| Title : Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems - Phillips_2006_Biochim.Biophys.Acta_1762_906 |
| Author(s) : Phillips SN , Muzaffar N , Codlin S , Korey CA , Taschner PE , de Voer G , Mole SE , Pearce DA |
| Ref : Biochimica & Biophysica Acta , 1762 :906 , 2006 |
| Abstract : |
| PubMedSearch : Phillips_2006_Biochim.Biophys.Acta_1762_906 |
| PubMedID: 17049819 |
| Gene_locus related to this paper: caeel-F44C4.5 , drome-CG12108 |
| Title : [From gene to disease\; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis] - Taschner_2005_Ned.Tijdschr.Geneeskd_149_300 |
| Author(s) : Taschner PE , Losekoot M , Breuning MH , Hofman I , van Diggelen OP |
| Ref : Ned Tijdschr Geneeskd , 149 :300 , 2005 |
| Abstract : |
| PubMedSearch : Taschner_2005_Ned.Tijdschr.Geneeskd_149_300 |
| PubMedID: 15730038 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease - van Diggelen_2001_Ann.Neurol_50_269 |
| Author(s) : van Diggelen OP , Thobois S , Tilikete C , Zabot MT , Keulemans JL , van Bunderen PA , Taschner PE , Losekoot M , Voznyi YV |
| Ref : Annals of Neurology , 50 :269 , 2001 |
| Abstract : |
| PubMedSearch : van Diggelen_2001_Ann.Neurol_50_269 |
| PubMedID: 11506414 |
| Gene_locus related to this paper: human-PPT1 |
| 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 : |
| PubMedSearch : Mole_2001_Eur.J.Paediatr.Neurol_5 Suppl A_7 |
| PubMedID: 11589012 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Genetic heterogeneity of neuronal ceroid lipofuscinosis in The Netherlands - Taschner_1999_Mol.Genet.Metab_66_339 |
| Author(s) : Taschner PE , Franken PF , van Berkel L , Breuning MH |
| Ref : Mol Genet Metab , 66 :339 , 1999 |
| Abstract : |
| PubMedSearch : Taschner_1999_Mol.Genet.Metab_66_339 |
| PubMedID: 10191126 |
| Title : First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis - de Vries_1999_Prenat.Diagn_19_559 |
| Author(s) : de Vries BB , Kleijer WJ , Keulemans JL , Voznyi YV , Franken PF , Eurlings MC , Galjaard RJ , Losekoot M , Catsman-Berrevoets CE , Breuning MH , Taschner PE , van Diggelen OP |
| Ref : Prenat Diagn , 19 :559 , 1999 |
| Abstract : |
| PubMedSearch : de Vries_1999_Prenat.Diagn_19_559 |
| PubMedID: 10416973 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Mutations in the palmitoyl-protein thioesterase gene (PPT\; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits - Mitchison_1998_Hum.Mol.Genet_7_291 |
| Author(s) : Mitchison HM , Hofmann SL , Becerra CH , Munroe PB , Lake BD , Crow YJ , Stephenson JB , Williams RE , Hofman IL , Taschner PE , Martin JJ , Philippart M , Andermann E , Andermann F , Mole SE , Gardiner RM , O'Rawe AM |
| Ref : Hum Mol Genet , 7 :291 , 1998 |
| Abstract : |
| PubMedSearch : Mitchison_1998_Hum.Mol.Genet_7_291 |
| PubMedID: 9425237 |
| Gene_locus related to this paper: human-PPT1 |