Full name :
First name :
Mail :
Zip Code :
City :
Country :
Email :
Phone :
Fax :
Website :
Directory :
| 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 : Taschner_2005_Ned.Tijdschr.Geneeskd_149_300 |
| ESTHER : Taschner_2005_Ned.Tijdschr.Geneeskd_149_300 |
| PubMedSearch : Taschner_2005_Ned.Tijdschr.Geneeskd_149_300 |
| PubMedID: 15730038 |
| 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 : 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 : 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 : Taschner_1999_Mol.Genet.Metab_66_339 |
| ESTHER : Taschner_1999_Mol.Genet.Metab_66_339 |
| 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 : de Vries_1999_Prenat.Diagn_19_559 |
| ESTHER : de Vries_1999_Prenat.Diagn_19_559 |
| PubMedSearch : de Vries_1999_Prenat.Diagn_19_559 |
| PubMedID: 10416973 |
| Gene_locus related to this paper: human-PPT1 |