Louis J. Ptáček

Research.com Recognitions

• 2015 - Fellow of the American Association for the Advancement of Science (AAAS)
• 2012 - Member of the National Academy of Sciences
• 2008 - Fellow of the American Academy of Arts and Sciences
• 2007 - Member of the National Academy of Medicine (NAM)
• Member of the Association of American Physicians
• Member of the Association of American Physicians
• Member of the Association of American Physicians
• Member of the Association of American Physicians

Overview

Best Publications

• An hPer2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome

  Kong L. Toh;Christopher R. Jones;Yan He;Erik J. Eide

  1772
  Citations

• Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

  Nikki M. Plaster;Rabi Tawil;Martin Tristani-Firouzi;Sonia Canún

  1148
  Citations

• Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome

  Ying Xu;Quasar S. Padiath;Robert E. Shapiro;Christopher R. Jones

  958
  Citations

• Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans

  Christopher R. Jones;Scott S. Campbell;Stephanie E. Zone;Fred Cooper

  656
  Citations

• Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

  Martin Tristani-Firouzi;Judy L. Jensen;Matthew R. Donaldson;Valeria Sansone

  649
  Citations

• Sex increases the efficacy of natural selection in experimental yeast populations

  Matthew R. Goddard;Matthew R. Goddard;H. Charles J. Godfray;Austin Burt

  554
  Citations

• Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

  Louis J. Ptáček;Rabi Tawil;Robert C. Griggs;Andrew G. Engel

  525
  Citations

• Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

  Louis J. Ptáček;Alfred L. George;Robert C. Griggs;Rabi Tawil

  481
  Citations

• Lamin B1 duplications cause autosomal dominant leukodystrophy

  Quasar S Padiath;Kazumasa Saigoh;Kazumasa Saigoh;Raphael Schiffmann;Hideaki Asahara

  472
  Citations

• Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia New diagnostic criteria

  M. K. Bruno;M. Hallett;K. Gwinn-Hardy;B. Sorensen

  465
  Citations

• De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

  Erin L Heinzen;Kathryn J Swoboda;Yuki Hitomi;Fiorella Gurrieri

  457
  Citations

• Modeling of a Human Circadian Mutation Yields Insights into Clock Regulation by PER2

  Y. Xu;K. L. Toh;C. R. Jones;Ji-Yeon Shin

  442
  Citations

• Andersen's syndrome : potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features

  Rabi Tawil;Louis J. Ptacek;Steven G. Pavlakis;Darryl C. DeVivo

  426
  Citations

• The primary periodic paralyses: diagnosis, pathogenesis and treatment

  S. L. Venance;S. C. Cannon;D. Fialho;B. Fontaine

  422
  Citations

• MiRP2 Forms Potassium Channels in Skeletal Muscle with Kv3.4 and Is Associated with Periodic Paralysis

  Geoffrey W Abbott;Margaret H Butler;Saïd Bendahhou;Marinos C Dalakas

  392
  Citations

• Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15–13 and 3q25.2–27

  H. D. Craig;M. Günel;M. Günel;O. Cepeda;E. W. Johnson

  390
  Citations

• Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations

  Christina L. Liquori;Michel J. Berg;Adrian M. Siegel;Elizabeth Huang

  361
  Citations

• Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

  Devon P. Ryan;Magnus R. Dias da Silva;Tuck Wah Soong;Bertrand Fontaine

  353
  Citations

• Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

  L.J. Ptacek;M.F. Leppert;R. Tawil

  0
  Citations

• Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's Syndrome

  N Plaster;R Tawil;M Tristani-Firouzi;S Canun

  0
  Citations