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Susan L Perlman Selected Research

Friedreich Ataxia (Friedreich's Ataxia)

1/2017Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.
1/2016Emerging therapies in Friedreich's ataxia.
1/2016Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.
8/2015Frataxin levels in peripheral tissue in Friedreich ataxia.
12/2014Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
12/2012Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease.
9/2012Childhood ataxia: clinical features, pathogenesis, key unanswered questions, and future directions.
9/2012Clinical monitoring in a patient with Friedreich ataxia and osteogenic sarcoma.
9/2012A review of Friedreich ataxia clinical trial results.
4/2012FXN methylation predicts expression and clinical outcome in Friedreich ataxia.
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Susan L Perlman Research Topics

Disease

18Friedreich Ataxia (Friedreich's Ataxia)
01/2017 - 10/2003
5Neurodegenerative Diseases (Neurodegenerative Disease)
01/2017 - 09/2004
4Ataxia (Dyssynergia)
10/2020 - 10/2003
3Cardiomyopathies (Cardiomyopathy)
09/2012 - 04/2008
2Multiple System Atrophy
09/2021 - 01/2021
2Parkinson Disease (Parkinson's Disease)
09/2021 - 01/2021
2Mitochondrial Diseases (Mitochondrial Disease)
12/2012 - 01/2012
2Leigh Disease (Leigh's Disease)
12/2012 - 01/2012
2MELAS Syndrome (Syndrome, MELAS)
12/2012 - 01/2012
2Neoplasms (Cancer)
11/2012 - 09/2012
1Parkinsonian Disorders (Parkinsonism)
01/2021
1Fatigue
10/2020
1Cognitive Dysfunction
10/2020
1Pain (Aches)
10/2020
1Diabetes Mellitus
03/2016
1Neurologic Manifestations (Neurological Manifestations)
01/2016
1Inflammatory Bowel Diseases (Inflammatory Bowel Disease)
01/2016
1Rare Diseases (Rare Disease)
12/2014
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
11/2013
1VLCAD deficiency
12/2012
1Cerebellar Diseases (Cerebellar Syndrome)
12/2012
1Kearns-Sayre Syndrome
12/2012
1Carcinogenesis
11/2012
1Osteosarcoma (Osteogenic Sarcoma)
09/2012
1Disease Progression
01/2012
1Pneumonia (Pneumonitis)
01/2012
1Cerebellar Ataxia (Dysmetria)
06/2011
1Hypertrophy
03/2011
1Body Weight (Weight, Body)
08/2010

Drug/Important Bio-Agent (IBA)

9FrataxinIBA
01/2017 - 10/2006
5idebenoneIBA
02/2012 - 10/2003
4Biomarkers (Surrogate Marker)IBA
01/2021 - 09/2012
4Mitochondrial Proteins (Mitochondrial Protein)IBA
01/2017 - 10/2010
2SynucleinsIBA
09/2021 - 01/2021
2alpha-tocotrienol quinoneIBA
12/2012 - 01/2012
2quinone (benzoquinone)IBA
12/2012 - 01/2012
2Mitochondrial DNA (mtDNA)IBA
12/2012 - 01/2012
2Pharmaceutical PreparationsIBA
08/2010 - 10/2003
1Growth Hormone (Somatotropin)IBA
01/2016
1dyclonine (Sucrets)FDA Link
12/2014
1polyglutamineIBA
11/2013
1Proteins (Proteins, Gene)FDA Link
12/2012
1Adenosine Triphosphate (ATP)IBA
12/2012
1Glutathione (Reduced Glutathione)IBA
12/2012
1Sulfhydryl Compounds (Thiols)IBA
12/2012
1Methotrexate (Mexate)FDA LinkGeneric
09/2012
1Doxorubicin (Adriamycin)FDA LinkGeneric
09/2012
1Cisplatin (Platino)FDA LinkGeneric
09/2012
1Indicators and Reagents (Reagents)IBA
04/2012
1CationsIBA
06/2011
1AntioxidantsIBA
04/2008
1Histone Deacetylase InhibitorsIBA
10/2006
1Histone Deacetylases (Histone Deacetylase)IBA
10/2006
1Neurotransmitter Agents (Neurotransmitter)IBA
10/2003

Therapy/Procedure

7Therapeutics
10/2020 - 09/2004
1Drug Therapy (Chemotherapy)
09/2012
1Terminal Care (Care, Terminal)
01/2012
1Activities of Daily Living (ADL)
08/2010