Susan Perlman

Best Publications

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

  David Herman;Kai Jenssen;Ryan Burnett;Elisabetta Soragni

  509
  Citations

• Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

  Brent L Fogel;Susan Perlman

  353
  Citations

• Mortality in Friedreich Ataxia

  Amy Y. Tsou;Erin K. Paulsen;Sarah J. Lagedrost;Susan L. Perlman

  329
  Citations

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

  Christopher M. Gomez;Randall M. Thompson;Jason T. Gammack;Susan L. Perlman

  317
  Citations

• Myelin breakdown and iron changes in Huntington's disease: pathogenesis and treatment implications.

  George Bartzokis;Po H. Lu;Todd A. Tishler;Sophia M. Fong

  317
  Citations

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

  David R. Lynch;Susan L. Perlman;Thomas Meier

  271
  Citations

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

  Haloom Rafehi;Haloom Rafehi;David J. Szmulewicz;Mark F. Bennett;Mark F. Bennett;Nara L.M. Sobreira

  270
  Citations

• Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).

  David R Lynch;Melanie P Chin;Martin B Delatycki;S H Subramony

  269
  Citations

• Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

  Brent L. Fogel;Hane Lee;Joshua L. Deignan;Samuel P. Strom

  258
  Citations

• Measuring Friedreich ataxia Complementary features of examination and performance measures

  D. R. Lynch;J. M. Farmer;A. Y. Tsou;S. Perlman

  237
  Citations

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

  Gregory M. Enns;Stephen L. Kinsman;Susan L. Perlman;Kenneth M. Spicer

  232
  Citations

• Ataxia-telangiectasia: diagnosis and treatment.

  Susan Perlman;Sara Becker-Catania;Richard A Gatti

  230
  Citations

• Spinocerebellar ataxia type 6: Frequency of the mutation and genotype-phenotype correlations

  D. H. Geschwind;S. Perlman;K. P. Figueroa;J. Karrim

  208
  Citations

• Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.

  L. P W Ranum;J. K. Lundgren;L. J. Schut;M. J. Ahrens

  194
  Citations

• Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia

  David R. Lynch;Jennifer Farmer;Lauren Hauser;Ian A. Blair

  181
  Citations

• Cardiac involvement in Friedreich's ataxia: a clinical study of 75 patients.

  John S. Child;Joseph K. Perloff;Philip M. Bach;Allan D. Wolfe

  178
  Citations

• Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; A prospective observational study

  Tetsuo Ashizawa;Karla P Figueroa;Susan L Perlman;Christopher M Gomez

  164
  Citations

• Progression of Friedreich ataxia: quantitative characterization over 5 years.

  Maya Patel;Charles J. Isaacs;Lauren Seyer;Karlla Brigatti

  157
  Citations

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

  Sarah J. Lagedrost;Sarah J. Lagedrost;Martin St. John Sutton;Meryl S. Cohen;Meryl S. Cohen;Gary M. Satou

  154
  Citations

• α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy

  Suman Dutta;Simon Hornung;Simon Hornung;Adira Kruayatidee;Katherine N. Maina

  153
  Citations