Search Results - "Subramony, S.H."

Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology by 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

“…OBJECTIVETo systematically review evidence regarding ataxia treatment. METHODSA comprehensive systematic review was performed according to American Academy of…”
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Depression and clinical progression in spinocerebellar ataxias by 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

“…Abstract Background Depression is a common comorbidity in spinocerebellar ataxias (SCAs) but its association with ataxia progression is not well understood…”
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Genome Modification Leads to Phenotype Reversal in Human Myotonic Dystrophy Type 1 Induced Pluripotent Stem Cell‐Derived Neural Stem Cells by Xia, Guangbin, Gao, Yuanzheng, Jin, Shouguang, Subramony, S.H., Terada, Naohiro, Ranum, Laura P.W., Swanson, Maurice S., Ashizawa, Tetsuo

“…Myotonic dystrophy type 1 (DM1) is caused by expanded CTG repeats in the 3'‐untranslated region (3′ UTR) of the DMPK gene. Correcting the mutation in DM1 stem…”
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Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data by Lynch, David R., Goldsberry, Angie, Rummey, Christian, Farmer, Jennifer, Boesch, Sylvia, Delatycki, Martin B., Giunti, Paola, Hoyle, J. Chad, Mariotti, Caterina, Mathews, Katherine D., Nachbauer, Wolfgang, Perlman, Susan, Subramony, S.H., Wilmot, George, Zesiewicz, Theresa, Weissfeld, Lisa, Meyer, Colin

“…Objective The natural history of Friedreich ataxia is being investigated in a multi‐center longitudinal study designated the Friedreich ataxia Clinical Outcome…”
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Long-term safety of dichloroacetate in congenital lactic acidosis by 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.

“…We followed 8 patients (4 males) with biochemically and/or molecular genetically proven deficiencies of the E1α subunit of the pyruvate dehydrogenase complex…”
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Dystonia and ataxia progression in spinocerebellar ataxias by Kuo, Pei-Hsin, Gan, Shi-Rui, Wang, Jie, Lo, Raymond Y., Figueroa, Karla P., Tomishon, Darya, Pulst, Stefan M., Perlman, Susan, Wilmot, George, Gomez, Christopher M., Schmahmann, Jeremy D., Paulson, Henry, Shakkottai, Vikram G., Ying, Sarah H., Zesiewicz, Theresa, Bushara, Khalaf, Geschwind, Michael D., Xia, Guangbin, Subramony, S.H., Ashizawa, Tetsuo, Kuo, Sheng-Han

“…Dystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated with different rate of ataxia progression is not…”
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Vision related quality of life in spinocerebellar ataxia by Kedar, Sachin, Ghate, Deepta, Murray, Earnest L, Corbett, James J, Subramony, S.H

“…Abstract Objective Spinocerebellar ataxia (SCA) leads to abnormal ocular motility and alignment. The objective of this study was to quantitatively assess…”
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Apraxia in anti-glutamic acid decarboxylase-associated stiff person syndrome: Link to corticobasal degeneration? by Bowen, Lauren N., Subramony, S.H., Heilman, Kenneth M.

“…Corticobasal syndrome (CBS) is associated with asymmetrical rigidity as well as asymmetrical limb‐kinetic and ideomotor apraxia. Stiff person syndrome (SPS) is…”
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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 by Xia, Guangbin, Santostefano, Katherine E, Goodwin, Marianne, Liu, Jilin, Subramony, S H, Swanson, Maurice S, Terada, Naohiro, Ashizawa, Tetsuo

“…Dystrophia myotonica type 1 (DM1) is an autosomal dominant multisystem disorder. The pathogenesis of central nervous system (CNS) involvement is poorly…”
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Objective home-based gait assessment in spinocerebellar ataxia by Subramony, S.H, Kedar, S, Murray, E, Protas, E, Xu, H, Ashizawa, T, Tan, A

“…Abstract We investigated the utility of home-based gait monitor assessment in patients with spinocerebellar ataxia (SCA). Nineteen patients with different…”
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Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3 by Paulson, H.L, Perez, M.K, Trottier, Y, Trojanowski, J.Q, Subramony, S.H, Das, S.S, Vig, P, Mandel, J.-L, Fischbeck, K.H, Pittman, R.N

“…The mechanism of neurodegeneration in CAG/polyglutamine repeat expansion diseases is unknown but is thought to occur at the protein level. Here, in studies of…”
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PO26-TH-23 Wrist drop mimicking radial nerve palsy in myasthenia gravis by Wee, A.S, Subramony, S.H

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International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome by TROUILLAS, P, TAKAYANAGI, T, COUTINHO, P, HAMIDA, M. B, CAMPANELLA, G, FILLA, A, SCHUT, L, TIMANN, D, HONNORAT, J, NIGHOGHOSSIAN, N, MANYAM, B, HALLETT, M, CURRIER, R. D, SUBRAMONY, S. H, WESSEL, K, BRYER, A, DIENER, H. C, MASSAQUOI, S, GOMEZ, C. M

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Health related quality of life measures in Friedreich Ataxia by Epstein, Elizabeth, Farmer, Jennifer M, Tsou, Amy, Perlman, Susan, Subramony, S.H, Gomez, Christopher M, Ashizawa, Tetsuo, Wilmot, George R, Mathews, Katherine, Wilson, Robert B, Balcer, Laura J, Lynch, David R

“…Abstract Evaluation of therapeutic agents for Friedreich Ataxia (FA) has been limited by a lack of adequate markers of disease progression. We assessed the…”
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Differential effects of polyglutamine proteins on nuclear organization and artificial reporter splicing by Sun, June, Xu, Hongzhi, Negi, Sandeep, Subramony, S.H., Hebert, Michael D.

“…Nuclear inclusions formed by proteins with expanded polyglutamine tracts are found in several neurodegenerative diseases. The effect of nuclear inclusions…”
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A novel X-linked gene, DDP , shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness by Jin, Hong, May, Melanie, Tranebjærg, Lisbeth, Kendall, Elaine, Fontán, Gumersindo, Jackson, John, Subramony, S.H, Arena, Fernando, Lubs, Herbert, Smith, Stephanie, Stevenson, Roger, Schwartz, Charles, Vetrie, David

“…In 1960, progressive sensorineural deafness (McKusick 304,700, DFN-1) was shown to be X-linked based on a description of a large Norwegian pedigree. More…”
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Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians by Subramony, S.H., Hernandez, Dena, Adam, Amanda, Smith-Jefferson, Stephanie, Hussey, Jennifer, Gwinn-Hardy, Katrina, Lynch, Timothy, McDaniel, Olga, Hardy, John, Farrer, Matt, Singleton, Andrew

“…We describe several families of African origin with SCA3/Machado‐Joseph disease gene expansions. In these cases, the phenotype ranges from ataxia with…”
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Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1 by Chong, Samuel S, McCall, Alanna E, Cota, Juan, Subramony, S.H, Orr, Harry T, Hughes, Mark R, Zoghbi, Huda Y

“…Spinocerebellar ataxia type 1 is associated with expansion of an unstable CAG repeat within the SCA1 gene. Male gametic heterogeneity of the expanded repeat is…”
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“Status myotonicus” in Nav1.4-M1592V channelopathy by Rempe, Torge, Subramony, S.H.

“…•Potassium-aggravated myotonia due to Nav1.4-M1592V channelopathy.•Severe and long-lasting focal attacks of myotonia resembling dystonic posturing.•Diffuse…”
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A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy by SCACHERI, P. C, HOFFMAN, E. P, FRATKIN, J. D, SEMINO-MORA, C, SENCHAK, A, DAVIS, M. R, LAING, N. G, VEDANARAYANAN, V, SUBRAMONY, S. H

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