Search Results - "Necpal, J"
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Correction: A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report
Published in BMC neurology (03-11-2022)Get full text
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Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders
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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PSP-Richardson syndrome mimics: An overview and pragmatic approach
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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A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report
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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Extensive validation study of the Parkinson's Disease Composite Scale
Published in European journal of neurology (01-10-2019)“…Background and purpose A composite instrument able to rapidly and reliably assess the most relevant motor and non‐motor afflictions suffered by Parkinson's…”
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Applications of the European Parkinson’s Disease Association sponsored Parkinson’s Disease Composite Scale (PDCS)
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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Visualisation of Parkinsonian, essential and physiological tremor planes in 3Dspace
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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TorsinA-interacting protein 2 (TOR1AIP2) variants in an autosomal dominant combined dystonia-hemichorea-hemiballismus syndrome in two families
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
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