biomedicina slovenica

"MITOCHONDRIAL MYOPATHIES" : 7

1. Babić Božović Ivana; Maver Aleš; Leonardis Lea; Meznarič Marija; Osredkar Damjan; Peterlin Borut
   Diagnostic yield of exome sequencing in myopathies
   2021 ►
2. Kalko Sabina Graciela; Paco Sonia; Jou Cristina; Angels Rodríguez Maria; Meznarič Marija; Rogač Mihael; Jekovec-Vrhovšek Maja; Sciacco Monica; Moggio Maurizio; Fagiolari Gigiola
   Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies
   2014 ►
3. Spinazzola A; Invernizzi F; Carrara F; Lamantea E; Donati A; Dirocco M; Giordano I; Meznaric-Petrusa M; Baruffini E; Ferrero I; Zeviani M
   Clinical and molecular features of mitochondrial DNA depletion syndromes
   2009 ►
4. Rozman Janez; Bunc Matjaž; Zupan Anton
   Evaluation of the torque development by the elbow flexors in patients with neuromuscular diseases
   2001 ►
5. Jarc Martina; Zidar Janez; Drnovšek-Olup Brigita; Hawlina Marko; Popović Petra
   Progresivna eksterna oftalmoplegija (PEO), diagnostika in zdravljenje
   [Progressive external ophthalmoplegia (PEO), diagnostic and treatment]
   1997 ►
6. Frelih Jana
   Mitohondrijske bolezni
   [Mitochondrial diseases]
   1998 ►
7. Arbustini Eloisa; Morbini Patrizia; Diegoli Marta
   Mitochondrial DNA mutations in cardiomyopathies
   1998 ►

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