Professor, Neurology, UCLA School of Medicine
Neurology
Dr. Susan L. Perlman, MD
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Susan Perlman is an expert in the field of Neurology. She researched medicine at Stony Brook University School of Medicine. She received awards:"Super Doctor". Susan Perlman is also published. She has 61 publications published. The lastest publication: "Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.' Susan Perlman is registered with Medicare and accepts Medicare payments.
Publications
- Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.
- Friedreich's Ataxia: the European consortium.
- Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar Ataxia.
- Clinical Evaluation of Eye Movements in Spinocerebellar Ataxias: A Prospective Multicenter Study.
- Mutation of Senataxin Alters Disease-Specific Transcriptional Networks in Patients with Ataxia with Oculomotor Apraxia Type 2.
- Analysis of the visual system in Friedreich Ataxia.
- Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13.
- Mutations in PDYN are not responsible for Multiple system atrophy.
- Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease.
- C9ORF72 expansion is not a significant cause of sporadic spinocerebellar Ataxia.
- A review of friedreich Ataxia clinical trial results.
- Principal Component Analysis of Cerebellar Shape on MRI Separates SCA Types 2 and 6 into Two Archetypal Modes of Degeneration.
- Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich Ataxia.
- Initial experience in the treatment of inherited mitochondrial Disease with EPI-743.
- MRI Shows a Region-Specific Pattern of Atrophy in Spinocerebellar Ataxia Type 2.
- Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's Ataxia: data from a 6-month controlled study followed by a 12-month open-label...
- Mortality in Friedreich Ataxia.
- Idebenone in Friedreich Ataxia cardiomyopathy-results from a 6-month phase III study (IONIA).
- Candidate Screening of the TRPC3 Gene in Cerebellar Ataxia.
- A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich Ataxia.
- A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich Ataxia.
- Patterns of fractional anisotropy changes in white matter of cerebellar peduncles distinguish spinocerebellar Ataxia-1 from multiple system atrophy and other Ataxia sy...
- Ataxias.
- Histone deacetylase inhibitors reverse gene silencing in Friedreich's Ataxia.
- Late-onset Friedreich Ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature.
- Symptomatic and disease-modifying therapy for the progressive Ataxias.
- Late-onset Tay-Sachs disease as a Friedreich Ataxia phenocopy.
- Spinocerebellar degenerations: an update.
- Vascular risk factors and clinical progression in spinocerebellar Ataxias.
- SMRT compounds abrogate cellular phenotypes of Ataxia telangiectasia in neural derivatives of patient-specific hiPSCs.
- A patient with Huntington''s Disease and long-surviving fetal neural transplants that developed mass lesions.
- Evoked potential abnormalities in the various inherited Ataxias.
- A randomized trial of varenicline (Chantix) for the treatment of spinocerebellar Ataxia type 3.
- The mental status of patients with Friedreich's Ataxia.
- A proposed bailout for A-T patients?
- Relative atrophy of the flocculus and ocular motor dysfunction in SCA2 and SCA6.
- An International Survey-based Algorithm for the Pharmacologic Treatment of Chorea in Huntington's Disease.
- Myelin breakdown and iron changes in Huntington's Disease: pathogenesis and treatment implications.
- A family with combined mutations of the hemophilia A and X-linked adrenoleukoDystrophy genes.
- Radiosensitivity of Ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay.
- Pontine and cerebellar atrophy correlate with clinical disability in SCA2.
- Measuring the rate of progression in Friedreich Ataxia: implications for clinical trial design.
- Spinocerebellar Ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
- Depressive and memory symptoms as presenting features of spinocerebellar Ataxia.
- Clinical feature profile of spinocerebellar Ataxia type 1-8 predicts genetically defined subtypes.
- Novel mutations in the senataxin DNA/RNA helicase domain in Ataxia with oculomotor apraxia 2.
- Ataxia-telangiectasia: diagnosis and treatment.
- Medical image. "Hot cross bun" sign.
- A gene expression phenotype in lymphocytes from Friedreich Ataxia patients.
- Clinical features and molecular genetics of autosomal recessive cerebellar Ataxias.
- Aberrant splicing of the senataxin gene in a patient with Ataxia with oculomotor apraxia type 2.
- Health related quality of life measures in Friedreich Ataxia.
- Late-onset pure cerebellar Ataxia: differentiating those with and without identifiable mutations.
- An approach to the patient with late-onset cerebellar Ataxia.
- Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with Ataxia.
- Spinocerebellar degeneration.
- Antioxidant use in Friedreich Ataxia.
- Spinocerebellar degenerations.
- Treatment and management issues in ataxic Diseases.
- Ataxia-telangiectasia.
Schools
Stony Brook Univ Health Sciences Center School Of Medicine
University Of California Los Angeles
Procedures Preformed
- EEG (Electroencephalogram)
Conditions Treated
- Ataxia
- Brain Aneurysm
- Carpal Tunnel Syndrome
- Cerebral Artery Thrombosis
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Doctors Specialties
- Neurology
Accepted Insurances
Awards
- Super Doctor
Education
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UCLA Medical Center -
Stony Brook University School of Medicine
Hospital
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Ronald Reagan UCLA Medical Center
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