| Title : Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers - Mohammadi_2023_Clin.Case.Rep_11_e8062 |
| Author(s) : Mohammadi MF , Fateh ST , Aghajani H , Bahramy A , Zaheryani SMS , Behroozi J , Kahani SM , Mohammadi P , Garshasbi M |
| Ref : Clin Case Rep , 11 :e8062 , 2023 |
| Abstract : |
| PubMedSearch : Mohammadi_2023_Clin.Case.Rep_11_e8062 |
| PubMedID: 37881193 |
| Title : Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients - Dehnavi_2023_Orphanet.J.Rare.Dis_18_177 |
| Author(s) : Dehnavi AZ , Bemanalizadeh M , Kahani SM , Ashrafi MR , Rohani M , Toosi MB , Heidari M , Hosseinpour S , Amini B , Zokaei S , Rezaei Z , Aryan H , Amanat M , Vahidnezhad H , Mohammadi P , Garshasbi M , Tavasoli AR |
| Ref : Orphanet J Rare Dis , 18 :177 , 2023 |
| Abstract : |
| PubMedSearch : Dehnavi_2023_Orphanet.J.Rare.Dis_18_177 |
| PubMedID: 37403138 |
| Title : Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12 - Daneshi_2023_BMC.Med.Genomics_16_235 |
| Author(s) : Daneshi A , Garshasbi M , Farhadi M , Falavarjani KG , Vafaee-Shahi M , Almadani N , Zabihi M , Ghalavand MA , Falah M |
| Ref : BMC Med Genomics , 16 :235 , 2023 |
| Abstract : |
| PubMedSearch : Daneshi_2023_BMC.Med.Genomics_16_235 |
| PubMedID: 37803361 |
| Gene_locus related to this paper: human-ABHD12 |