Jaana Lähdetie
 

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
  
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  • Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219ArginSLC13A5: A case report  (2020)  
    • American Journal of Medical Genetics Part AGenetics in Medicine
     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 teenagerTwo middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB)  (2020)  
    • Clinical neurophysiology practiceAmerican Journal of Medical Genetics Part A
     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 weaknessVariants 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  (2020)  
       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)


    •   (2019)  
         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)


      •   (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 MutationsMapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe  (2015)  
        • Human MutationJournal of Neurology
         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)


      •   (2014)  
           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)



        Last updated on 28/12/2023 09:33:56 AM