Jaana Lähdetie - UTU Research Portal

Jaana Lähdetie

- Docent,
Faculty of Medicine (University of Turku)

Dept. Child Neurology

lahdetie@utu.fi

I'm retired. I work at home.

ORCID identifier: https://orcid.org/0000-0002-4962-248X

Research Portal

Publications

1 of 2

Kehitysvammaisuutta esiintyy enemmän pojilla kuin tytöillä (2024)
- Lääkärilehti
Arvio, Maria; Lähdetie, Jaana
(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
Lähdetie Jaana, Muñoz-Ruiz Miguel, Kokki Hannu
(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
Mittal Balraj, Arvio Maria, Lähdetie Jaana, Koivu Hannu, Sohlberg Antti, Pekkonen Eero
(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
Lähdetie Jaana
(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
Arvio Maria, Lähdetie Jaana
(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
Arvio Maria, Haanpää Maria, Pohjola Pia, Lähdetie Jaana
(A1 Refereed original research article in a scientific journal)
Unenaikainen aivojen sähköinen purkaustoiminta lapsen kognitiivisen suoriutumiskyvyn heikkenemisen ja käytösoireiden syynä (2021)
- Duodecim
Lähdetie Jaana, Forsell Netta, Lähdesmäki Tuire, Karhu Jari O, Munós-Ruiz Miguel
(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
Raili Riikonen, Jaana Lähdetie, Hannu Kokki
(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
Arvio M, Lähdetie J
(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
Miguel Muñoz-Ruiz, Janne Nordberg, Jaana Lähdetie, Satu K. Jääskeläinen
(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
Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina M. England, Kristen M. Laricchia, Thomas Mullen, Elise Valkanas, Liwen Xu, Marta Bertoli, Alison Blain, Ana B. Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur; The MYO-SEQ consortium, Volker Straub
(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
Arvio M, Määttänen L, Haanpää M, Lähdetie J
(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
Janne Lahtiranta, Jaana Lähdetie
(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
Hynynen J., Pokka T., Komulainen-Ebrahim J., Myllynen P., Kärppä M., Pylvänen L., Kälviäinen R., Sokka A., Jyrkilä A., Lähdetie J., Haataja L., Mäkitalo A., Ylikotila P., Eriksson K., Haapala P., Ansakorpi H., Hinttala R., Vieira P., Majamaa K., Rantala H., Uusimaa J.
(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
Koeks Z., Bladen C., Salgado D., Van Zwet E., Pogoryelova O., McMacken G., Monges S., Foncuberta M., Kekou K., Kosma K., Dawkins H., Lamont L., Bellgard M., Roy A., Chamova T., Guergueltcheva V., Chan S., Korngut L., Campbell C., Dai Y., Wang J., Barišić N., Brabec P., Lähdetie J., Walter M., Schreiber-Katz O., Karcagi V., Garami M., Herczegfalvi A., Viswanathan V., Bayat F., Buccella F., Ferlini A., Kimura E., Van Den Bergen J., Rodrigues M., Roxburgh R., Lusakowska A., Kostera-Pruszczyk A., Santos R., Neagu E., Artemieva S., Rasic V., Vojinovic D., Posada M., Bloetzer C., Klein A., Díaz-Manera J., Gallardo E., Karaduman A., Oznur T., Topalolu H., El Sherif R., Stringer A., Shatillo A., Martin A., Peay H., Kirschner J., Flanigan K., Straub V., Bushby K., Béroud C., Verschuuren J., Lochmüller H., Lochmüller H., Béroud C., Verschuuren J., Straub V., Bushby K.
(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
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barisic N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Diaz-Manera J, Gallardo E, Karaduman AA, Topaloglu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Beroud C, Lochmuller H
(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
Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GVG, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmuller H
(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
Bladen CL1, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barišić N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloğlu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Béroud C, Lochmüller H.
(A1 Refereed original research article in a scientific journal)