Concepedia

Susan Perlman

SP

116

Publications

8.7K

Citations

54

H-Index

1980

Active since

Affiliations

University of California, Los Angeles(Current)

Emory University

Children's Hospital of Philadelphia

University of Chicago

Johns Hopkins University

Susan Perlman is an author at University of California, Los Angeles specializing in medicine, neurology, and neuropathology.

ORCID

Top concepts

Publications per year

1980–2024

116

Publications

116

Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia

David Herman, Kai Jenssen, Ryan Burnett et al. · Nature Chemical Biology · 2006 · 432 citations · Full text

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Mortality in Friedreich Ataxia

Amy Y. Tsou, Erin K. Paulsen, Sarah J. Lagedrost et al. · Journal of the Neurological Sciences · 2011 · 298 citations

, , +4

Spinocerebellar ataxia type 6: Gaze‐evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset

Christopher M. Gómez, Randall M. Thompson, Jason T. Gammack et al. · Annals of Neurology · 1997 · 280 citations

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett et al. · The American Journal of Human Genetics · 2019 · 276 citations · Full text

Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (<scp>MOXIe</scp> Study)

David R. Lynch, Melanie Chin, Martin B. Delatycki et al. · Annals of Neurology · 2020 · 273 citations · Full text

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