Publications by authors named "Susan L Perlman"

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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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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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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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The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias.
Louisa P Selvadurai, Susan L Perlman, Tetsuo Ashizawa, George R Wilmot, Chiadi U Onyike

Cerebellum· August 2024

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SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
Emilien Petit, Tanja Schmitz-Hübsch, Giulia Coarelli, Heike Jacobi, Anna Heinzmann, Susan L Perlman

J Neurol· July 2024

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CRPD frontiers in movement disorders Therapeutics: From evidence to treatment and applications: Addressing Patients' Needs in the Management of the Ataxias.
Susan L Perlman

Clin Park Relat Disord· May 2024

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Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort.
David R Lynch, Teerapat Rojsajjakul, S H Subramony, Susan L Perlman, Medina Keita

J Neurol· April 2024

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The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.
Louisa P Selvadurai, Susan L Perlman, George R Wilmot, Sub H Subramony, Christopher M Gomez

Cerebellum· October 2023

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Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.
Renata Neves, Blanca De Dios Perez, Rafal Panek, Sumit Jagani, Sophie Wilne, Susan L Perlman

Cancer Med· July 2023

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Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study.
Maya Patel, Ashley McCormick, Jaclyn Tamaroff, Julia Dunn, Jonathan A Mitchell, Susan L Perlman

Neurol Genet· December 2021

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α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy.
Suman Dutta, Simon Hornung, Adira Kruayatidee, Katherine N Maina, Irish Del Rosario, Susan L Perlman

Acta Neuropathol· September 2021

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Correction to: α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy.
Suman Dutta, Simon Hornung, Adira Kruayatidee, Katherine N Maina, Irish Del Rosario, Susan L Perlman

Acta Neuropathol· September 2021

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Update on the Treatment of Ataxia: Medication and Emerging Therapies.
Susan L Perlman

Neurotherapeutics· October 2020

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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Haloom Rafehi, David J Szmulewicz, Mark F Bennett, Nara L M Sobreira, Kate Pope, Susan L Perlman

Am J Hum Genet· July 2019

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Relationships Among Apathy, Health-Related Quality of Life, and Function in Huntington's Disease.
Nora E Fritz, Nicholas R Boileau, Julie C Stout, Rebecca Ready, Joel S Perlmutter, Susan L Perlman

J Neuropsychiatry Clin Neurosci· November 2018

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Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.
Resham Ejaz, Shiyi Chen, Charles J Isaacs, Amanda Carnevale, Judith Wilson, Susan L Perlman

J Child Neurol· May 2018

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

Hum Mol Genet· July 2017

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Emerging therapies in Friedreich's ataxia.
Tanya V Aranca, Tracy M Jones, Jessica D Shaw, Joseph S Staffetti, Tetsuo Ashizawa, Susan L Perlman

Neurodegener Dis Manag· October 2016

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Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.
Julianna E Shinnick, Kimberly Schadt, Cassandra Strawser, Nicholas Wilcox, Susan L Perlman

J Child Neurol· August 2016

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Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Charles A Galea, Aamira Huq, Paul J Lockhart, Geneieve Tai, Louise A Corben, Susan L Perlman

Ann Neurol· March 2016

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Frataxin levels in peripheral tissue in Friedreich ataxia.
Michael Lazaropoulos, Yina Dong, Elisia Clark, Nathaniel R Greeley, Lauren A Seyer, Susan L Perlman

Ann Clin Transl Neurol· August 2015

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Friedreich's ataxia: the European consortium.
David R Lynch, Susan L Perlman

Lancet Neurol· February 2015

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Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
Sunil Sahdeo, Brian D Scott, Marissa Z McMackin, Mittal Jasoliya, Brandon Brown, Susan L Perlman

Hum Mol Genet· December 2014

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Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
Tetsuo Ashizawa, Karla P Figueroa, Susan L Perlman, Christopher M Gomez, George R Wilmot

Orphanet J Rare Dis· November 2013

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