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| Title : Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome - Bhalla_2024_Biochim.Biophys.Acta.Mol.Basis.Dis__167175 |
| Author(s) : Bhalla K , Rosier K , Monnens Y , Meulemans S , Vervoort E , Thorrez L , Agostinis P , Meier DT , Rochtus A , Resnick JL , Creemers JWM |
| Ref : Biochimica & Biophysica Acta Mol Basis Dis , :167175 , 2024 |
| Abstract : Bhalla_2024_Biochim.Biophys.Acta.Mol.Basis.Dis__167175 |
| ESTHER : Bhalla_2024_Biochim.Biophys.Acta.Mol.Basis.Dis__167175 |
| PubMedSearch : Bhalla_2024_Biochim.Biophys.Acta.Mol.Basis.Dis__167175 |
| PubMedID: 38626828 |
| Title : PREPL deficiency: delineation of the phenotype and development of a functional blood assay - Regal_2018_Genet.Med_20_109 |
| Author(s) : Regal L , Martensson E , Maystadt I , Voermans N , Lederer D , Burlina A , Juan Fita MJ , Hoogeboom AJM , Olsson Engman M , Hollemans T , Schouten M , Meulemans S , Jonson T , Francois I , Gil Ortega D , Kamsteeg EJ , Creemers JWM |
| Ref : Genet Med , 20 :109 , 2018 |
| Abstract : Regal_2018_Genet.Med_20_109 |
| ESTHER : Regal_2018_Genet.Med_20_109 |
| PubMedSearch : Regal_2018_Genet.Med_20_109 |
| PubMedID: 28726805 |
| Gene_locus related to this paper: human-PREPL |
| Title : PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome - Regal_2014_Neurology_82_1254 |
| Author(s) : Regal L , Shen XM , Selcen D , Verhille C , Meulemans S , Creemers JW , Engel AG |
| Ref : Neurology , 82 :1254 , 2014 |
| Abstract : Regal_2014_Neurology_82_1254 |
| ESTHER : Regal_2014_Neurology_82_1254 |
| PubMedSearch : Regal_2014_Neurology_82_1254 |
| PubMedID: 24610330 |
| Gene_locus related to this paper: human-PREPL |
| Title : Two novel deletions in hypotonia-cystinuria syndrome - Regal_2012_Mol.Genet.Metab_107_614 |
| Author(s) : Regal L , Aydin HI , Dieltjens AM , Van Esch H , Francois I , Okur I , Zeybek C , Meulemans S , Van Mol C , Van Bruwaene L , Then SH , Jaeken J , Creemers J |
| Ref : Mol Genet Metab , 107 :614 , 2012 |
| Abstract : Regal_2012_Mol.Genet.Metab_107_614 |
| ESTHER : Regal_2012_Mol.Genet.Metab_107_614 |
| PubMedSearch : Regal_2012_Mol.Genet.Metab_107_614 |
| PubMedID: 22796000 |
| Gene_locus related to this paper: human-PREPL |
| Title : Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome - Chabrol_2009_BMJ.Case.Rep_2009_ |
| Author(s) : Chabrol B , Martens K , Meulemans S , Cano A , Jaeken J , Matthijs G , Creemers JW |
| Ref : BMJ Case Rep , 2009 : , 2009 |
| Abstract : Chabrol_2009_BMJ.Case.Rep_2009_ |
| ESTHER : Chabrol_2009_BMJ.Case.Rep_2009_ |
| PubMedSearch : Chabrol_2009_BMJ.Case.Rep_2009_ |
| PubMedID: 21686663 |
| Title : Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome - Chabrol_2008_J.Med.Genet_45_314 |
| Author(s) : Chabrol B , Martens K , Meulemans S , Cano A , Jaeken J , Matthijs G , Creemers JW |
| Ref : Journal of Medical Genetics , 45 :314 , 2008 |
| Abstract : Chabrol_2008_J.Med.Genet_45_314 |
| ESTHER : Chabrol_2008_J.Med.Genet_45_314 |
| PubMedSearch : Chabrol_2008_J.Med.Genet_45_314 |
| PubMedID: 18234729 |
| Gene_locus related to this paper: human-PREPL |
| Title : Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome - Martens_2007_Eur.J.Hum.Genet_15_1029 |
| Author(s) : Martens K , Heulens I , Meulemans S , Zaffanello M , Tilstra D , Hes FJ , Rooman R , Francois I , de Zegher F , Jaeken J , Matthijs G , Creemers JW |
| Ref : Eur J Hum Genet , 15 :1029 , 2007 |
| Abstract : Martens_2007_Eur.J.Hum.Genet_15_1029 |
| ESTHER : Martens_2007_Eur.J.Hum.Genet_15_1029 |
| PubMedSearch : Martens_2007_Eur.J.Hum.Genet_15_1029 |
| PubMedID: 17579669 |
| Gene_locus related to this paper: human-PREPL |
| Title : PREPL: a putative novel oligopeptidase propelled into the limelight - Martens_2006_Biol.Chem_387_879 |
| Author(s) : Martens K , Derua R , Meulemans S , Waelkens E , Jaeken J , Matthijs G , Creemers JW |
| Ref : Biol Chem , 387 :879 , 2006 |
| Abstract : Martens_2006_Biol.Chem_387_879 |
| ESTHER : Martens_2006_Biol.Chem_387_879 |
| PubMedSearch : Martens_2006_Biol.Chem_387_879 |
| PubMedID: 16913837 |
| Gene_locus related to this paper: human-PREPL |
| Title : Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome - Jaeken_2006_Am.J.Hum.Genet_78_38 |
| Author(s) : Jaeken J , Martens K , Francois I , Eyskens F , Lecointre C , Derua R , Meulemans S , Slootstra JW , Waelkens E , de Zegher F , Creemers JW , Matthijs G |
| Ref : American Journal of Human Genetics , 78 :38 , 2006 |
| Abstract : Jaeken_2006_Am.J.Hum.Genet_78_38 |
| ESTHER : Jaeken_2006_Am.J.Hum.Genet_78_38 |
| PubMedSearch : Jaeken_2006_Am.J.Hum.Genet_78_38 |
| PubMedID: 16385448 |
| Gene_locus related to this paper: human-PREPL |