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Tay-Sachs disease
Publication
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publication
Late-onset Tay-Sachs Disease Can Mimic Spinal Muscular Atrophy Type III - Two Case Reports
2013 |
First Faculty of Medicine
publication
Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease
2022 |
First Faculty of Medicine
publication
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease
2023 |
First Faculty of Medicine
publication
Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease
2019 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Large propeptides of fungal beta-N-acetylhexosaminidases are novel enzyme regulators that must be intracellularly processed to control activity, dimerization, and secretion into the extracellular environment
2007 |
Faculty of Science
publication
Structure of the dimeric N-glycosylated form of fungal beta-N-acetylhexosaminidase revealed by computer modeling, vibrational spectroscopy, and biochemical studies
2007 |
Faculty of Science
publication
Sequencing, cloning and high-yield expression of a fungal beta-N-acetylhexosaminidase in Pichia pastoris
2012 |
Faculty of Science
publication
Psychiatric manifestation of inborn errors of metabolism
2015 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Spinocerebellar Ataxias Type 8, 12, and 17 and Dentatorubro-Pallidoluysian Atrophy in Czech Ataxic Patients
2013 |
First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
publication
Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts
1998 |
First Faculty of Medicine