| Title : Missense variants in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions - Monnens_2024_JCI.Insight__e179276 |
| Author(s) : Monnens Y , Theodoropoulou A , Rosier K , Bhalla K , Mahy A , Vanhoutte R , Meulemans S , Cavani E , Antanasijevic A , Lemmens I , Lee JA , Spellicy CJ , Schroer RJ , Maselli RA , Laverty CG , Agostinis P , Pagliarini DJ , Verhelst S , Marcaida MJ , Rochtus A , Dal Peraro M , Creemers JW |
| Ref : JCI Insight , : , 2024 |
| Abstract : |
| PubMedSearch : Monnens_2024_JCI.Insight__e179276 |
| PubMedID: 39078710 |
| Gene_locus related to this paper: human-PREPL |
| Title : Missense variants in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions - Monnens_2024_JCI.Insight__e179276 |
| Author(s) : Monnens Y , Theodoropoulou A , Rosier K , Bhalla K , Mahy A , Vanhoutte R , Meulemans S , Cavani E , Antanasijevic A , Lemmens I , Lee JA , Spellicy CJ , Schroer RJ , Maselli RA , Laverty CG , Agostinis P , Pagliarini DJ , Verhelst S , Marcaida MJ , Rochtus A , Dal Peraro M , Creemers JW |
| Ref : JCI Insight , : , 2024 |
| Abstract : |
| PubMedSearch : Monnens_2024_JCI.Insight__e179276 |
| PubMedID: 39078710 |
| Gene_locus related to this paper: human-PREPL |
| Title : Missense variants in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions - Monnens_2024_JCI.Insight__e179276 |
| Author(s) : Monnens Y , Theodoropoulou A , Rosier K , Bhalla K , Mahy A , Vanhoutte R , Meulemans S , Cavani E , Antanasijevic A , Lemmens I , Lee JA , Spellicy CJ , Schroer RJ , Maselli RA , Laverty CG , Agostinis P , Pagliarini DJ , Verhelst S , Marcaida MJ , Rochtus A , Dal Peraro M , Creemers JW |
| Ref : JCI Insight , : , 2024 |
| Abstract : |
| PubMedSearch : Monnens_2024_JCI.Insight__e179276 |
| PubMedID: 39078710 |
| Gene_locus related to this paper: human-PREPL |
| Title : Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders - Boccuto_2013_Eur.J.Hum.Genet_21_310 |
| Author(s) : Boccuto L , Lauri M , Sarasua SM , Skinner CD , Buccella D , Dwivedi A , Orteschi D , Collins JS , Zollino M , Visconti P , Dupont B , Tiziano D , Schroer RJ , Neri G , Stevenson RE , Gurrieri F , Schwartz CE |
| Ref : Eur J Hum Genet , 21 :310 , 2013 |
| Abstract : |
| PubMedSearch : Boccuto_2013_Eur.J.Hum.Genet_21_310 |
| PubMedID: 22892527 |
| Title : Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders - Boccuto_2013_Eur.J.Hum.Genet_21_310 |
| Author(s) : Boccuto L , Lauri M , Sarasua SM , Skinner CD , Buccella D , Dwivedi A , Orteschi D , Collins JS , Zollino M , Visconti P , Dupont B , Tiziano D , Schroer RJ , Neri G , Stevenson RE , Gurrieri F , Schwartz CE |
| Ref : Eur J Hum Genet , 21 :310 , 2013 |
| Abstract : |
| PubMedSearch : Boccuto_2013_Eur.J.Hum.Genet_21_310 |
| PubMedID: 22892527 |
| Title : Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders - Boccuto_2013_Eur.J.Hum.Genet_21_310 |
| Author(s) : Boccuto L , Lauri M , Sarasua SM , Skinner CD , Buccella D , Dwivedi A , Orteschi D , Collins JS , Zollino M , Visconti P , Dupont B , Tiziano D , Schroer RJ , Neri G , Stevenson RE , Gurrieri F , Schwartz CE |
| Ref : Eur J Hum Genet , 21 :310 , 2013 |
| Abstract : |
| PubMedSearch : Boccuto_2013_Eur.J.Hum.Genet_21_310 |
| PubMedID: 22892527 |