| Title : Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia - Liampas_2024_Mol.Biol.Rep_51_590 |
| Author(s) : Liampas A , Nicolaou P , Votsi C , Georghiou A , Christodoulou K , Tanteles GA , Pantzaris M |
| Ref : Mol Biol Rep , 51 :590 , 2024 |
| PubMedID: 38683245 |
| Title : Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome - Wang_2000_J.Gen.Physiol_116_449 |
| Author(s) : Wang HL , Ohno K , Milone M , Brengman JM , Evoli A , Batocchi AP , Middleton LT , Christodoulou K , Engel AG , Sine SM |
| Ref : Journal of General Physiology , 116 :449 , 2000 |
| PubMedID: 10962020 |