie, Hoyle, J. Chad, Mariotti, Caterina, Mathews, Katherine D., Nachbauer, Wolfgang, O'Grady, Megan, Perlman, Susan, Subramony, S.H., Wilmot, George, Zesiewicz, Theresa, Meyer, Colin J.
Published in Movement disorders (01.02.2023)
Published in Movement disorders (01.02.2023)
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Journal Article
SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F
Ayhan, Fatma, Perez, Barbara A, Shorrock, Hannah K, Zu, Tao, Banez‐Coronel, Monica, Reid, Tammy, Furuya, Hirokazu, Clark, H Brent, Troncoso, Juan C, Ross, Christopher A, Subramony, SH, Ashizawa, Tetsuo, Wang, Eric T, Yachnis, Anthony T, Ranum, Laura PW
Published in The EMBO journal (01.10.2018)
Published in The EMBO journal (01.10.2018)
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Journal Article
Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus
Subramony, S H, Fratkin, J D, Manyam, B V, Currier, R D
Published in Movement disorders (01.03.1996)
Published in Movement disorders (01.03.1996)
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Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
Subramony, S H, May, W, Lynch, D, Gomez, C, Fischbeck, K, Hallett, M, Taylor, P, Wilson, R, Ashizawa, T
Published in Neurology (12.04.2005)
Published in Neurology (12.04.2005)
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Journal Article
Temporal Invariance in SCA6 Is Related to Smaller Cerebellar Lobule VI and Greater Disease Severity
Yacoubi, Basma, Casamento-Moran, Agostina, Burciu, Roxana G, Subramony, S H, Vaillancourt, David E, Christou, Evangelos A
Published in The Journal of neuroscience (19.02.2020)
Published in The Journal of neuroscience (19.02.2020)
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Journal Article
Identification of a new form of autosomal dominant spastic paraplegia
Subramony, SH, Nguyen, TV, Langford, L, Lin, X, Parent, AD, Zhang, J
Published in Clinical genetics (01.07.2009)
Published in Clinical genetics (01.07.2009)
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Journal Article
Depression and clinical progression in spinocerebellar ataxias
Lo, Raymond Y, Figueroa, Karla P, Pulst, Stefan M, Perlman, Susan, Wilmot, George, Gomez, Christopher, Schmahmann, Jeremy, Paulson, Henry, Shakkottai, Vikram G, Ying, Sarah, Zesiewicz, Theresa, Bushara, Khalaf, Geschwind, Michael, Xia, Guangbin, Yu, Jui-Tsen, Lee, Lue-En, Ashizawa, Tetsuo, Subramony, S.H, Kuo, Sheng-Han
Published in Parkinsonism & related disorders (01.01.2016)
Published in Parkinsonism & related disorders (01.01.2016)
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Journal Article
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN
Hogarth, Penelope, Gregory, Allison, Kruer, Michael C, Sanford, Lynn, Wagoner, Wendy, Natowicz, Marvin R, Egel, Robert T, Subramony, S H, Goldman, Jennifer G, Berry-Kravis, Elizabeth, Foulds, Nicola C, Hammans, Simon R, Desguerre, Isabelle, Rodriguez, Diana, Wilson, Callum, Diedrich, Andrea, Green, Sarah, Tran, Huong, Reese, Lindsay, Woltjer, Randall L, Hayflick, Susan J
Published in Neurology (15.01.2013)
Published in Neurology (15.01.2013)
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Journal Article
Genome Modification Leads to Phenotype Reversal in Human Myotonic Dystrophy Type 1 Induced Pluripotent Stem Cell‐Derived Neural Stem Cells
Xia, Guangbin, Gao, Yuanzheng, Jin, Shouguang, Subramony, S.H., Terada, Naohiro, Ranum, Laura P.W., Swanson, Maurice S., Ashizawa, Tetsuo
Published in Stem cells (Dayton, Ohio) (01.06.2015)
Published in Stem cells (Dayton, Ohio) (01.06.2015)
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Journal Article
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study
Ashizawa, Tetsuo, Figueroa, Karla P, Perlman, Susan L, Gomez, Christopher M, Wilmot, George R, Schmahmann, Jeremy D, Ying, Sarah H, Zesiewicz, Theresa A, Paulson, Henry L, Shakkottai, Vikram G, Bushara, Khalaf O, Kuo, Sheng-Han, Geschwind, Michael D, Xia, Guangbin, Mazzoni, Pietro, Krischer, Jeffrey P, Cuthbertson, David, Holbert, Amy Roberts, Ferguson, John H, Pulst, Stefan M, Subramony, S H
Published in Orphanet journal of rare diseases (13.11.2013)
Published in Orphanet journal of rare diseases (13.11.2013)
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Journal Article
Long-term safety of dichloroacetate in congenital lactic acidosis
Abdelmalak, Monica, Lew, Alicia, Ramezani, Ryan, Shroads, Albert L., Coats, Bonnie S., Langaee, Taimour, Shankar, Meena N., Neiberger, Richard E., Subramony, S.H., Stacpoole, Peter W.
Published in Molecular genetics and metabolism (01.06.2013)
Published in Molecular genetics and metabolism (01.06.2013)
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Journal Article
The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3
Gan, Shi-Rui, Figueroa, Karla P., Xu, Hao-Ling, Perlman, Susan, Wilmot, George, Gomez, Christopher M., Schmahmann, Jeremy, Paulson, Henry, Shakkottai, Vikram G., Ying, Sarah H., Zesiewicz, Theresa, Bushara, Khalaf, Geschwind, Michael D., Xia, Guangbin, Subramony, S.H., Rosenthal, Liana, Ashizawa, Tetsuo, Pulst, Stefan M., Wang, Ning, Kuo, Sheng-Han
Published in Parkinsonism & related disorders (01.03.2020)
Published in Parkinsonism & related disorders (01.03.2020)
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Journal Article
Coenzyme Q10 and spinocerebellar ataxias
Lo, Raymond Y., Figueroa, Karla P., Pulst, Stefan M., Lin, Chi-Ying, Perlman, Susan, Wilmot, George, Gomez, Christopher, Schmahmann, Jeremy, Paulson, Henry, Shakkottai, Vikram G., Ying, Sarah, Zesiewicz, Theresa, Bushara, Khalaf, Geschwind, Michael, Xia, Guangbin, Subramony, S.H., Ashizawa, Tetsuo, Kuo, Sheng-Han
Published in Movement disorders (01.02.2015)
Published in Movement disorders (01.02.2015)
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Journal Article
Generation of Human-Induced Pluripotent Stem Cells to Model Spinocerebellar Ataxia Type 2 In vitro
Xia, Guangbin, Santostefano, Katherine, Hamazaki, Takashi, Liu, Jilin, Subramony, S. H., Terada, Naohiro, Ashizawa, Tetsuo
Published in Journal of molecular neuroscience (01.10.2013)
Published in Journal of molecular neuroscience (01.10.2013)
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Journal Article
SCA 8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF 3F
Ayhan, Fatma, Perez, Barbara A, Shorrock, Hannah K, Zu, Tao, Banez‐Coronel, Monica, Reid, Tammy, Furuya, Hirokazu, Clark, H Brent, Troncoso, Juan C, Ross, Christopher A, Subramony, SH, Ashizawa, Tetsuo, Wang, Eric T, Yachnis, Anthony T, Ranum, Laura PW
Published in The EMBO journal (01.10.2018)
Published in The EMBO journal (01.10.2018)
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Journal Article
Genome Modification Leads to Phenotype Reversal in Human Myotonic Dystrophy type 1 iPS-cell Derived Neural Stem Cells
Xia, Guangbin, Gao, Yuanzheng, Jin, Shouguang, Subramony, SH, Terada, Naohiro, Ranum, Laura P.W., Swanson, Maurice S., Ashizawa, Tetsuo
Published in Stem cells (Dayton, Ohio) (01.06.2015)
Published in Stem cells (Dayton, Ohio) (01.06.2015)
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Journal Article
Analysis of the visual system in Friedreich ataxia
Seyer, Lauren A., Galetta, Kristin, Wilson, James, Sakai, Reiko, Perlman, Susan, Mathews, Katherine, Wilmot, George R., Gomez, Christopher M., Ravina, Bernard, Zesiewicz, Theresa, Bushara, Khalaf O., Subramony, S. H., Ashizawa, Tetsuo, Delatycki, Martin B., Brocht, Alicia, Balcer, Laura J., Lynch, David R.
Published in Journal of neurology (01.09.2013)
Published in Journal of neurology (01.09.2013)
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Journal Article
The Initial Symptom and Motor Progression in Spinocerebellar Ataxias
Luo, Lan, Wang, Jie, Lo, Raymond Y, Figueroa, Karla P, Pulst, Stefan M, Kuo, Pei-Hsin, Perlman, Susan, Wilmot, George, Gomez, Christopher M, Schmahmann, Jeremy D., Paulson, Henry, Shakkottai, Vikram G, Ying, Sarah H, Zesiewicz, Theresa, Bushara, Khalaf, Geschwind, Michael, Xia, Guangbin, Subramony, S H, Ashizawa, Tetsuo, Kuo, Sheng-Han
Published in Cerebellum (London, England) (01.06.2017)
Published in Cerebellum (London, England) (01.06.2017)
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