Susan Perlman
Overview
Explore the profile of Susan Perlman including associated specialties, affiliations and a list of published articles.
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Articles
89
Citations
1820
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Recent Articles
11.
Casey H, Shah V, Muzyka D, McNames J, El-Gohary M, Sowalsky K, et al.
Mov Disord
. 2024 Mar;
39(6):996-1005.
PMID: 38469957
Background: Progressive loss of standing balance is a feature of Friedreich's ataxia (FRDA). Objectives: This study aimed to identify standing balance conditions and digital postural sway measures that best discriminate...
12.
Lynch D, Subramony S, Lin K, Mathews K, Perlman S, Yoon G, et al.
Pediatr Cardiol
. 2024 Mar;
46(2):379-382.
PMID: 38427090
We examined the clinical features of Friedreich ataxia (FRDA) patients who present first with cardiac disease in order to understand the earliest features of the diagnostic journey in FRDA. We...
13.
Lai R, Rummey C, Amlang C, Lin C, Chen T, Perlman S, et al.
Mov Disord Clin Pract
. 2024 Feb;
11(5):496-503.
PMID: 38419568
Background: Fatigue is a prevalent and debilitating symptom in neurological disorders, including spinocerebellar ataxias (SCAs). However, the risk factors of fatigue in the SCAs as well as its impact have...
14.
Shah V, Muzyka D, Jagodinsky A, McNames J, Casey H, El-Gohary M, et al.
Mov Disord
. 2024 Feb;
39(4):663-673.
PMID: 38357985
Background: Maintaining balance is crucial for independence and quality of life. Loss of balance is a hallmark of spinocerebellar ataxia (SCA). Objective: The aim of this study was to identify...
15.
Lynch D, Perlman S, Schadt K
Expert Rev Neurother
. 2024 Jan;
24(3):251-258.
PMID: 38269532
Introduction: Omavaloxolone, an NRF2 activator, recently became the first drug approved specifically for the treatment of Friedreich ataxia (FRDA). This landmark achievement provides a background for a review of the...
16.
Mendizabal A, Singh A, Perlman S, Brown A, Bordelon Y
Neurol Clin Pract
. 2023 Oct;
13(6):e200200.
PMID: 37795504
Background And Objectives: Social and structural determinants of health (SDOH) have been associated with disability in neurologic diseases. However, the association between these factors and disability in Huntington disease (HD)...
17.
Lynch D, Goldsberry A, Rummey C, Farmer J, Boesch S, Delatycki M, et al.
Ann Clin Transl Neurol
. 2023 Sep;
11(1):4-16.
PMID: 37691319
Objective: The natural history of Friedreich ataxia is being investigated in a multi-center longitudinal study designated the Friedreich ataxia Clinical Outcome Measures Study (FACOMS). To understand the utility of this...
18.
Garces P, Antoniades C, Sobanska A, Kovacs N, Ying S, Gupta A, et al.
Cerebellum
. 2023 Apr;
23(3):896-911.
PMID: 37117990
Oculomotor deficits are common in hereditary ataxia, but disproportionally neglected in clinical ataxia scales and as outcome measures for interventional trials. Quantitative assessment of oculomotor function has become increasingly available...
19.
Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, et al.
Neurology
. 2023 Feb;
100(17):e1836-e1848.
PMID: 36797067
Background And Objectives: In spinocerebellar ataxia, ataxia onset can be preceded by mild clinical manifestation, cerebellar and/or brainstem alterations, or biomarker modifications. READISCA is a prospective, longitudinal observational study of...
20.
Garces P, Antoniades C, Sobanska A, Kovacs N, Ying S, Gupta A, et al.
Cerebellum
. 2023 Jan;
23(1):121-135.
PMID: 36640220
Characterizing bedside oculomotor deficits is a critical factor in defining the clinical presentation of hereditary ataxias. Quantitative assessments are increasingly available and have significant advantages, including comparability over time, reduced...