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| Title : Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency - Kalviainen_2007_Eur.J.Neurol_14_369 |
| Author(s) : Kalviainen R , Eriksson K , Losekoot M , Sorri I , Harvima I , Santavuori P , Jarvela I , Autti T , Vanninen R , Salmenpera T , van Diggelen OP |
| Ref : Eur Journal of Neurology , 14 :369 , 2007 |
| Abstract : Kalviainen_2007_Eur.J.Neurol_14_369 |
| ESTHER : Kalviainen_2007_Eur.J.Neurol_14_369 |
| PubMedSearch : Kalviainen_2007_Eur.J.Neurol_14_369 |
| PubMedID: 17388982 |
| Gene_locus related to this paper: human-PPT1 |
| 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 : Ylisaukko-oja_2005_Eur.J.Hum.Genet_13_1285 |
| ESTHER : Ylisaukko-oja_2005_Eur.J.Hum.Genet_13_1285 |
| 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 : New mutations in the neuronal ceroid lipofuscinosis genes - Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| Author(s) : Mole SE , Zhong NA , Sarpong A , Logan WP , Hofmann S , Yi W , Franken PF , van Diggelen OP , Breuning MH , Moroziewicz D , Ju W , Salonen T , Holmberg V , Jarvela I , Taschner PE |
| Ref : Eur J Paediatr Neurol , 5 Suppl A :7 , 2001 |
| Abstract : Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| ESTHER : Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| PubMedSearch : Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| PubMedID: 11589012 |
| Gene_locus related to this paper: human-PPT1 |
| 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 : Salonen_2000_Hum.Mutat_15_273 |
| ESTHER : Salonen_2000_Hum.Mutat_15_273 |
| PubMedSearch : Salonen_2000_Hum.Mutat_15_273 |
| PubMedID: 10679943 |
| 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 : Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus - Jarvela_1991_Genomics_10_333 |
| Author(s) : Jarvela I |
| Ref : Genomics , 10 :333 , 1991 |
| Abstract : Jarvela_1991_Genomics_10_333 |
| ESTHER : Jarvela_1991_Genomics_10_333 |
| PubMedSearch : Jarvela_1991_Genomics_10_333 |
| PubMedID: 2071142 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1 - Jarvela_1991_Genomics_9_170 |
| Author(s) : Jarvela I , Schleutker J , Haataja L , Santavuori P , Puhakka L , Manninen T , Palotie A , Sandkuijl LA , Renlund M , White R , et al. |
| Ref : Genomics , 9 :170 , 1991 |
| Abstract : Jarvela_1991_Genomics_9_170 |
| ESTHER : Jarvela_1991_Genomics_9_170 |
| PubMedSearch : Jarvela_1991_Genomics_9_170 |
| PubMedID: 1672288 |
| 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 |