検索結果 - Susan Perlman

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  1. 1
    A Phase 3, Double-blind, Placebo-Controlled Trial of Idebenone in Friedreich Ataxia

    A Phase 3, Double-blind, Placebo-Controlled Trial of Idebenone in Friedreich Ataxia 著者: David R. Lynch, Susan Perlman, Thomas Meier

    出版事項 2010
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    Artigo
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  2. 2
    Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans

    Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans 著者: Mittal J. Jasoliya, Marissa Z. McMackin, Chelsea K. Henderson, Susan Perlman, Gino Cortopassi

    出版事項 2017
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    Artigo
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  3. 3
    An International Survey-based Algorithm for the Pharmacologic Treatment of Chorea in Huntington’s Disease

    An International Survey-based Algorithm for the Pharmacologic Treatment of Chorea in Huntington’s Disease 著者: Jean‐Marc Burgunder, Mark Guttman, Susan Perlman, Nathan Goodman, Daniël P. van Kammen, LaVonne Goodman

    出版事項 2011
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    Artigo
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  4. 4
    A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia

    A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia 著者: Éric Deutsch, Avni Santani, Susan Perlman, Jennifer Farmer, Catherine A. Stolle, Michael F. Marusich, David R. Lynch

    出版事項 2010
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    Artigo
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  5. 5
    Longitudinal Changes in Patient‐ and Clinical‐Reported Outcomes in Early Spinocerebellar Ataxia Types 1, 2, 3, and 6 from the <scp>IDEA</scp> Study

    Longitudinal Changes in Patient‐ and Clinical‐Reported Outcomes in Early Spinocerebellar Ataxia Types 1, 2, 3, and 6 from the <scp>IDEA</scp> Study 著者: Andreea M. Rawlings, Rosalind Chuang, Jeremy D. Schmahmann, Susan Perlman, Liana S. Rosenthal, Delaram Safarpour, Hannah Casey, Fay B. Horak, Christopher M. Gomez

    出版事項 2025
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    Artigo
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  6. 6
    Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia

    Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia 著者: Sunil Sahdeo, Brian D. Scott, Marissa Z. McMackin, Mittal Jasoliya, Brandon M. Brown, Heike Wulff, Susan Perlman, Mark A. Pook, Gino Cortopassi

    出版事項 2014
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    Artigo
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  7. 7
    A patient with Huntington’s disease and long-surviving fetal neural transplants that developed mass lesions

    A patient with Huntington’s disease and long-surviving fetal neural transplants that developed mass lesions 著者: C. Dirk Keene, Rubens Chang, James B. Leverenz, Oleg V. Kopyov, Susan Perlman, Robert F. Hevner, Donald E. Born, Thomas D. Bird, Thomas J. Montine

    出版事項 2008
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  8. 8
    Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich’s ataxia patients

    Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich’s ataxia patients 著者: Daniel Nachun, Fuying Gao, Charles J. Isaacs, Cassandra J. Strawser, Zhongan Yang, Deepika Dokuru, Victoria Van Berlo, Renee Sears, Jennifer Farmer, Susan Perlman, David R. Lynch, Giovanni Coppola

    出版事項 2018
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  9. 9
    Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design

    Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design 著者: Lisa S. Friedman, Jennifer Farmer, Susan Perlman, George Wilmot, Christopher M. Gómez, Khalaf Bushara, Katherine D. Mathews, S. H. Subramony, Tetsuo Ashizawa, Laura J. Balcer, Robert B. Wilson, David R. Lynch

    出版事項 2010
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  10. 10
    Emerging Therapies in Friedreich’s Ataxia

    Emerging Therapies in Friedreich’s Ataxia 著者: Tanya V Aranca, Tracy Jones, Jessica Shaw, Joseph S. Staffetti, Tetsuo Ashizawa, Sheng‐Han Kuo, Brent L. Fogel, George Wilmot, Susan Perlman, Chiadi U. Onyike, Sarah H. Ying, Theresa A. Zesiewicz

    出版事項 2016
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    Revisão
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  11. 11
    MRI Shows a Region-Specific Pattern of Atrophy in Spinocerebellar Ataxia Type 2

    MRI Shows a Region-Specific Pattern of Atrophy in Spinocerebellar Ataxia Type 2 著者: Brian C. Jung, Soo In Choi, Annie Du, Jennifer L. Cuzzocreo, Howard S. Ying, Bennett A. Landman, Susan Perlman, Robert W. Baloh, David S. Zee, Arthur W. Toga, Jerry L. Prince, Sarah H. Ying

    出版事項 2011
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  12. 12
    Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

    Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia 著者: Brent L. Fogel, Hane Lee, Joshua L. Deignan, Samuel P. Strom, Sibel Kantarci, Xizhe Wang, Fabiola Quintero‐Rivera, Éric Vilain, Wayne W. Grody, Susan Perlman, Daniel H. Geschwind, Stanley F. Nelson

    出版事項 2014
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  13. 13
    Initial experience in the treatment of inherited mitochondrial disease with EPI-743

    Initial experience in the treatment of inherited mitochondrial disease with EPI-743 著者: Gregory M. Enns, Stephen L. Kinsman, Susan Perlman, Kenneth Spicer, José E. Abdenur, Bruce H. Cohen, Akiko Amagata, Adam Barnes, Viktoria Kheifets, William D. Shrader, Martin Thoolen, Francis G. Blankenberg, Guy Miller

    出版事項 2011
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  14. 14
    Efficacy and Safety of N-Acetyl- <scp>l</scp> -Leucine in Children and Adults With GM2 Gangliosidoses

    Efficacy and Safety of N-Acetyl- <scp>l</scp> -Leucine in Children and Adults With GM2 Gangliosidoses 著者: Κyriakos Martakis, Jens Claaßen, Jordi Gascon-Bayari, Nicolina Goldschagg, Andreas Hahn, Anhar Hassan, Anita Hennig, Simon Jones, R. Kay, Heather Lau, Susan Perlman, Reena Sharma, Susanne A. Schneider, Tatiana Brémovà-Ertl

    出版事項 2022
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    Artigo
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  15. 15
    Prevalence of <i>RFC1</i> -mediated spinocerebellar ataxia in a North American ataxia cohort

    Prevalence of <i>RFC1</i> -mediated spinocerebellar ataxia in a North American ataxia cohort 著者: Dona Aboud Syriani, Darice Y. Wong, Sameer Andani, Claudio M. de Gusmão, Yuanming Mao, May Sanyoura, Giacomo Glotzer, Paul J. Lockhart, Sharon Hassin‐Baer, Vikram Khurana, Christopher M. Gómez, Susan Perlman, Soma Das, Brent L. Fogel

    出版事項 2020
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    Artigo
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  16. 16
    Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes

    Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes 著者: Pilar Garcés, Chrystalina A. Antoniades, Anna Sobańska, Norbert Kovács, Sarah H. Ying, Anoopum S. Gupta, Susan Perlman, David J. Szmulewicz, Chiara Pane, Andrea H. Németh, Laura Bannach Jardim, Giulia Coarelli, Michaela Daňková, Andreas Traschütz, Alexander A. Tarnutzer

    出版事項 2023
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  17. 17
    Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers

    Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers 著者: Pilar Garcés, Chrystalina A. Antoniades, Anna Sobańska, Norbert Kovács, Sarah H. Ying, Anoopum S. Gupta, Susan Perlman, David J. Szmulewicz, Chiara Pane, Andrea H. Németh, Laura Bannach Jardim, Giulia Coarelli, Michaela Daňková, Andreas Traschütz, Alexander A. Tarnutzer

    出版事項 2023
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    Artigo
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  18. 18
    Psychometric properties of the Friedreich Ataxia Rating Scale

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

    出版事項 2019
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    Artigo
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  19. 19
    Efficacy and safety of rifampicin for multiple system atrophy: a randomised, double-blind, placebo-controlled trial

    Efficacy and safety of rifampicin for multiple system atrophy: a randomised, double-blind, placebo-controlled trial 著者: Phillip A. Low, David L. Robertson, Sid Gilman, Horacio Kaufmann, Wolfgang Singer, Italo Biaggioni, Roy Freeman, Susan Perlman, Robert A. Hauser, William P. Cheshire, Stephanie Lessig, Steven Vernino, Jay Mandrekar, William D. Dupont, Thomas Chelimsky, Wendy R. Galpern

    出版事項 2014
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    Artigo
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  20. 20
    Efficacy of Omaveloxolone in Friedreich's Ataxia: <scp>Delayed‐Start</scp> Analysis of the <scp>MOXIe</scp> Extension

    Efficacy of Omaveloxolone in Friedreich's Ataxia: <scp>Delayed‐Start</scp> Analysis of the <scp>MOXIe</scp> Extension 著者: David R. Lynch, Melanie Chin, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, Angie Goldsberry, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Megan O’Grady, Susan Perlman, S. H. Subramony, George Wilmot, Theresa A. Zesiewicz, Colin J. Meyer

    出版事項 2022
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    Artigo
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