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68 results on '"Reetta Hinttala"'

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

2. A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion

3. ciRS-7 and miR-7 regulate ischemia-induced neuronal death via glutamatergic signaling

4. NHLRC2 expression is increased in idiopathic pulmonary fibrosis

5. Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

6. Analysis of human brain tissue derived from DBS surgery

7. The Finnish genetic heritage in 2022 – from diagnosis to translational research

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

9. Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease

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

11. Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

12. Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder

13. Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease.

14. Mitochondrial hearing loss mutations among Finnish preterm and term-born infants

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

16. DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship?

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

18. ciRS-7-miR7 regulate ischemia induced neuronal death via glutamatergic signaling

19. Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland

20. TT2020 meeting report on the 16th Transgenic Technology Meeting

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

22. Nhlrc2 is crucial during mouse gastrulation

23. Analysis of human brain tissue derived from DBS surgery

24. NHLRC2 mRNA and protein expression in idiopathic pulmonary fibrosis

25. INFRAFRONTIER quality principles in systemic phenotyping

26. Analysis of human brain tissue derived from DBS surgery

27. Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders

28. Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

29. EOSC-Life: Building a digital space for the life sciences - D1.2 EOSC repository deployment for project demonstrators

30. Modeling rare human disorders in mice:the Finnish disease heritage

31. 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

32. Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease

33. NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) : characterisation of a novel cerebropulmonary disease

34. Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy

35. An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase

36. Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis

37. Acute liver failure after valproate exposure in patients withPOLG1mutations and the prognosis after liver transplantation

38. Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder

39. Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

40. Nodularia spumigena extract induces upregulation of mitochondrial respiratory chain complexes in spinach (Spinacia oleracea L.)

41. LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1

42. Progressive external ophthalmoplegia in Southwestern Finland: a clinical and genetic study

43. Homozygous W748S mutation in thePOLG1gene in patients with juvenile-onset Alpers syndrome and status epilepticus

44. Evaluating clinical mitochondrial respiratory chain enzymes from biopsy specimens presenting skewed probability distribution of activity data

45. Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model

46. The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I

47. Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency

48. Secondary metabolic effects in complex I deficiency

49. Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes

50. Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation

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