检索结果 - Subramony, SH

Delayed diagnosis of DOK7 congenital myasthenic syndrome: Case report and literature review 由 Johnson, Amber, Subramony, S.H., Chuquilin, Miguel

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Generation of human induced pluripotent stem cells to model spinocerebellar ataxia type 2 in vitro 由 Xia, Guangbin, Santostefano, Katherine, Hamazaki, Takashi, Liu, Jilin, Subramony, SH, Terada, Naohiro, Ashizawa, Tetsuo

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SPG7 and Impaired Emotional Communication 由 Zhang, Linwei, McFarland, Karen N., Subramony, S.H., Heilman, Kenneth M., Ashizawa, Tetsuo

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Role of tissue transglutaminase type 2 in calbindin-D28k interaction with ataxin-1 由 Vig, P.J.S., Wei, J., Shao, Q., Hebert, M.D., Subramony, S.H., Sutton, L.T.

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Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich’s ataxia 由 Grant, LaKechia, Sun, Jun, Xu, Hongzhi, Subramony, S.H., Chaires, Jonathan B., Hebert, Michael D.

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Tissue transglutaminase crosslinks ataxin-1: Possible role in SCA1 pathogenesis 由 D’Souza, D.R., Wei, J., Shao, Q., Hebert, M.D., Subramony, S.H., Vig, P.J.S.

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Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13 由 Subramony, SH, Advincula, Joel, Perlman, Susan, Rosales, Raymond L., Lee, Lillian V., Ashizawa, Tetsuo, Waters, Michael F.

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Temporal Invariance in SCA6 Is Related to Smaller Cerebellar Lobule VI and Greater Disease Severity 由 Yacoubi, Basma, Casamento-Moran, Agostina, Burciu, Roxana G., Subramony, S.H., Vaillancourt, David E., Christou, Evangelos A.

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Generation of Neural Cells from DM1 Induced Pluripotent Stem Cells As Cellular Model for the Study of Central Nervous System Neuropathogenesis 由 Xia, Guangbin, Santostefano, Katherine E., Goodwin, Marianne, Liu, Jilin, Subramony, S.H., Swanson, Maurice S., Terada, Naohiro, Ashizawa, Tetsuo

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Genome Modification Leads to Phenotype Reversal in Human Myotonic Dystrophy type 1 iPS-cell Derived Neural Stem Cells 由 Xia, Guangbin, Gao, Yuanzheng, Jin, Shouguang, Subramony, SH., Terada, Naohiro, Ranum, Laura P.W., Swanson, Maurice S., Ashizawa, Tetsuo

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Glial S100B Positive Vacuoles In Purkinje Cells: Earliest Morphological Abnormality In SCA1 Transgenic Mice 由 VIG, Parminder J.S., LOPEZ, Maripar E., WEI, Jinrong, D’SOUZA, David R., SUBRAMONY, SH, HENEGAR, Jeffrey, FRATKIN, Jonathan D.

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Altered Activation of the Tibialis Anterior in Individuals with Pompe Disease: Implications for Motor Unit Dysfunction 由 Corti, Manuela, Smith, Barbara K, Falk, Darin J, Lawson, Lee Ann, Fuller, David D, Subramony, S.H., Byrne, Barry J, Christou, Evangelos A

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Long-term Safety of Dichloroacetate in Congenital Lactic Acidosis 由 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.

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Longitudinal analysis of contrast acuity in Friedreich ataxia 由 Hamedani, Ali G., Hauser, Lauren A., Perlman, Susan, Mathews, Katherine, Wilmot, George R., Zesiewicz, Theresa, Subramony, S.H., Ashizawa, Tetsuo, Delatycki, Martin B., Brocht, Alicia, Lynch, David R.

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

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Psychometric properties of the Friedreich Ataxia Rating Scale 由 Rummey, Christian, Corben, Louise A., Delatycki, Martin B., Subramony, S.H., Bushara, Khalaf, Gomez, Christopher M., Hoyle, Joseph Chad, Yoon, Grace, Ravina, Bernard, Mathews, Katherine D., Wilmot, George, Zesiewicz, Theresa, Perlman, Susan, Farmer, Jennifer M., Lynch, David R.

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C9orf72 Repeat Expansions as Genetic Modifiers for Depression in Spinocerebellar Ataxias 由 Figueroa, Karla P, Gan, Shi-Rui, Perlman, Susan, Wilmot, George, Gomez, Christopher M, Schmahmann, Jeremy, Paulson, Henry, Shakkottai, Vikram G, Ying, Sarah H, Zesiewicz, Theresa, Bushara, Khalaf, Geschwind, Michael, Xia, Guangbin, Subramony, SH, Ashizawa, Tetsuo, Pulst, Stefan M, Kuo, Sheng-Han

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Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor 由 Lai, Ruo-Yah, Tomishon, Darya, Figueroa, Karla P, Pulst, Stefan M, Perlman, Susan, Wilmot, George, Gomez, Christopher M, Schmahmann, Jeremy, Paulson, Henry, Shakkottai, Vikram G, Ying, Sarah H, Zesiewicz, Theresa, Bushara, Khalaf, Geschwind, Michael, Xia, Guangbin, Subramony, SH, Ashizawa, Tetsuo, Kuo, Sheng-Han

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Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants 由 Regner, Sean R., Wilcox, Nicholas, Friedman, Lisa S., Seyer, Lauren, Schadt, Kim, Brigatti, Karlla W., Perlman, Susan, Delatycki, Martin, Wilmot, George R., Gomez, Christopher M., Bushara, Khalaf O., Mathews, Katherine D., Subramony, S.H., Ashizawa, Tetsuo, Ravina, Bernard, Brocht, Alicia, Farmer, Jennifer M., Lynch, David R.

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Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee o... 由 Zesiewicz, Theresa A., Wilmot, George, Kuo, Sheng-Han, Perlman, Susan, Greenstein, Patricia E., Ying, Sarah H., Ashizawa, Tetsuo, Subramony, S.H., Schmahmann, Jeremy D., Figueroa, K.P., Mizusawa, Hidehiro, Schöls, Ludger, Shaw, Jessica D., Dubinsky, Richard M., Armstrong, Melissa J., Gronseth, Gary S., Sullivan, Kelly L.

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