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International Journal of Molecular Sciences|May 27, 2026
Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease CohortZakhiriddin Khojakulov, Robin J Palvadeau, Müge Kovancılar-Koç, et al.Frontiers in Genetics|July 13, 2019
Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and CardiomyopathyArtem Kiselev, Raquel Vaz, Anastasia Knyazeva, et al.Human Mutation|June 3, 2018
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathyArtem Kiselev, Raquel Vaz, Anastasia Knyazeva, et al.Plos One|September 24, 2016
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation SequencingAnna Kostareva, Artem Kiselev, Alexandra Gudkova, et al.Plos One|March 18, 2020
Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filamentsDiana Cimiotti, Setsuko Fujita-Becker, Desirée Möhner, et al.Stem Cell Research|June 29, 2026
Establishment and characterization of two human pluripotent stem cell lines from patients with ATX-FGF14/spinocerebellar ataxia 27A (SCA27A)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.Pageof 3