Susan Perlman
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Explore the profile of Susan Perlman including associated specialties, affiliations and a list of published articles.
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89
Citations
1820
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Recent Articles
21.
Lynch D, Mathews K, Perlman S, Zesiewicz T, Subramony S, Omidvar O, et al.
J Neurol
. 2022 Dec;
270(3):1615-1623.
PMID: 36462055
Objectives: Friedreich ataxia is (FRDA) an autosomal recessive neurodegenerative disorder associated with intrinsic oxidative damage, suggesting that decreasing lipid peroxidation (LPO) might ameliorate disease progression. The present study tested the...
22.
Martakis K, Claassen J, Gascon-Bayari J, Goldschagg N, Hahn A, Hassan A, et al.
Neurology
. 2022 Dec;
100(10):e1072-e1083.
PMID: 36456200
Background And Objectives: GM2 gangliosidoses (Tay-Sachs and Sandhoff diseases) are rare, autosomal recessive, neurodegenerative diseases with no available symptomatic or disease-modifying treatments. This clinical trial investigated N-acetyl-l-leucine (NALL), an orally...
23.
Lynch D, Chin M, Boesch S, Delatycki M, Giunti P, Goldsberry A, et al.
Mov Disord
. 2022 Nov;
38(2):313-320.
PMID: 36444905
Background: MOXIe was a two-part study evaluating the safety and efficacy of omaveloxolone in patients with Friedreich's ataxia, a rare, progressive neurological disease with no proven therapy. MOXIe part 2,...
24.
Rodden L, Rummey C, Dong Y, Lagedrost S, Regner S, Brocht A, et al.
Front Mol Biosci
. 2022 Sep;
9:933788.
PMID: 36133907
Friedreich ataxia (FRDA) is a recessive neurodegenerative disease characterized by progressive ataxia, dyscoordination, and loss of vision. The variable length of the pathogenic GAA triplet repeat expansion in the gene...
25.
Krismer F, Palma J, Calandra-Buonaura G, Stankovic I, Vignatelli L, Berger A, et al.
Mov Disord
. 2022 Sep;
37(12):2336-2341.
PMID: 36074648
No abstract available.
26.
Rummey C, Corben L, Delatycki M, Wilmot G, Subramony S, Corti M, et al.
Neurology
. 2022 Jul;
99(14):e1499-e1510.
PMID: 35817567
Background And Objectives: The understanding of the natural history of Friedreich ataxia (FRDA) has improved considerably recently, but patterns of neurologic deterioration are not fully clarified, compromising the assessment of...
27.
Fu K, Saver J, Perlman S
Neurology
. 2022 Apr;
98(22):940-944.
PMID: 35387853
The recent therapeutic advances in the field of neurology highlight the importance of ongoing clinical trials. However, while clinical research in neurology has remained relatively stable over the past 10...
28.
Shah V, Rodriguez-Labrada R, Horak F, McNames J, Casey H, Hansson Floyd K, et al.
Mov Disord
. 2021 Aug;
36(12):2922-2931.
PMID: 34424581
Background: Quantitative assessment of severity of ataxia-specific gait impairments from wearable technology could provide sensitive performance outcome measures with high face validity to power clinical trials. Objectives: The aim of...
29.
Rummey C, Flynn J, Corben L, Delatycki M, Wilmot G, Subramony S, et al.
Ann Clin Transl Neurol
. 2021 May;
8(6):1239-1250.
PMID: 33949801
Objective: The objective of this study was to characterize the incidence and progression of scoliosis in the natural history of Friedreich's ataxia (FRDA) and document the factors leading to the...
30.
Brownstein M, Simon N, Long J, Yankey J, Maibach H, Cudkowicz M, et al.
J Clin Med
. 2020 Nov;
9(11).
PMID: 33207828
SRX246 is a vasopressin (AVP) 1a receptor antagonist that crosses the blood-brain barrier. It reduced impulsive aggression, fear, depression and anxiety in animal models, blocked the actions of intranasal AVP...