Search Results - "Danielsson, Annika"
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The clinical spectrum of ataxia telangiectasia in a cohort in Sweden
Published in Heliyon (29-02-2024)“…Ataxia telangiectasia (A-T), caused by biallelic variants in the ATM gene, is a multisystemic and severe syndrome characterized by progressive ataxia,…”
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Journal Article -
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Rare Pediatric Movement Disorders: Clinical Aspects of Genotype, Phenotype, and Assessment
Published 01-01-2022“…Pediatric movement disorders are defined by an impaired ability to initiate and control movements. Dystonia, one of these disorders, may cause a life-long…”
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Dissertation -
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The Dyskinesia Impairment Scale, Second Edition: Development, construct validity, and reliability
Published in Developmental medicine and child neurology (01-05-2023)“…Aim To create a shortened, more user‐friendly Second Edition of the Dyskinesia Impairment Scale (DIS‐II) to assess dystonia and choreoathetosis, and evaluate…”
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Journal Article -
4
Benign paroxysmal torticollis of infancy does not lead to neurological sequelae
Published in Developmental medicine and child neurology (01-12-2018)“…Aim To elucidate the natural course of benign paroxysmal torticollis, the relationship of this disorder to migraine and other paroxysmal diseases, and to…”
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Journal Article -
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Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement
Published in Journal of clinical medicine (06-12-2019)“…Pallidal deep brain stimulation is an established treatment in dystonia. Available data on the effect in DYT-THAP1 dystonia (also known as DYT6 dystonia) are…”
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Journal Article -
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Reliability and Validity of the Dyskinesia Impairment Scale in Children and Young Adults with Inherited or Idiopathic Dystonia
Published in Journal of clinical medicine (11-08-2020)“…Background: The Dyskinesia Impairment Scale (DIS) is a new assessment scale for dystonia and choreoathetosis in children and youth with dyskinetic cerebral…”
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Journal Article -
7
The clinical spectrum of ataxia telangiectasia in a cohort in Sweden
Published in Heliyon (29-02-2024)“…Ataxia telangiectasia (A-T), caused by biallelic variants in the ATM gene, is a multisystemic and severe syndrome characterized by progressive ataxia,…”
Get full text
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