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HSPs
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RNDr. Anna Uhrová Mészárosová
Academic staff at Second Faculty of Medicine
21 publications
Publications
publication
SPG11: clinical and genetic features of seven Czech patients and literature review
2022 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
2021 |
Second Faculty of Medicine
publication
Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
2021 |
Second Faculty of Medicine
publication
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found
2020 |
Second Faculty of Medicine
publication
Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient
2019 |
Second Faculty of Medicine
publication
Genetics of hereditary spastic paraplegias
2019 |
Second Faculty of Medicine
publication
Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients
2017 |
Second Faculty of Medicine
publication
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia
2016 |
Second Faculty of Medicine
publication
Hereditary spastic paraplegias: clinical and genetic aspects
2016 |
Second Faculty of Medicine
publication
Anterior pallidal hyperintensity mimicking the eye of the tiger sign in spastic paraplegia type 7
2024 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
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