Publications by authors named "Susan L Perlman"

43Publications

Update on the Treatment of Ataxia: Medication and Emerging Therapies.

Authors:
Susan L Perlman

Neurotherapeutics 2020 Oct 6. Epub 2020 Oct 6.

Clinical Professor of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, 90095, USA.

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October 2020

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.

J Child Neurol 2018 05 2;33(6):397-404. Epub 2018 Apr 2.

1 Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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May 2018

Relationships Among Apathy, Health-Related Quality of Life, and Function in Huntington's Disease.

J Neuropsychiatry Clin Neurosci 2018 21;30(3):194-201. Epub 2018 Mar 21.

From the Departments of Health Care Sciences and Neurology, Wayne State University, Detroit (NEF); the Department of Physical Medicine and Rehabilitation, University of Michigan, Ann Arbor (NRB, NEC); the Institute of Cognitive and Clinical Neurosciences, School of Psychological Sciences, Monash University, Clayton, Victoria, Australia (JCS); the Department of Psychological and Brain Sciences, University of Massachusetts Amherst, Amherst (RR); the Departments of Neurology, Radiology, Neuroscience, Physical Therapy, and Occupational Therapy, Washington University, St. Louis (JSP, SB); the Department of Neurology, Department of Psychiatry, and Department of Psychological and Brain Sciences, University of Iowa, Iowa City (JSP); the Department of Medical and Molecular Genetics, Indiana University, Indianapolis (KQ); the Department of Psychiatry, Rutgers University Robert Wood Johnson Medical School, Piscataway, NJ (MKM); Department of Pathology, Rowan University, School of Medicine, Stratford, NJ (MKM); and the Department of Neurology, University of California Los Angeles, Los Angeles (SLP).

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November 2018

Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.

Hum Mol Genet 2017 07;26(14):2627-2633

Department of Molecular Biosciences, University of California School of Veterinary Medicine, Davis, CA 95616, USA.

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July 2017

Frataxin levels in peripheral tissue in Friedreich ataxia.

Ann Clin Transl Neurol 2015 Aug 1;2(8):831-42. Epub 2015 Jul 1.

Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104.

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August 2015

Friedreich's ataxia: the European consortium.

Lancet Neurol 2015 Feb 5;14(2):130-1. Epub 2015 Jan 5.

Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.

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February 2015

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease.

Mol Genet Metab 2012 Dec 28;107(4):690-9. Epub 2012 Sep 28.

Department of Radiology, Divisions of Pediatric Radiology & Nuclear Medicine, Lucile Packard Children's Hospital, Stanford, CA 94305, USA.

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December 2012

A review of Friedreich ataxia clinical trial results.

Authors:
Susan L Perlman

J Child Neurol 2012 Sep;27(9):1217-22

Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.

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September 2012

Childhood ataxia: clinical features, pathogenesis, key unanswered questions, and future directions.

J Child Neurol 2012 Sep 1;27(9):1095-120. Epub 2012 Aug 1.

Department of Pediatrics, Medical College of Georgia, Georgia Health Sciences University, Augusta, GA 30912, USA.

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September 2012

Clinical monitoring in a patient with Friedreich ataxia and osteogenic sarcoma.

J Child Neurol 2012 Sep 29;27(9):1159-63. Epub 2012 Jun 29.

Department of Pharmacology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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September 2012

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

Dis Model Mech 2012 Nov 26;5(6):860-9. Epub 2012 Jun 26.

Translational Medecine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67404 Illkirch, France.

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November 2012

Initial experience in the treatment of inherited mitochondrial disease with EPI-743.

Mol Genet Metab 2012 Jan 21;105(1):91-102. Epub 2011 Oct 21.

Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA 94305-5208, USA.

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January 2012

Treatment and management issues in ataxic diseases.

Authors:
Susan L Perlman

Handb Clin Neurol 2012 ;103:635-54

David Geffen School of Medicine at the University of California at Los Angeles, CA 90095, USA.

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December 2011

Ataxia-telangiectasia.

Handb Clin Neurol 2012 ;103:307-32

David Geffen School of Medicine at the University of California at Los Angeles, CA 90095, USA.

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December 2011

Mortality in Friedreich ataxia.

J Neurol Sci 2011 Aug 8;307(1-2):46-9. Epub 2011 Jun 8.

Department of Neurology, University of Pennsylvania Medical School, USA.

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August 2011

Spinocerebellar degenerations.

Authors:
Susan L Perlman

Handb Clin Neurol 2011 ;100:113-40

David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.

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July 2011

Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA).

Am Heart J 2011 Mar 31;161(3):639-645.e1. Epub 2011 Jan 31.

Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA.

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March 2011

Candidate screening of the TRPC3 gene in cerebellar ataxia.

Cerebellum 2011 Jun;10(2):296-9

MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX, UK.

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June 2011

A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia.

Arch Neurol 2010 Aug;67(8):941-7

Division of Neurology, Children's Hospital of Philadelphia, 502 Abramson Bldg, Philadelphia, PA 19104-4318, USA.

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August 2010

A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia.

Mol Genet Metab 2010 Oct-Nov;101(2-3):238-45. Epub 2010 Jul 8.

Department of Pharmacology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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January 2011

Patterns of fractional anisotropy changes in white matter of cerebellar peduncles distinguish spinocerebellar ataxia-1 from multiple system atrophy and other ataxia syndromes.

Neuroimage 2009 Aug 14;47 Suppl 2:T72-81. Epub 2009 May 14.

Department of Internal Medicine, John A. Burns School of Medicine, University of Hawaii, PO Box 4636, Honolulu, HI 96812-4636, USA.

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August 2009

Ataxias.

Authors:
Susan L Perlman

Clin Geriatr Med 2006 Nov;22(4):859-77, vii

Division of Neurogenetics, Department of Neurology, David Geffen School of Medicine at University of California, Los Angeles, 300 UCLA Medical Plaza, Suite B200, Los Angeles, CA 90095, USA.

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November 2006

Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.

Nat Chem Biol 2006 Oct 20;2(10):551-8. Epub 2006 Aug 20.

Department of Molecular Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, California 92037, USA.

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October 2006

Symptomatic and disease-modifying therapy for the progressive ataxias.

Authors:
Susan L Perlman

Neurologist 2004 Sep;10(5):275-89

David Geffen School of Medicine at the University of California, Los Angeles 90095, USA.

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September 2004

Spinocerebellar degeneration.

Authors:
Susan L Perlman

Expert Opin Pharmacother 2003 Oct;4(10):1637-41

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October 2003

Late-onset Tay-Sachs disease as a Friedreich ataxia phenocopy.

Authors:
Susan L Perlman

Arch Neurol 2002 Nov;59(11):1832; author reply 1832

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November 2002

Spinocerebellar degenerations: an update.

Authors:
Susan L Perlman

Curr Neurol Neurosci Rep 2002 Jul;2(4):331-41

Department of Neurology, UCLA School of Medicine, 300 UCLA Medical Plaza, Suite B200, Los Angeles, CA 90095, USA.

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July 2002