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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 : 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 : Sitter_2004_J.Neurosci.Res_77_762 |
| ESTHER : Sitter_2004_J.Neurosci.Res_77_762 |
| 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 : Vanhanen_1995_J.Child.Neurol_10_444 |
| ESTHER : Vanhanen_1995_J.Child.Neurol_10_444 |
| PubMedSearch : Vanhanen_1995_J.Child.Neurol_10_444 |
| PubMedID: 8576553 |
| Gene_locus related to this paper: human-PPT1 |