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
1.
Indelicato E, Delatycki M, Farmer J, Franca Jr M, Perlman S, Rai M, et al.
Nat Rev Neurol
. 2025 Mar;
PMID: 40032987
Friedreich ataxia (FRDA) is a rare multisystem, life-limiting disease and is the most common early-onset inherited ataxia in populations of European, Arab and Indian descent. In recent years, substantial progress...
2.
Potashman M, Rudell K, Suminski N, Doma R, Heinrich M, Abetz-Webb L, et al.
Neurol Ther
. 2025 Jan;
14(2):547-563.
PMID: 39812736
Introduction: The Friedreich Ataxia Rating Scale-Activities of Daily Living (FARS-ADL) is a validated and highly utilized measure for evaluating patients with Friedreich Ataxia. While construct validity of FARS-ADL has been...
3.
Abou Chaar W, Eranki A, Stevens H, Watson S, Wong D, Avila V, et al.
Ann Neurol
. 2024 Sep;
96(6):1092-1103.
PMID: 39263992
Objectives: Spinocerebellar ataxia 27B due to GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene has recently been recognized as a common cause of late-onset hereditary cerebellar ataxia....
4.
Park J, Bremova-Ertl T, Brands M, Foltan T, Gautschi M, Gissen P, et al.
J Neurol
. 2024 Sep;
271(10):6888-6902.
PMID: 39225743
Objective: To evaluate the reliability, responsiveness, and validity of the Scale for the Assessment and Rating of Ataxia (SARA) in patients with lysosomal storage disorders (LSDs) who present with neurological...
5.
Zielen S, Crawford T, Benatti L, Magnani M, Kieslich M, Ryan M, et al.
Lancet Neurol
. 2024 Aug;
23(9):871-882.
PMID: 39152028
Background: Ataxia telangiectasia is a multisystem disorder with progressive neurodegeneration. Corticosteroids can improve neurological functioning in patients with the disorder but adrenal suppression and symptom recurrence on treatment discontinuation has...
6.
Koka M, Li H, Akther R, Perlman S, Wong D, Fogel B, et al.
Brain Commun
. 2024 Jun;
6(3):fcae170.
PMID: 38846537
Friedreich's ataxia is a neurodegenerative disorder caused by reduced frataxin levels. It leads to motor and sensory impairments and has a median life expectancy of around 35 years. As the...
7.
LItalien G, Oikonomou E, Khera R, Potashman M, Beiner M, Maclaine G, et al.
Neurol Ther
. 2024 May;
13(4):1287-1301.
PMID: 38814532
Introduction: Traditional methods for assessing movement quality rely on subjective standardized scales and clinical expertise. This limitation creates challenges for assessing patients with spinocerebellar ataxia (SCA), in whom changes in...
8.
Potashman M, Rudell K, Pavisic I, Suminski N, Doma R, Heinrich M, et al.
Cerebellum
. 2024 May;
23(5):2012-2027.
PMID: 38713312
The functional Scale for the Assessment and Rating of Ataxia (f-SARA) assesses Gait, Stance, Sitting, and Speech. It was developed as a potentially clinically meaningful measure of spinocerebellar ataxia (SCA)...
9.
LItalien G, Popoff E, Rogula B, Powell L, Potashman M, Dickson S, et al.
Cerebellum
. 2024 May;
23(5):2028-2041.
PMID: 38710966
Spinocerebellar ataxias (SCA) are rare inherited neurodegenerative disorders characterized by a progressive impairment of gait, balance, limb coordination, and speech. There is currently no composite scale that includes multiple aspects...
10.
Rummey C, Perlman S, Subramony S, Farmer J, Lynch D
Ann Clin Transl Neurol
. 2024 Apr;
11(5):1290-1300.
PMID: 38556905
Objectives: Friedreich ataxia (FRDA) is a rare genetic disorder caused by mutations in the FXN gene, leading to progressive coordination loss and other symptoms. The recently approved omaveloxolone targets this...