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Browsing by Project Charcot Marie Tooth Association

Showing results 1 to 3 of 3
Issue DateTitleAuthor(s)TypeМp-cat.
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+
2025Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the PhenotypeRecord, Christopher J.; ...; Perić, Stojan  ; ...; Ivanović, Vukan ; ...; (broj koautora 18)Article
21a+M21a+