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Sanger sequencing
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MUDr. Alžbeta Mühlbäck Ph.D.
External academic staff at First Faculty of Medicine
14 publications
Publications
publication
Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis
2020 |
First Faculty of Medicine
publication
Establishing normative data for the evaluation of cognitive performance in Huntington's disease considering the impact of gender, age, language, and education
2023 |
First Faculty of Medicine
publication
Quality of life, health-related quality of life, and associated factors in Huntington's disease: a systematic review
2023 |
First Faculty of Medicine
publication
Speech biomarkers in Huntington's disease: A cross-sectional study in pre-symptomatic, prodromal and early manifest stages
2023 |
First Faculty of Medicine
publication
What we don't need to prove but need to do in multidisciplinary treatment and care in Huntington's disease: a position paper
2023 |
First Faculty of Medicine
publication
Generation of two human iPSC lines from dermal fibroblasts of adult- and juvenile-onset Huntington's disease patients and two healthy donors
2023 |
First Faculty of Medicine
publication
Psychosocial Impact of Huntington's Disease and Incentives to Improve Care for Affected Families in the Underserved Region of the Slovak Republic
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Disease-modifying treatment approaches in Huntington disease: Past and future
2022 |
First Faculty of Medicine
publication
Generation of three human iPSC lines from patients with Huntington’s disease with different CAG lengths and human control iPSC line from a healthy donor
2022 |
First Faculty of Medicine
publication
Validation Study of a German Cognitive Battery for Huntington's Disease: Relationship Between Cognitive Performance, Functional Decline, and Disease Burden
2021 |
First Faculty of Medicine
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