Search Results - "Necpal, J"

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    Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders by Pavelekova, P., Necpal, J., Jech, R., Havrankova, P., Svantnerova, J., Jurkova, V., Gdovinova, Z., Lackova, A., Han, V., Winkelmann, J., Zech, M., Skorvanek, M.

    Published in Parkinsonism & related disorders (01-06-2023)
    “…Cerebral palsy (CP) is a group of permanent disorders attributed to non-progressive disturbances that occurred in the developing fetal or infant brain…”
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    Journal Article
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    PSP-Richardson syndrome mimics: An overview and pragmatic approach by Necpál, J., Borsek, M., Jeleňová, B.

    Published in Revue neurologique (01-01-2024)
    “…•PSP can be mimicked by numbers of other disorders, known as PSP mimics.•Some of these diseases are treatable.•We have tried to create a definition of…”
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    Journal Article
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    A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report by Grofik, M, Cibulka, M, OlekÅ¡áková, J, Turcanová KopruÅ¡áková, M, Galanda, T, Necpál, J, Jungová, P, Kurca, E, Winkelmann, J, Zech, M, Jech, R

    Published in BMC neurology (12-09-2022)
    “…Abstract Background DYT6 dystonia belongs to a group of isolated, genetically determined, generalized dystonia associated with mutations in the THAP1 gene…”
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    Journal Article
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    Applications of the European Parkinson’s Disease Association sponsored Parkinson’s Disease Composite Scale (PDCS) by Balestrino, Roberta, Hurtado-Gonzalez, Carlos Alberto, Stocchi, Fabrizio, Radicati, Fabiana Giada, Chaudhuri, K. Ray, Rodriguez-Blazquez, Carmen, Martinez-Martin, Pablo

    Published in NPJ Parkinson's Disease (27-11-2019)
    “…This study was addressed to determine the presence of Parkinson disease (PD) manifestations, their distribution according to motor subtypes, and the…”
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    Journal Article
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    Visualisation of Parkinsonian, essential and physiological tremor planes in 3Dspace by Jombík, P., Spodniak, P., Bahýľ, V., Necpál, J.

    Published in Physiological research (30-04-2020)
    “…Based on the fact that tremors display some distinct 3D spatial characteristics, we decided to visualise tremor planes in 3D space. We obtained 3-axial linear…”
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    Journal Article
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    TorsinA-interacting protein 2 (TOR1AIP2) variants in an autosomal dominant combined dystonia-hemichorea-hemiballismus syndrome in two families by Kafantari, E., Hernandez, V.J., Necpál, J., Leonidou, M., Baureder, R., Jech, R., Zech, M., Schwartz, T.U., Puschmann, A.

    Published in Parkinsonism & related disorders (01-05-2024)
    “…Background: Combined movement disorders often represent a diagnostic challenge. Dystonia is a movement disorder characterized by genetic and clinical…”
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    Journal Article Conference Proceeding
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    Visualisation of Parkinsonian, essential and physiological tremor planes in 3Dspace by Jombík, P, Spodniak, P, Bahýľ, V, Necpál, J

    Published in Physiological research (30-04-2020)
    “…Based on the fact that tremors display some distinct 3D spatial characteristics, we decided to visualise tremor planes in 3D space. We obtained 3-axial linear…”
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    Journal Article