Jaana Lähdetie
Dept. Child Neurology lahdetie@utu.fi I'm retired. I work at home. ORCID identifier: https://orcid.org/0000-0002-4962-248X |
Publications
- Kehitysvammaisuutta esiintyy enemmän pojilla kuin tytöillä (2024)
- Lääkärilehti
(A1 Refereed original research article in a scientific journal) - Does the absence or presence of sleep spindles on EEG have prognostic value for cognitive outcome in children with infantile epileptic spasms syndrome? A systematic literature review (2023)
- Epileptic Disorders
(A2 Refereed review article in a scientific journal ) - Manifestations of intellectual disability, dystonia, and Parkinson's disease in an adult patient with ARX gene mutation c.558_560dup p.(Pro187dup) (2023)
- Case Reports in Genetics
(A1 Refereed original research article in a scientific journal) - Kehitysvammainen potilaana (2022) Arvio Maria, Aaltonen Seija, Lähdetie Jaana
(D6 Editorial work for a professional compilation book) - Kehitysvamman taustasyyn selvittäminen (2022) Kehitysvammainen potilaana Lähdetie Jaana
(D2 Article in a professional compilation book) - Kuinka yleisiä ovat lihastaudit Suomessa? (2021)
- Lääkärilehti
(A2 Refereed review article in a scientific journal ) - Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man (2021)
- American Journal of Medical Genetics Part A
(B1 Non-refereed article in a scientific journal) - Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome (2021)
- Clinical Case Reports
(A1 Refereed original research article in a scientific journal) - Unenaikainen aivojen sähköinen purkaustoiminta lapsen kognitiivisen suoriutumiskyvyn heikkenemisen ja käytösoireiden syynä (2021)
- Duodecim
(A1 Refereed original research article in a scientific journal) - ACTH Treatment of Infantile Spasms: Low-Moderate-Versus High-Dose, Natural Versus Synthetic ACTH-A Retrospective Cohort Study (2020)
- Pediatric Neurology
(A1 Refereed original research article in a scientific journal) - Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219ArginSLC13A5: A case report (2020)
- American Journal of Medical Genetics Part A
(B1 Non-refereed article in a scientific journal) - Non-invasive therapeutic brain stimulation for treatment of resistant focal epilepsy in a teenager (2020)
- Clinical neurophysiology practice
(A1 Refereed original research article in a scientific journal) - Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness (2020)
- Genetics in Medicine
(A1 Refereed original research article in a scientific journal) - Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB) (2019)
- American Journal of Medical Genetics Part A
(A1 Refereed original research article in a scientific journal) - Newborns, infants and epilepsy - the missing piece of software (2018)
- Finnish Journal of eHealth and eWelfare
(B1 Non-refereed article in a scientific journal) - 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 (2018)
- Epilepsia
(A1 Refereed original research article in a scientific journal) - Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database (2017)
- Journal of Neuromuscular Diseases
(A1 Refereed original research article in a scientific journal) - The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations (2015)
- Human Mutation
(A1 Refereed original research article in a scientific journal) - Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe (2014)
- Journal of Neurology
(A1 Refereed original research article in a scientific journal) - The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. (2013)
- Human Mutation
(A1 Refereed original research article in a scientific journal)