Результаты поиска - Susan Perlman

Отмена результатов
  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 по David R. Lynch, Susan Perlman, Thomas Meier

    Опубликовано 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 по Mittal J. Jasoliya, Marissa Z. McMackin, Chelsea K. Henderson, Susan Perlman, Gino Cortopassi

    Опубликовано 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 по Jean‐Marc Burgunder, Mark Guttman, Susan Perlman, Nathan Goodman, Daniël P. van Kammen, LaVonne Goodman

    Опубликовано 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 по Éric Deutsch, Avni Santani, Susan Perlman, Jennifer Farmer, Catherine A. Stolle, Michael F. Marusich, David R. Lynch

    Опубликовано 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 по Andreea M. Rawlings, Rosalind Chuang, Jeremy D. Schmahmann, Susan Perlman, Liana S. Rosenthal, Delaram Safarpour, Hannah Casey, Fay B. Horak, Christopher M. Gomez

    Опубликовано 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 по Sunil Sahdeo, Brian D. Scott, Marissa Z. McMackin, Mittal Jasoliya, Brandon M. Brown, Heike Wulff, Susan Perlman, Mark A. Pook, Gino Cortopassi

    Опубликовано 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 по 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

    Опубликовано 2008
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    Artigo
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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 по 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

    Опубликовано 2018
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    Artigo
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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 по 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

    Опубликовано 2010
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    Artigo
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  10. 10
    Emerging Therapies in Friedreich’s Ataxia

    Emerging Therapies in Friedreich’s Ataxia по 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

    Опубликовано 2016
    Полный текст
    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 по 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

    Опубликовано 2011
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    Artigo
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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 по 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

    Опубликовано 2014
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    Artigo
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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 по 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

    Опубликовано 2011
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    Artigo
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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 по 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

    Опубликовано 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 по 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

    Опубликовано 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 по 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

    Опубликовано 2023
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    Artigo
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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 по 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

    Опубликовано 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 по 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

    Опубликовано 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 по 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

    Опубликовано 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 по 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

    Опубликовано 2022
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    Artigo
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