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Browsing by Project Muscular Dystrophy UK
Showing results 1 to 4 of 4
| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 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 |