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| 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 : Jalanko_2005_Neurobiol.Dis_18_226 |
| ESTHER : Jalanko_2005_Neurobiol.Dis_18_226 |
| 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 : Vesa_1995_Nature_376_584 |
| ESTHER : Vesa_1995_Nature_376_584 |
| PubMedSearch : Vesa_1995_Nature_376_584 |
| PubMedID: 7637805 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus - Hellsten_1995_Genomics_25_404 |
| Author(s) : Hellsten E , Vesa J , Heiskanen M , Makela TP , Jarvela I , Cowell JK , Mead S , Alitalo K , Palotie A , Peltonen L |
| Ref : Genomics , 25 :404 , 1995 |
| Abstract : Hellsten_1995_Genomics_25_404 |
| ESTHER : Hellsten_1995_Genomics_25_404 |
| PubMedSearch : Hellsten_1995_Genomics_25_404 |
| PubMedID: 7789974 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis - Hellsten_1993_Genomics_16_720 |
| Author(s) : Hellsten E , Vesa J , Speer MC , Makela TP , Jarvela I , Alitalo K , Ott J , Peltonen L |
| Ref : Genomics , 16 :720 , 1993 |
| Abstract : Hellsten_1993_Genomics_16_720 |
| ESTHER : Hellsten_1993_Genomics_16_720 |
| PubMedSearch : Hellsten_1993_Genomics_16_720 |
| PubMedID: 8325646 |
| 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 |