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Rochtus A

References (2)

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 :
PubMedSearch : Bhalla_2024_Biochim.Biophys.Acta.Mol.Basis.Dis__167175
PubMedID: 38626828

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