Претрага

Резултати

Two novel mutations in the FHL1 gene extending the phenotypic spectrum [2017]

Strehle, Eugen-Matthias; Johnson, Katherine; Rakočević-Stojanović, Vidosava M. ; Perić, Stojan Z. ; Farrugia, Maria Ellena; Longman, Cheryl; Straub, Volker

Establishment of an international database of Titin mutations and their phenotypes - a follow up [2017]

Hackman, P; ...; Nikodinovic-Glumac, Jelena; ...; (broj, koautora 18)

Cerebral involvement and related aspects in myotonic dystrophy type 2 [2021]

Perić, Stojan Z. ; Rakočević-Stojanović, Vidosava M. ; Meola, Giovanni

Genotype-phenotype correlation in a cohort of suspected FSHD patients from Serbia [2025]

Albano, N.; Ralić, Branislav; Nuredini, A.; Costantini, Cuoghi R.; Perić, Stojan ; Tupler, R.

Screening for Pompe disease and its differential diagnoses [2024]

Sekulić, A.; Todorović, T.; Perić, Stojan ; Basta, Ivana ; Ivanović, Vukan ; Rakočević-Stojanović, Vidosava M. ; Božović, Ivo ; Palibrk, Aleksa; Virić, Vanja

Cognitive assessment in patients with myotonic dystrophy type 2 [2022]

Perić, Stojan ; Gunjić, Ilija ; Delić, Neda ; Stojiljković-Tamas, Olivera; Salak-Đokić, Biljana; Pešović, Jovan ; Petrović-Đorđević, Ivana; Ivanović, Vukan ; Savić-Pavićević, Dušanka ; Meola, Giovanni;

Rakočević-Stojanović, Vidosava ;

A recessive TTN founder mutation causes a distal myopathy phenotype in a Serbian cohort [2016]

Tonf, A.; Nikodinović-Glumac, Jelena; Perić, Stojan Z. ; Cassop-Thompson, M.; Bertoli, M.; Johnson, Katherine; Phillips, L.; MacArthur, D.; Rakočević-Stojanović, Vidosava M. ; Straub, V.

Modal allele change as a predictor of skeletal muscle symptoms progression in myotonic dystrophy type 1 [2024]

Radovanović, N.; Pešović, Jovan ; Perić, Stojan ; Radenković, Lana ; Brkušanin, Miloš ; Brajušković, Goran ; Rakočević-Stojanović, Vidosava M. ; Savić-Pavićević, Dušanka Lj.

Improving the implementation of spinal muscular atrophy (SMA) standards of care (SoC) internationally - the SMA SoC for all platform [2021]

Lilien, C; ...; Krstic, M; ...; (broj, koautora 16)

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN) [2007]

Koop, Olga; Schirmacher, Anja; Nelis, Eva; Timmerman, Vincent; De Jonghe, Peter; Ringelstein, Bernd; Milić-Rašić, Vedrana; Evrard, Philippe; Gdrtner, Jutta; Claeys, Kristl G.;

Appenzeller, Silke; Rautenstrauss, Bernd; Hiffine, Kathrin; Ramos-Arroyo, Maria A.; Wrle, Helmut; Moilanen, Jukka S.; HammanS, Simon; Kuhlenbdumer, Gregor;