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whole exome sequencing
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MUDr. Anna Šmídová Ph.D.
Academic staff at First Faculty of Medicine
16 publications
Publications
publication
Monogenic variants in dystonia: an exome-wide sequencing study
2020 |
First Faculty of Medicine
publication
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
2019 |
First Faculty of Medicine
publication
A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder
2018 |
First Faculty of Medicine
publication
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing
2017 |
First Faculty of Medicine
publication
The Instrumental Activities of Daily Living in Parkinson's Disease Patients Treated by Subthalamic Deep Brain Stimulation
2022 |
First Faculty of Medicine
publication
Restoration of functional network state towards more physiological condition as the correlate of clinical effects of pallidal deep brain stimulation in dystonia
2022 |
First Faculty of Medicine
publication
Atypical presentations of DYT1 dystonia with acute craniocervical onset
2021 |
First Faculty of Medicine, Second Faculty of Medicine
publication
System for Motor Evoked Potentials Acquisition and Analysis
2019 |
First Faculty of Medicine
publication
Effect of pallidal deep-brain stimulation on articulation rate in dystonia
2019 |
First Faculty of Medicine
publication
Prepulse inhibition of the blink reflex is abnormal in functional movement disorders
2019 |
First Faculty of Medicine
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