खोज परिणाम - Susan Perlman
- प्रदर्शित 1 - 20 परिणाम 51
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Longitudinal Changes in Patient‐ and Clinical‐Reported Outcomes in Early Spinocerebellar Ataxia Types 1, 2, 3, and 6 from the <scp>IDEA</scp> Study द्वारा Andreea M. Rawlings, Rosalind Chuang, Jeremy D. Schmahmann, Susan Perlman, Liana S. Rosenthal, Delaram Safarpour, Hannah Casey, Fay B. Horak, Christopher M. Gomez
प्रकाशित 2025Artigo -
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Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia द्वारा Sunil Sahdeo, Brian D. Scott, Marissa Z. McMackin, Mittal Jasoliya, Brandon M. Brown, Heike Wulff, Susan Perlman, Mark A. Pook, Gino Cortopassi
प्रकाशित 2014Artigo -
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A patient with Huntington’s disease and long-surviving fetal neural transplants that developed mass lesions द्वारा 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
प्रकाशित 2008Artigo -
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Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich’s ataxia patients द्वारा 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
प्रकाशित 2018Artigo -
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Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design द्वारा 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
प्रकाशित 2010Artigo -
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MRI Shows a Region-Specific Pattern of Atrophy in Spinocerebellar Ataxia Type 2 द्वारा 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
प्रकाशित 2011Artigo -
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Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia द्वारा 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
प्रकाशित 2014Artigo -
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Initial experience in the treatment of inherited mitochondrial disease with EPI-743 द्वारा 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
प्रकाशित 2011Artigo -
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Efficacy and Safety of N-Acetyl- <scp>l</scp> -Leucine in Children and Adults With GM2 Gangliosidoses द्वारा 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
प्रकाशित 2022Artigo -
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Prevalence of <i>RFC1</i> -mediated spinocerebellar ataxia in a North American ataxia cohort द्वारा 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
प्रकाशित 2020Artigo -
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Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes द्वारा 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
प्रकाशित 2023Artigo -
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Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers द्वारा 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
प्रकाशित 2023Artigo -
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Psychometric properties of the Friedreich Ataxia Rating Scale द्वारा 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
प्रकाशित 2019Artigo -
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Efficacy and safety of rifampicin for multiple system atrophy: a randomised, double-blind, placebo-controlled trial द्वारा 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
प्रकाशित 2014Artigo -
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Efficacy of Omaveloxolone in Friedreich's Ataxia: <scp>Delayed‐Start</scp> Analysis of the <scp>MOXIe</scp> Extension द्वारा 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
प्रकाशित 2022Artigo
खोज साधन:
संबंधित विषय
Medicine
Ataxia
Internal medicine
Psychiatry
Pathology
Psychology
Disease
Spinocerebellar ataxia
Biology
Genetics
Neuroscience
Gene
Physical medicine and rehabilitation
Physical therapy
Pediatrics
Clinical trial
Cohort
Developmental psychology
Frataxin
Rating scale
Surgery
Alternative medicine
Environmental health
Iron-binding proteins
Placebo
Population
Audiology
Bioinformatics
Quality of life (healthcare)
Randomized controlled trial