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Mészárosová, Anna Uhrová
20
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Online (20)
Mediatypes
Articles (Online) (15)
OpenAccess-fulltext (5)
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?
1
Anterior pallidal hyperintensity mimicking the eye of the t..:
Somaya, Vinisha
;
Meszarosova, Anna Uhrova
;
Dusek, Petr
Neurological Sciences. 45 (2023) 2 - p. 799-801 , 2023
Link:
https://doi.org/10.1007/..
?
2
Expanding the phenotype spectrum associated with pathogenic..:
Čopíková, Jana
;
Paděrová, Jana
;
Románková, Věra
...
Annals of Human Genetics. 84 (2020) 5 - p. 380-392 , 2020
Link:
https://doi.org/10.1111/..
?
3
Two types of recessive hereditary spastic paraplegia in Rom..:
Meszarosova, Anna Uhrova
;
Seeman, Pavel
;
Jencik, Jan
...
Neuroscience Letters. 721 (2020) - p. 134800 , 2020
Link:
https://doi.org/10.1016/..
?
4
Spectrum and frequencies of non GJB2 gene mutations in Czec..:
Safka Brozkova, Dana
;
Poisson Marková, Simona
;
Mészárosová, Anna Uhrová
...
Clinical Genetics. 98 (2020) 6 - p. 548-554 , 2020
Link:
https://doi.org/10.1111/..
?
5
Disease‐Causing Variants in the ATL1 Gene Are a Rare Cause ..:
Mészárosová, Anna Uhrová
;
Grečmalová, Dagmar
;
Brázdilová, Michaela
...
Annals of Human Genetics. 81 (2017) 6 - p. 249-257 , 2017
Link:
https://doi.org/10.1111/..
?
6
SPAST mutation spectrum and familial occurrence among Czech..:
Mészárosová, Anna Uhrová
;
Putzová, Martina
;
Čermáková, Marie
...
Journal of Human Genetics. 61 (2016) 10 - p. 845-850 , 2016
Link:
https://doi.org/10.1038/..
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7
Biallelic variants in HPDL cause pure and complicated hered..:
Wiessner, Manuela
;
Maroofian, Reza
;
Ni, Meng-Yuan
...
Brain. 144 (2021) 5 - p. 1422-1434 , 2021
Link:
https://doi.org/10.1093/..
?
8
Erratum to: Biallelic variants in HPDL cause pure and compl..:
Wiessner, Manuela
;
Maroofian, Reza
;
Ni, Meng-Yuan
...
Brain. 144 (2021) 8 - p. e70-e70 , 2021
Link:
https://doi.org/10.1093/..
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9
Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary S..:
Schob, Claudia
;
Hempel, Maja
;
Safka Brozkova, Dana
...
Annals of Neurology. 90 (2021) 5 - p. 738-750 , 2021
Link:
https://doi.org/10.1002/..
?
10
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—..:
Safka Brozkova, Dana
;
Uhrova Meszarosova, Anna
;
Lassuthova, Petra
...
Genes. 12 (2021) 5 - p. 684 , 2021
Link:
https://doi.org/10.3390/..
?
11
Variant c.2158-2A>G in MANBA is an important and frequent c..:
Safka Brozkova, Dana
;
Varga, Lukas
;
Uhrova Meszarosova, Anna
...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
12
Autosomal recessive hereditary spastic paraplegia type SPG3..:
Uhrova Meszarosova, Anna
;
Safka Brozkova, Dana
;
Vyhnalek, Martin
...
Journal of Clinical Neuroscience. 59 (2019) - p. 337-339 , 2019
Link:
https://doi.org/10.1016/..
?
13
Genetic testing in children enrolled in epilepsy surgery pr..:
Straka, Barbora
;
Splitkova, Barbora
;
Vlckova, Marketa
...
European Journal of Paediatric Neurology. 47 (2023) - p. 80-87 , 2023
Link:
https://doi.org/10.1016/..
?
14
GATOR1-related focal cortical dysplasia in epilepsy surgery..:
Benova, Barbora
;
Sanders, Maurits W.C.B.
;
Uhrova-Meszarosova, Anna
...
European Journal of Paediatric Neurology. 30 (2021) - p. 88-96 , 2021
Link:
https://doi.org/10.1016/..
?
15
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—..:
Safka Brozkova, Dana
;
Uhrova Meszarosova, Anna
;
Lassuthova, Petra
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8147375/. , 2021
Link:
http://www.ncbi.nlm.nih...
1-15