| 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 : |
| PubMedSearch : Kalviainen_2007_Eur.J.Neurol_14_369 |
| PubMedID: 17388982 |
| Gene_locus related to this paper: human-PPT1 |
| Title : High-resolution magic angle spinning and 1H magnetic resonance spectroscopy reveal significantly altered neuronal metabolite profiles in CLN1 but not in CLN3 - Sitter_2004_J.Neurosci.Res_77_762 |
| Author(s) : Sitter B , Autti T , Tyynela J , Sonnewald U , Bathen TF , Puranen J , Santavuori P , Haltia MJ , Paetau A , Polvikoski T , Gribbestad IS , Hakkinen AM |
| Ref : Journal of Neuroscience Research , 77 :762 , 2004 |
| Abstract : |
| PubMedSearch : Sitter_2004_J.Neurosci.Res_77_762 |
| PubMedID: 15352223 |
| Title : MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients - Vanhanen_1995_J.Child.Neurol_10_444 |
| Author(s) : Vanhanen SL , Raininko R , Autti T , Santavuori P |
| Ref : Journal of Child Neurology , 10 :444 , 1995 |
| Abstract : |
| PubMedSearch : Vanhanen_1995_J.Child.Neurol_10_444 |
| PubMedID: 8576553 |
| 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 : 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 : |
| 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 |
| 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 |
| 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 |