Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes by Ivan Tourtourikov, Kristiyan Dabchev, Tihomir Todorov, Teodor Angelov, Teodora Chamova, Ivailo Tournev, Tanya Kadiyska, Vanyo Mitev, Albena Todorova

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Leber’s hereditary optic neuropathy: clinical and genetic analysis of Bulgarian patients by Sylvia Cherninkova, Boryana Zaharova, Kunka Kamenarova, Kalina Mihova, Slavena Atemin, Tihomir Todorov, Vasil Haykin, Alexander Oscar, Ivailo Tournev, Radka Kaneva, Albena Todorova

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Novel variant c.92T > G (p.Val31Gly) in the PFN1 gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigree by Teodor Angelov, Teodora Chamova, Slavena Atemin, Tihomir Todorov, Slavko Ormandzhiev, Ivan Tourtourikov, Ivan Tourtourikov, Albena Todorova, Albena Todorova, David Devos, Ivailo Tournev, Ivailo Tournev

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Case Report: Transthyretin Glu54Leu—a rare mutation with predominant cardiac phenotype by Mariana Gospodinova, Sashka Zhelyazkova, Teodora Chamova, Ognyan Asenov, Zornitsa Pavlova, Tihomir Todorov, Dilyana Mikova, Yordan Palashev, Yordan Palashev, Ivan Gruev, Atanas Kundurdjiev, Atanas Kundurdjiev, Albena Todorova, Albena Todorova, Ivailo Tournev, Ivailo Tournev

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