Publications by authors named "Susan Perlman"

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Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
David R Lynch, Melanie P Chin, Martin B Delatycki, S H Subramony, Manuela Corti, J Chad Hoyle, Sylvia Boesch, Wolfgang Nachbauer, Caterina Mariotti, Katherine D Mathews

Ann Neurol· February 2021

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HR: a tool for modeling hemodynamic response variability in fNIRS.
Denny Schaedig, Megan Schumer, Bedilia Mata-Centeno, Luca Pollonini, Koraly Pérez-Edgar, Susan B Perlman

Neurophotonics· January 2026

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Digital Gait Measures Discriminate People with Friedreich's Ataxia from Healthy Controls.
Hannah L Casey, Vrutangkumar V Shah, Daniel Muzyka, James McNames, Mahmoud El-Gohary, Susan Perlman

Mov Disord Clin Pract· December 2025

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Reliability and validity of the Huntington's Disease Everyday Functioning (Hi-DEF): A patient-reported measure of cognitive capacity on daily functioning in Huntington's disease.
Jennifer Petrillo, Ruta Sawant, Rebecca Rogers, Sophie Cleanthous, Stefan Cano, Susan Perlman

J Huntingtons Dis· November 2025

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Correction: The Natural History Study and Biomarker Collection of the Clinical Research Consortium for the Study of Cerebellar Ataxia (CRC-SCA).
Yicheng Lin, Nadia Amokrane, Sandie Worley, Lauren R Moore, Andrew Rosen, Susan Perlman

Cerebellum· November 2025

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Development and validation of a composite digital balance score for spinocerebellar ataxia: a prospective study.
James McNames, Vrutangkumar V Shah, Hannah L Casey, Kristen L Sowalsky, Mahmoud El-Gohary, Susan Perlman

Lancet Digit Health· October 2025

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Venglustat in GM2 gangliosidoses and related disorders: Results of the AMETHIST randomized controlled and basket trials.
Cynthia J Tifft, Isabela Batsu, Roberto Giugliani, Harmonie Goyeau, Andreas Hahn, Susan Perlman

Genet Med· October 2025

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Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3.
Emilien Petit, Giulia Coarelli, David Morgan, Paulina Cunha, Hortense Hurmic, Susan Perlman

Brain· October 2025

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Content Validity of the Spinocerebellar Ataxia Composite Score as a Measure of Disease Progression in Patients with Spinocerebellar Ataxia.
Michele Potashman, Maggie Heinrich, Katja Rudell, Linda Abetz-Webb, Naomi Suminski, Susan Perlman

Cerebellum· September 2025

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Managing Aminotransferase Elevations in Patients with Friedreich Ataxia Treated with Omaveloxolone: A Review and Expert Opinion on Use Considerations.
Susan Perlman, Mathieu Anheim, Sylvia Boesch, James H Lewis, David R Lynch

Neurol Ther· August 2025

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The clinical burden of Friedreich ataxia in the United States: A retrospective claims database analysis.
Susan Perlman, Su Zhang, Juliana Setyawan, Hongbo Yang, Anya Jiang

J Neurol Sci· August 2025

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Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.
Elena Pretegiani, Pilar Garces, Chrystalina A Antoniades, Anna Sobanska, Norbert Kovacs, Susan Perlman

Cerebellum· August 2025

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The Natural History Study and Biomarker Collection of the Clinical Research Consortium for the Study of Cerebellar Ataxia (CRC-SCA).
Yicheng Lin, Nadia Amokrane, Sandie Worley, Lauren R Moore, Andrew Rosen, Susan Perlman

Cerebellum· July 2025

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Disease Progression in Children With Friedreich Ataxia: Functional Performance and Other Outcome Assessments in the FACHILD Study.
Christian Rummey, Susan Perlman, S H Subramony, Manuela Corti, Jennifer Farmer

J Child Neurol· July 2025

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Constructing the "Family Personality": Can Family Functioning Be Linked to Parent-Child Interpersonal Neural Synchronization?
Khalil I Thompson, Clayton J Schneider, Joscelin Rocha-Hidalgo, Shri Jeyaram, Bedilia Mata-Centeno, Susan B Perlman

J Pers· June 2025

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Longitudinal Changes in Patient- and Clinical-Reported Outcomes in Early Spinocerebellar Ataxia Types 1, 2, 3, and 6 from the IDEA Study.
Andreea M Rawlings, Rosalind S Chuang, Jeremy D Schmahmann, Susan L Perlman, Liana S Rosenthal

Mov Disord Clin Pract· May 2025

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Spinocerebellar Ataxia Progression Measured with the Patient-Reported Outcome Measure of Ataxia.
Anna L Burt, Gilbert L'Italien, Susan L Perlman, Liana S Rosenthal, Sheng-Han Kuo

Mov Disord· May 2025

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Content Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia.
Michele Potashman, Katja Rudell, Naomi Suminski, Rinchen Doma, Maggie Heinrich, Susan Perlman

Neurol Ther· April 2025

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A global perspective on research advances and future challenges in Friedreich ataxia.
Elisabetta Indelicato, Martin B Delatycki, Jennifer Farmer, Marcondes C França, Susan Perlman

Nat Rev Neurol· April 2025

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Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia.
Mary Kay Koenig, Vincenzo Leuzzi, Riadh Gouider, Eppie M Yiu, Barbara Pietrucha, Susan L Perlman

Front Neurol· January 2025

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Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).
Widad Abou Chaar, Anirudh N Eranki, Hannah A Stevens, Sonya L Watson, Darice Y Wong, Susan Perlman

Ann Neurol· December 2024

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Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.
Julien Park, Tatiana Bremova-Ertl, Marion Brands, Tomas Foltan, Matthias Gautschi, Susan Perlman

J Neurol· October 2024

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Racial Disparities in Time to Huntington Disease Diagnosis in North America: An ENROLL-HD Analysis.
Adys Mendizabal, Amy C Ogilvie, Yvette Bordelon, Susan L Perlman, Arleen Brown

Neurol Clin Pract· October 2024

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Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.
Stefan Zielen, Thomas Crawford, Luca Benatti, Mauro Magnani, Matthias Kieslich, Susan Perlman

Lancet Neurol· September 2024

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