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248 results on '"Reetta Kälviäinen"'

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1. Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey

2. TWINGEN: protocol for an observational clinical biobank recall and biomarker cohort study to identify Finnish individuals with high risk of Alzheimer’s disease

3. Cenobamate in refractory epilepsy: Overview of treatment options and practical considerations

4. A FinnGen pilot clinical recall study for Alzheimer’s disease

5. In depth behavioral phenotyping unravels complex motor disturbances in Cstb−/− mouse, a model for progressive myoclonus epilepsy type 1

6. Generation of a human induced pluripotent stem cell line (UEFi004-A) from a patient with progressive myoclonic epilepsy type 1 (EPM1)

7. Protocol for the development of an international Core Outcome Set for treatment trials in adults with epilepsy: the EPilepsy outcome Set for Effectiveness Trials Project (EPSET)

8. Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression

9. Progressive myoclonic epilepsy type 1 (EPM1) patients present with abnormal 1H MRS brain metabolic profiles associated with cognitive function

10. Recontacting biobank participants to collect lifestyle, behavioural and cognitive information via online questionnaires: lessons from a pilot study within FinnGen

11. Sleep apnoea is a risk factor for severe COVID-19

12. Artificial intelligence for classification of temporal lobe epilepsy with ROI-level MRI data: A worldwide ENIGMA-Epilepsy study

13. Clinical features of Parkinson’s disease patients are associated with therapeutic misconception and willingness to participate in clinical trials

14. 3D texture analysis reveals imperceptible MRI textural alterations in the thalamus and putamen in progressive myoclonic epilepsy type 1, EPM1.

15. Infertility treatment and umbilical cord length-novel markers of childhood epilepsy?

18. Risk of Midlife Stroke After Adverse Pregnancy Outcomes: The FinnGen Study

19. New insights into the genetic etiology of Alzheimer's disease and related dementias

20. Protocol for the development of an international Core Outcome Set for treatment trials in adults with epilepsy:the EPilepsy outcome Set for Effectiveness Trials Project (EPSET)

21. Adult onset epilepsy incidence in Finland over 34 years: A nationwide registry study

22. Wearable monitoring of positive and negative myoclonus in progressive myoclonic epilepsy type 1

23. Short- and long-interval intracortical inhibition in EPM1 is related to genotype

24. When is it time for palliative and end-of-life care in status epilepticus?

25. Comorbidities in patients with Unverricht-Lundborg disease (EPM1)

26. Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events

27. Impact of diagnostic delay on seizure outcome in newly diagnosed focal epilepsy

29. FinnGen: Unique genetic insights from combining isolated population and national health register data

30. Outcome of status epilepticus and the predictive value of the EMSE and STESS scores: A prospective study

31. Interpretable surface-based detection of focal cortical dysplasias: a multi-centre epilepsy lesion detection study

32. Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy

33. Atlas of lesion locations and postsurgical seizure freedom in focal cortical dysplasia:A MELD study

34. Economic Value of Adjunctive Brivaracetam Treatment Strategy for Focal Onset Seizures in Finland

35. Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression

36. Structural network alterations in focal and generalized epilepsy follow axes of epilepsy risk gene expression: An ENIGMA study

38. Topographic Divergence of Atypical Cortical Asymmetry and Regional Atrophy Patterns in Temporal Lobe Epilepsy: A Worldwide ENIGMA Study

39. Cognitive functioning in progressive myoclonus epilepsy type 1 (Unverricht-Lundborg Disease, EPM1)

40. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

41. Status epilepticus: Practice variation and adherence to treatment guideline in a large community hospital

42. MELD Project: Atlas of lesion locations and postsurgical seizure freedom in focal cortical dysplasia

43. A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies

44. Distinct gene-set burden patterns underlie common generalized and focal epilepsies

45. Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study

46. Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

47. Focal nonmotor versus motor seizures: The impact on diagnostic delay in focal epilepsy

48. Network-based atrophy modelling in the common epilepsies: a worldwide ENIGMA study

49. Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study

50. Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma <scp>POLG</scp> 1 are not associated with increased risk for valproate‐induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy

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