| 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 : Analysis of four neuroligin genes as candidates for autism - Ylisaukko-oja_2005_Eur.J.Hum.Genet_13_1285 |
| Author(s) : Ylisaukko-oja T , Rehnstrom K , Auranen M , Vanhala R , Alen R , Kempas E , Ellonen P , Turunen JA , Makkonen I , Riikonen R , Nieminen-von Wendt T , von Wendt L , Peltonen L , Jarvela I |
| Ref : Eur J Hum Genet , 13 :1285 , 2005 |
| Abstract : |
| PubMedSearch : Ylisaukko-oja_2005_Eur.J.Hum.Genet_13_1285 |
| PubMedID: 16077734 |
| Gene_locus related to this paper: human-NLGN4Y , human-NLGN1 , human-NLGN3 , human-NLGN4X |
| Title : Expression of palmitoyl protein thioesterase in neurons - Heinonen_2000_Mol.Genet.Metab_69_123 |
| Author(s) : Heinonen O , Kyttala A , Lehmus E , Paunio T , Peltonen L , Jalanko A |
| Ref : Mol Genet Metab , 69 :123 , 2000 |
| Abstract : |
| PubMedSearch : Heinonen_2000_Mol.Genet.Metab_69_123 |
| PubMedID: 10720439 |
| Title : Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL\;CLN1) - Salonen_2000_Hum.Mutat_15_273 |
| Author(s) : Salonen T , Jarvela I , Peltonen L , Jalanko A |
| Ref : Hum Mutat , 15 :273 , 2000 |
| Abstract : |
| PubMedSearch : Salonen_2000_Hum.Mutat_15_273 |
| PubMedID: 10679943 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Expression of palmitoyl protein thioesterase in neurons. - |
| Author(s) : Heinonen O , Kyttala A , Lehmus E , Paunio T , Peltonen L , Jalanko A |
| Ref : Molec Genet Metab , 69 :123 , 2000 |
| PubMedID: |
| Gene_locus related to this paper: human-PPT1 |
| Title : Mouse palmitoyl protein thioesterase: gene structure and expression of cDNA - Salonen_1998_Genome.Res_8_724 |
| Author(s) : Salonen T , Hellsten E , Horelli-Kuitunen N , Peltonen L , Jalanko A |
| Ref : Genome Res , 8 :724 , 1998 |
| Abstract : |
| PubMedSearch : Salonen_1998_Genome.Res_8_724 |
| PubMedID: 9685319 |
| Gene_locus related to this paper: mouse-ppt |
| Title : Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis - Hellsten_1996_Embo.j_15_5240 |
| Author(s) : Hellsten E , Vesa J , Olkkonen VM , Jalanko A , Peltonen L |
| Ref : EMBO j , 15 :5240 , 1996 |
| Abstract : |
| PubMedSearch : Hellsten_1996_Embo.j_15_5240 |
| PubMedID: 8895569 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene - Isoniemi_1995_Hum.Mutat_5_318 |
| Author(s) : Isoniemi A , Hietala M , Aula P , Jalanko A , Peltonen L |
| Ref : Hum Mutat , 5 :318 , 1995 |
| Abstract : |
| PubMedSearch : Isoniemi_1995_Hum.Mutat_5_318 |
| PubMedID: 7627186 |
| 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 : |
| PubMedSearch : Hellsten_1995_Genomics_25_404 |
| PubMedID: 7789974 |
| Gene_locus related to this paper: human-PPT1 |
| 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 : 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 : |
| 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 |
| Title : Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses - Jokiaho_1990_Genomics_8_391 |
| Author(s) : Jokiaho I , Puhakka L , Santavuori P , Manninen T , Nyman K , Peltonen L |
| Ref : Genomics , 8 :391 , 1990 |
| Abstract : |
| PubMedSearch : Jokiaho_1990_Genomics_8_391 |
| PubMedID: 2249855 |
| Gene_locus related to this paper: human-PPT1 |