Title : Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons - Jalanko_2005_Neurobiol.Dis_18_226 |
Author(s) : Jalanko A , Vesa J , Manninen T , von Schantz C , Minye H , Fabritius AL , Salonen T , Rapola J , Gentile M , Kopra O , Peltonen L |
Ref : Neurobiol Dis , 18 :226 , 2005 |
Abstract : |
PubMedSearch : Jalanko_2005_Neurobiol.Dis_18_226 |
PubMedID: 15649713 |
Gene_locus related to this paper: mouse-ppt |
Title : Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis - Vesa_1995_Nature_376_584 |
Author(s) : Vesa J , Hellsten E , Verkruyse LA , Camp LA , Rapola J , Santavuori P , Hofmann SL , Peltonen L |
Ref : Nature , 376 :584 , 1995 |
Abstract : |
PubMedSearch : Vesa_1995_Nature_376_584 |
PubMedID: 7637805 |
Gene_locus related to this paper: human-PPT1 |
Title : Assignment of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1) to the short arm of chromosome 1 (Abstract) - |
Author(s) : Jarvela I , Santavuori P , Vesa J , Rapola J , Palotie A , Peltonen L |
Ref : Cytogenet Cell Genet , 58 :1856 , 1991 |
PubMedID: |
Gene_locus related to this paper: human-PPT1 |
Title : Infantile type of so-called neuronal ceroid-lipofuscinosis - |
Author(s) : Santavuori P , Haltia M , Rapola J |
Ref : Dev Med Child Neurol , 16 :644 , 1974 |
PubMedID: 4371326 |
Gene_locus related to this paper: human-PPT1 |
Title : Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients - |
Author(s) : Santavuori P , Haltia M , Rapola J , Raitta C |
Ref : Journal of Neurology Sci , 18 :257 , 1973 |
PubMedID: 4698309 |
Gene_locus related to this paper: human-PPT1 |
Title : Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies - |
Author(s) : Haltia M , Rapola J , Santavuori P , Keranen A |
Ref : Journal of Neurology Sci , 18 :269 , 1973 |
PubMedID: 4121459 |
Gene_locus related to this paper: human-PPT1 |