eNauka - pregled
Pregled prema Projekat LGMD2D Foundation
Prikaz rezultata 1 do 5 od 5
| Godina | Naslov | Autor(i) | Tip rezultata | Mp-kat. |
|---|---|---|---|---|
| 2017 | A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. | Perić, Stojan   ; Nikodinović-Glumac, Jelena; Töpf, Ana; Savić-Pavićević, Dušanka ; Phillips, Lauren; Johnson, Katherine; Cassop-Thompson, Marcus; Xu, Liwen; Bertoli, Marta; Lek, Monkol;
MacArthur, Daniel; Brkušanin, Miloš
; Milenković, Sanja ; Milić-Rašić, Vedrana ; Banko, Bojan ; Maksimović, Ružica ; Lochmüller, Hanns; Stojanović, Vidosava ; Straub, Volker; | Article | 21M21 |
| 2020 | Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) | Fatehi, F.; Okhovat, AA; Nilipour, Y.; Mroczek, M.; Straub, V.; Topf, A.; Palibrk, Aleksa; Perić, Stojan Z. ; Rakočević-Stojanović, Vidosava M. ; Najmabadi, H.;
Nafissi, S.;
| Article | 21aM21a |
| 2024 | CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes | Maio, Nunziata; ...; Perić, Stojan Z. ; ...; (broj koautora 25) | Article | 21a+M21a+ |
| 2025 | Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets | Weisburd, Ben; ...; Perić, Stojan Z. ; ...; (broj koautora 39) | Article | 21aM21a |
| 2025 | Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models | Tedesco, Barbara; Perić, Stojan ; ...; Rakočević-Stojanović, Vidosava ; Milenković, Sanja ; ...; Ivanović, Vukan ; ...; (broj koautora 23) | Article | 21M21 |