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Browsing by Project Muscular Dystrophy Association

Showing results 1 to 4 of 4
Issue DateTitleAuthor(s)TypeМp-cat.
2025Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in Facioscapulohumeral Dystrophy: An Observational StudyCrisafulli, Oscar; Baptista, Renato; Drid, Patrik  ; Grattarola, Luca; Bottoni, Giorgio; Lavaselli, Emanuela; Negro, Massimo; Tupler, Rossella; Quintiero, Venere; D'Antona, GiuseppeArticle
21M21
2025Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathyArmirola-Ricaurte, Camila; ...; Tomic, Aleksandra; ...; Milic-Rasic, Vedrana; (broj, koautora 20)Article
21a+M21a+
2025Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORDCortese, Andrea; ...; Perić, Stojan  ; ...; (broj koautora 81)Article
21a+M21a+
2024The GENESIS database and tools: A decade of discovery in Mendelian genomicsDanzi, Matt C.; ...; Perić, Stojan Z.  ; ...; (broj koautora 37)Article
21M21