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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations by Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier, Martin Hrebicek
Published 2020-04-01
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Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic by Petra Reková, Gabriela Dostálová, David Kemlink, Jaroslava Paulasová Schwabová, Zora Dubská, Manuela Vaneckova, Martin Mašek, Ondřej Kodet, Helena Poupětová, Stella Mazurová, Aneta Rajdova, Eva Vlckova, Alena Táboříková, Štěpánka Fafejtová, Miroslava Nevsimalova, Aleš Linhart, Aleš Tomek
Published 2021-08-01
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