Russell L. Margolis

Best Publications

• Huntington disease: natural history, biomarkers and prospects for therapeutics

  Christopher A Ross;Elizabeth Hoppes Aylward;Edward J Wild;Douglas R Langbehn

  1113
  Citations

• Caspase Cleavage of Gene Products Associated with Triplet Expansion Disorders Generates Truncated Fragments Containing the Polyglutamine Tract

  Cheryl L. Wellington;Lisa M. Ellerby;Abigail S. Hackam;Russell L. Margolis

  712
  Citations

• Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

  Susan E. Holmes;Elizabeth E. O'Hearn;Melvin G. McInnis;Daniel A. Gorelick-Feldman

  596
  Citations

• Synaptic dysregulation in a human iPS cell model of mental disorders

  Zhexing Wen;Ha Nam Nguyen;Ziyuan Guo;Matthew A. Lalli

  593
  Citations

• Onset and rate of striatal atrophy in preclinical Huntington disease

  Elizabeth H. Aylward;B. F. Sparks;K. M. Field;V. Yallapragada

  484
  Citations

• CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

  J.-M. Lee;E.M. Ramos;J.-H. Lee;T. Gillis

  449
  Citations

• Huntington's disease gene (IT15) is widely expressed in human and rat tissues.

  S.-H. Li;G. Schilling;W.S. Young;X.-. Li

  444
  Citations

• RAN Translation in Huntington Disease

  Monica Bañez-Coronel;Fatma Ayhan;Alex D. Tarabochia;Tao Zu

  370
  Citations

• A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.

  Susan E. Holmes;Elizabeth O'Hearn;Adam Rosenblatt;Colleen Callahan

  330
  Citations

• A frameshift mutation in Disrupted in Schizophrenia 1 in an American family with schizophrenia and schizoaffective disorder.

  N A Sachs;A Sawa;S E Holmes;C A Ross

  294
  Citations

• Astrocytes generated from patient induced pluripotent stem cells recapitulate features of Huntington’s disease patient cells

  Tarja A Juopperi;Woon Ryoung Kim;Cheng-Hsuan J Chiang;Huimei Yu

  263
  Citations

• The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: Neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis

  Sébastien Holbert;Isabelle Denghien;Tamara Kiechle;Tamara Kiechle;Adam Rosenblatt

  255
  Citations

• Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA.

  Gabriele Schilling;Jonathan D. Wood;Kui Duan;Hilda H. Slunt

  248
  Citations

• Effect of Deutetrabenazine on Chorea Among Patients With Huntington Disease: A Randomized Clinical Trial

  Samuel Frank;Claudia M. Testa;David Stamler;Elise Kayson

  243
  Citations

• A natural antisense transcript at the Huntington’s disease repeat locus regulates HTT expression

  Daniel W. Chung;Dobrila D. Rudnicki;Lan Yu;Russell L. Margolis

  233
  Citations

• Genes with triplet repeats: candidate mediators of neuropsychiatric disorders.

  Christopher A. Ross;Melvin G. McInnis;Russell L. Margolis;Shi Hua Li

  221
  Citations

• Integration-free induced pluripotent stem cells derived from schizophrenia patients with a DISC1 mutation

  Chiang Ch;Su Y;Wen Z;Yoritomo N

  218
  Citations

• Trinucleotide Repeats in 202 Families With Ataxia: A Small Expanded (CAG)n Allele at the SCA17 Locus

  I Silveira;C Miranda;C Miranda;L Guimarães;M-C Moreira

  209
  Citations

• Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci.

  Dobrila D. Rudnicki;Susan E. Holmes;Mark W. Lin;Charles A. Thornton

  208
  Citations

• Differential effects of prenatal and postnatal expressions of mutant human DISC1 on neurobehavioral phenotypes in transgenic mice: evidence for neurodevelopmental origin of major psychiatric disorders.

  Y Ayhan;B Abazyan;J Nomura;R Kim

  204
  Citations