Karcagi V

Title : Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy - Missaglia_2025_Front.Genet_16_1642442

Author(s) : Missaglia S , Martegani E , Angelini C , Horvath R , Karcagi V , Pal E , Tavian D

Ref : Front Genet , 16 :1642442 , 2025

Abstract :

PubMedSearch : Missaglia_2025_Front.Genet_16_1642442

PubMedID: 40919432

Title : Mutation history of the roma\/gypsies - Morar_2004_Am.J.Hum.Genet_75_596

Author(s) : Morar B , Gresham D , Angelicheva D , Tournev I , Gooding R , Guergueltcheva V , Schmidt C , Abicht A , Lochmuller H , Tordai A , Kalmar L , Nagy M , Karcagi V , Jeanpierre M , Herczegfalvi A , Beeson D , Venkataraman V , Warwick Carter K , Reeve J , de Pablo R , Kucinskas V , Kalaydjieva L

Ref : American Journal of Human Genetics , 75 :596 , 2004

Abstract :

PubMedSearch : Morar_2004_Am.J.Hum.Genet_75_596

PubMedID: 15322984

Karcagi V

References (2)

1. Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy - Missaglia_2025_Front.Genet_16_1642442

2. Mutation history of the roma\/gypsies - Morar_2004_Am.J.Hum.Genet_75_596