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Sofia Ygberg

Karolinska Institutet

27

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522

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A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy

2021 Journal of Biological Chemistry
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Age-related changes in the inflammatory responses to viral infections in the central nervous system during childhood.

2021 Pediatric Research
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Authors' reply regarding "On diagnosing and treating PANS/PANDAS: Questions from a patient support group".

2021 Acta Paediatrica
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The Kynurenine Pathway is Differentially Activated in Children with Lyme Disease and Tick-Borne Encephalitis

2021
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Clinical guidance for diagnosis and management of suspected Pediatric Acute-onset Neuropsychiatric Syndrome in the Nordic countries.

2021 Acta Paediatrica
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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

2021 Genome Medicine
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Prospective Evaluation of Childhood Encephalitis: Predisposing Factors, Prevention and Outcome.

2020 Pediatric Infectious Disease Journal
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Defective membrane insertion of mutant Na,K‐ATPase, a cause of fatal epilepsy

2020 The FASEB Journal
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From cytogenetics to cytogenomics : whole genome sequencing as a comprehensive genetic test in rare disease diagnostics

2019 European Journal of Human Genetics
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From cytogenetics to cytogenomics whole genome sequencing as a comprehensive genetic test in rare disease diagnostics

2019 Molecular Cytogenetics
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