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Molecules (Basel, Switzerland)|July 2, 2021
Quality Assessment of Wild and Cultivated Green Tea from Different Regions of ChinaMaciej Chowaniak, Marcin Niemiec, Zhiqiang Zhu, et al.
American Journal of Medical Genetics. Part A|November 16, 2019
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patientFilip Majer, Bohdan Kousal, Petr Dusek, et al.
Acta Ophthalmologica|June 14, 2020
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon diseaseBohdan Kousal, Filip Majer, Hana Vlaskova, et al.
European Journal of Human Genetics : EJHG|January 11, 2020
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencingIvana Jedličková, Maxime Cadieux-Dion, Anna Přistoupilová, et al.
Orphanet Journal of Rare Diseases|April 7, 2020
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutationsDita Musalkova, Filip Majer, Ladislav Kuchar, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|May 29, 2015
A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease alleleMaria Praggastis, Brett Tortelli, Jessie Zhang, et al.
Human Mutation|February 27, 2026
Analyses of <i>ATP7B</i> mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic DiagnosticsLenka Steiner Mrázová, Alena Vrbacká, Filip Majer, et al.
Molecular Genetics and Metabolism|July 20, 2010
A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatmentKenneth N Maclean, Jakub Sikora, Viktor Kožich, et al.
Acta Ophthalmologica|June 29, 2026
Radial outer retina reflectivity (RORR) sign in LAMP2-associated retinopathyRachael C Heath Jeffery, Bohdan Kousal, Ulrike Grünert, et al.
Kidney International|September 24, 2021
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosisJakub Sikora, Tereza Kmochová, Dita Mušálková, et al.
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