Zekanowski C, Golan MP, Krzyśko KA, Lipczyńska-Łojkowska W, Filipek S, Kowalska A, Rossa G, Pepłońska B, Styczyńska M, Maruszak A, Religa D, Wender M, Kulczycki J, Barcikowska M, Kuźnicki J. Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment. Exp Neurol. 2006 Jul;200(1):82-8. PubMed.

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Comments

  1. This study and others imply that some of the PS mutations may induce pathological gain-of-function phenotypes.

    View all comments by Takaomi Saido

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Mutations

  1. PSEN1 L424H
  2. PSEN1 L226F
  3. PSEN1 F177L