All Stories

  1. Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

    Article • Annals of Neurology, November 2020, Wiley

    Dr. Tarja Hannele Joensuu

  2. Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases

    Article • Neuropediatrics, May 2018, Thieme Publishing Group

    Dr. Tarja Hannele Joensuu

  3. Mouse Model of Unverricht-Lundborg Disease

    Article • January 2015, Elsevier

    Dr. Tarja Hannele Joensuu

  4. Abnormal microglial activation in theCstb−/−mouse, a model for progressive myoclonus epilepsy, EPM1

    Article • Glia, October 2014, Wiley

    Dr. Tarja Hannele Joensuu

  5. Gene Expression Alterations in the Cerebellum and Granule Neurons of Cstb−/− Mouse Are Associated with Early Synaptic Changes and Inflammation

    Article • PLoS ONE, February 2014, PLOS

    Dr. Tarja Hannele Joensuu

  6. Early Microglial Activation Precedes Neuronal Loss in the Brain of theCstb−/−Mouse Model of Progressive Myoclonus Epilepsy, EPM1

    Article • Journal of Neuropathology & Experimental Neurology, January 2012, Oxford University Press (OUP)

    Dr. Tarja Hannele Joensuu

  7. Molecular background of EPM1—Unverricht–Lundborg disease

    Article • Epilepsia, April 2008, Wiley

    Dr. Tarja Hannele Joensuu

  8. Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients

    Article • European Journal of Human Genetics, September 2006, Springer Science + Business Media

    Dr. Tarja Hannele Joensuu

  9. Characterisation of the mulibrey nanism-associated TRIM37 gene: Transcription initiation, promoter region and alternative splicing

    Article • Gene, January 2006, Elsevier

    Dr Jukka Kallijärvi, Dr. Tarja Hannele Joensuu

  10. Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

    Article • The American Journal of Human Genetics, October 2001, Elsevier

    Dr. Tarja Hannele Joensuu

  11. Mutations in KERA, encoding keratocan, cause cornea plana

    Article • Nature Genetics, May 2000, Springer Science + Business Media

    Dr. Tarja Hannele Joensuu

  12. A Sequence-Ready Map of the Usher Syndrome Type III Critical Region on Chromosome 3q

    Article • Genomics, February 2000, Elsevier

    Dr. Tarja Hannele Joensuu

  13. Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1

    Article • Gene, January 2000, Elsevier

    Dr. Tarja Hannele Joensuu

  14. A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy

    Article • Human Mutation, January 2000, Wiley

    Dr. Tarja Hannele Joensuu

  15. Refined Mapping of the Usher Syndrome Type III Locus on Chromosome 3, Exclusion of Candidate Genes, and Identification of the Putative Mouse Homologous Region

    Article • Genomics, December 1996, Elsevier

    Dr. Tarja Hannele Joensuu