Résultats de la recherche - Perlman, Susan L
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A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia par Deutsch, Eric C., Santani, Avni B., Perlman, Susan L., Farmer, Jennifer M., Stolle, Catherine A., Marusich, Michael F., Lynch, David R.
Publié 2010Texte -
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Candidate Screening of the TRPC3 Gene in Cerebellar Ataxia par Becker, Esther B. E., Fogel, Brent L., Rajakulendran, Sanjeev, Dulneva, Anna, Hanna, Michael G., Perlman, Susan L., Geschwind, Daniel H., Davies, Kay E.
Publié 2011Texte -
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Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich’s ataxia par Martelli, Alain, Friedman, Lisa S., Reutenauer, Laurence, Messaddeq, Nadia, Perlman, Susan L., Lynch, David R., Fedosov, Kathrin, Schulz, Jörg B., Pandolfo, Massimo, Puccio, Hélène
Publié 2012Texte -
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Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia par Sahdeo, Sunil, Scott, Brian D., McMackin, Marissa Z., Jasoliya, Mittal, Brown, Brandon, Wulff, Heike, Perlman, Susan L., Pook, Mark A., Cortopassi, Gino A.
Publié 2014Texte -
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Principal Component Analysis of Cerebellar Shape on MRI Separates SCA Types 2 and 6 into Two Archetypal Modes of Degeneration par Jung, Brian C., Choi, Soo I., Du, Annie X., Cuzzocreo, Jennifer L., Geng, Zhuo Z., Ying, Howard S., Perlman, Susan L., Toga, Arthur W., Prince, Jerry L., Ying, Sarah H.
Publié 2012Texte -
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Relationships among Apathy, Health-Related Quality of Life and Function in Huntington’s disease par Fritz, Nora E., Boileau, Nicholas R., Stout, Julie C., Ready, Rebecca, Perlmutter, Joel S., Paulsen, Jane S., Quaid, Kimberly, Barton, Stacey, McCormack, Michael K., Perlman, Susan L., Carlozzi, Noelle E.
Publié 2018Texte -
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Antioxidant use in Friedreich ataxia par Myers, Lauren, Farmer, Jennifer M., Wilson, Robert B., Friedman, Lisa, Perlman, Susan L., Subramony, Sub H., Gomez, Christopher M., Ashizawa, Tetsuo, Wilmot, George R., Mathews, Katherine D., Balcer, Laura J., Lynch, David R.
Publié 2007Texte -
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MRI shows a region-specific pattern of atrophy in spinocerebellar ataxia type 2 par Jung, Brian C., Choi, Soo I., Du, Annie X., Cuzzocreo, Jennifer L., Ying, Howard S., Landman, Bennett A., Perlman, Susan L., Baloh, Robert W., Zee, David S., Toga, Arthur W., Prince, Jerry L., Ying, Sarah H.
Publié 2012Texte -
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Emerging therapies in Friedreich's ataxia par Aranca, Tanya V, Jones, Tracy M, Shaw, Jessica D, Staffetti, Joseph S, Ashizawa, Tetsuo, Kuo, Sheng-Han, Fogel, Brent L, Wilmot, George R, Perlman, Susan L, Onyike, Chiadi U, Ying, Sarah H, Zesiewicz, Theresa A
Publié 2016Texte -
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Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study par Patel, Maya, McCormick, Ashley, Tamaroff, Jaclyn, Dunn, Julia, Mitchell, Jonathan A., Lin, Kimberly Y., Farmer, Jennifer, Rummey, Christian, Perlman, Susan L., Delatycki, Martin B., Wilmot, George R., Mathews, Katherine D., Yoon, Grace, Hoyle, Joseph, Corti, Manuela, Subramony, S.H., Zesiewicz, Theresa, Lynch, David, McCormack, Shana E.
Publié 2021Texte -
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Frataxin levels in peripheral tissue in Friedreich ataxia par Lazaropoulos, Michael, Dong, Yina, Clark, Elisia, Greeley, Nathaniel R, Seyer, Lauren A, Brigatti, Karlla W, Christie, Carlton, Perlman, Susan L, Wilmot, George R, Gomez, Christoper M, Mathews, Katherine D, Yoon, Grace, Zesiewicz, Theresa, Hoyle, Chad, Subramony, Sub H, Brocht, Alicia F, Farmer, Jennifer M, Wilson, Robert B, Deutsch, Eric C, Lynch, David R
Publié 2015Texte -
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Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study par 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, SH
Publié 2013Texte -
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α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson’s disease from multiple system atrophy par Dutta, Suman, Hornung, Simon, Kruayatidee, Adira, Maina, Katherine N., del Rosario, Irish, Paul, Kimberly C., Wong, Darice Y., Duarte Folle, Aline, Markovic, Daniela, Palma, Jose-Alberto, Serrano, Geidy E., Adler, Charles H., Perlman, Susan L., Poon, Wayne W., Kang, Un Jung, Alcalay, Roy N., Sklerov, Miriam, Gylys, Karen H., Kaufmann, Horacio, Fogel, Brent L., Bronstein, Jeff M., Ritz, Beate, Bitan, Gal
Publié 2021Texte