Susan Perlman
UCLA Health(US)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Neurological disorders and treatments, Parkinson's Disease Mechanisms and Treatments, DNA Repair Mechanisms
Most-Cited Works
- → Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia(2006)433 cited
- → Mortality in Friedreich Ataxia(2011)301 cited
- → Clinical features and molecular genetics of autosomal recessive cerebellar ataxias(2007)284 cited
- → Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS(2019)282 cited
- → Spinocerebellar ataxia type 6: Gaze‐evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset(1997)280 cited
- → Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study)(2020)277 cited
- → Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia