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Mészárosová, Anna Uhrová
23  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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15

Biallelic variants in HPDL cause pure and complicated hered..:

Wiessner, Manuela ; Maroofian, Reza ; Ni, Meng-Yuan...
qt3zq3c14v.  , 2021
Link: https://escholarship.org..
 
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