Skip to main content

and
  1. Article

    Open Access

    Blood brain barrier leakage is not a consistent feature of white matter lesions in CADASIL

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic paradigm of small vessel disease (SVD) caused by NOTCH3 mutations that stereotypically lead to the...

    Rikesh M. Rajani, Julien Ratelade in Acta Neuropathologica Communications (2019)

  2. Article

    Open Access

    The Arctic AβPP mutation leads to Alzheimer’s disease pathology with highly variable topographic deposition of differentially truncated Aβ

    The Arctic mutation (p.E693G/p.E22G)fs within the β-amyloid (Aβ) region of the β-amyloid precursor protein gene causes an autosomal dominant disease with clinical picture of typical Alzheimer’s disease. Here w...

    Hannu Kalimo, Maciej Lalowski, Nenad Bogdanovic in Acta Neuropathologica Communications (2013)

  3. Article

    Open Access

    Pyroglutamate Abeta pathology in APP/PS1KI mice, sporadic and familial Alzheimer’s disease cases

    The presence of AβpE3 (N-terminal truncated Aβ starting with pyroglutamate) in Alzheimer’s disease (AD) has received considerable attention since the discovery that this peptide represents a dominant fraction of ...

    Oliver Wirths, Tobias Bethge, Andrea Marcello in Journal of Neural Transmission (2010)

  4. 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)

  5. 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)

  6. No Access

    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)

  7. No Access

    Article

    Ultrastructural changes in the hippocampal CA1 region following transient cerebral ischemia: evidence against programmed cell death

    The ultrastructural changes in the pyramidal neurons of the CA1 region of the hippocampus were studied 6 h, 24 h, 48 h, and 72 h following a transient 10 min period of cerebral ischemia induced by common carot...

    Jayant Deshpande, Kerstin Bergstedt, Thomas Lindén in Experimental Brain Research (1992)