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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The application of biomarkers in hereditary transthyretin amyloidosis – an ongoing research project on bulgarian patients by Z. Pavlova, A. Ormandjieva, C. Georgiev, O. Asenov, A. Taneva, T. Chamova, I. Tournev, Albena Todorova

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miRNAs and related genetic biomarkers according to the WHO glioma classification: From diagnosis to future therapeutic targets by Emiliya Nikolova, Lili Laleva, Milko Milev, Toma Spiriev, Stoycho Stoyanov, Dilyan Ferdinandov, Vanyo Mitev, Albena Todorova

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CYP21A2 Intron 2 Genetic Variants Might Be Associated with the Clinical Characteristics of Women with PCOS by Ralitsa Robeva, Silvia Andonova, Tihomir Todorov, Aylin Feyzullova, Atanaska Elenkova, Georgi Kirilov, Alexey Savov, Sabina Zacharieva, 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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Diagnostic algorithm in transthyretin amyloidosis with cardiomyopathy by Mariana Gospodinova, Elena Kinova, Iana Simova, Yoto Yotov, Marina Garcheva, Galina Kirova, Kamelia Genova, Albena Todorova, Stayko Sarafov, Ivailo Tournev, Mariya Tokmakova, Vasil Velchev

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