Resultados da busca - Susan Perlman

Refinar Resultados
  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 por David R. Lynch, Susan Perlman, Thomas Meier

    Publicado em 2010
    Obter o texto integral Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  2. 2
    Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans

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

    Publicado em 2017
    Obter o texto integral Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  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 por Jean‐Marc Burgunder, Mark Guttman, Susan Perlman, Nathan Goodman, Daniël P. van Kammen, LaVonne Goodman

    Publicado em 2011
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  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 por Éric Deutsch, Avni Santani, Susan Perlman, Jennifer Farmer, Catherine A. Stolle, Michael F. Marusich, David R. Lynch

    Publicado em 2010
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  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 por Andreea M. Rawlings, Rosalind Chuang, Jeremy D. Schmahmann, Susan Perlman, Liana S. Rosenthal, Delaram Safarpour, Hannah Casey, Fay B. Horak, Christopher M. Gomez

    Publicado em 2025
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  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 por Sunil Sahdeo, Brian D. Scott, Marissa Z. McMackin, Mittal Jasoliya, Brandon M. Brown, Heike Wulff, Susan Perlman, Mark A. Pook, Gino Cortopassi

    Publicado em 2014
    Obter o texto integral Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  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 por 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

    Publicado em 2008
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  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 por 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

    Publicado em 2018
    Obter o texto integral Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  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 por 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

    Publicado em 2010
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  10. 10
    Emerging Therapies in Friedreich’s Ataxia

    Emerging Therapies in Friedreich’s Ataxia por 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

    Publicado em 2016
    Obter o texto integral
    Revisão
    Salvar na lista
    Na minha lista:
  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 por 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

    Publicado em 2011
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  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 por 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

    Publicado em 2014
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  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 por 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

    Publicado em 2011
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  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 por 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

    Publicado em 2022
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  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 por 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

    Publicado em 2020
    Obter o texto integral Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  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 por 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

    Publicado em 2023
    Obter o texto integral Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  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 por 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

    Publicado em 2023
    Obter o texto integral Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  18. 18
    Psychometric properties of the Friedreich Ataxia Rating Scale

    Psychometric properties of the Friedreich Ataxia Rating Scale por 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

    Publicado em 2019
    Obter o texto integral Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  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 por 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

    Publicado em 2014
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  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 por 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

    Publicado em 2022
    Obter o texto integral Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:

Ferramentas de busca: