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  1. No Access

    Article

    Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation

    Mutations in the progranulin (PGRN) gene have recently been identified in families with frontotemporal lobar degeneration and ubiquitin-positive brain inclusions linked to chromosome 17q21. We have previously des...

    Lena Skoglund, RoseMarie Brundin, Tommie Olofsson, Hannu Kalimo… in neurogenetics (2009)

  2. Article

    Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

    Johanna Annunen-Rasila, Saara Finnilä, Kati Mykkänen, Jukka S. Moilanen… in Neurogenetics (2006)

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    Article

    Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

    Mutations in the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is clinically characterised by recurrent ischemic strokes, migraine w...

    Johanna Annunen-Rasila, Saara Finnilä, Kati Mykkänen, Jukka S. Moilanen… in Neurogenetics (2006)

  4. Article

    Alzheimer disease PS-1 exon 9 deletion defined

    Guy Prihar, Auli Verkkoniem, Jordi Perez-Tur, Richard Crook… in Nature Medicine (1999)

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    Article

    A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

    We describe a novel variant of Alzheimer's disease (AD) in a Finnish pedigree with 17 affected individuals of both sexes in three generations. The disease is characterized by progressive dementia which is, in ...

    Richard Crook, Auli Verkkoniemi, Jordi Perez-Tur, Nitin Mehta… in Nature Medicine (1998)