Skip to main content

7 Result(s)

within Matti Haltia Remove this filter

and

  1. Article

    Alzheimer disease PS-1 exon 9 deletion defined

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

    Download PDF (197 KB) View Article

  2. No Access

    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)

  3. No Access

    Article

    Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: an immunological study

    The molecular defects underlying neuronal ceroid-lipofuscinoses (NCL) are still unknown. However, more data exist on the composition of the hydrophobic storage material characteristic of NCL. Accumulation of s...

    Jaana Tyynelä, Marc Baumann, Margarete Henseler, Konrad Sandhoff… in Acta Neuropathologica (1995)

  4. No Access

    Article

    An autosomal locus predisposing to deletions of mitochondrial DNA

    The molecular mechanisms by which the nuclear genome regulates the biosynthesis of mitochondrial DNA (mtDNA) are only beginning to be unravelled. A naturally occurring in vivo model for a defect in this cross–tal...

    Anu Suomalainen, Jyrki Kaukonen, Patrizia Amati, Ritva Timonen… in Nature Genetics (1995)

  5. No Access

    Article

    Pathogenesis of primary central nervous system lymphoma: invasion of malignant lymphoid cells into and within the brain parenchyme

    The pattern of invasion of lymphoid cells to the central nervous system (CNS) was analyzed for malignant lymphocytes in 19 primary CNS lymphomas (PCNSL) and six intracerebral metastatic lymphomas, and for reac...

    Riitta Aho, Tauno Ekfors, Matti Haltia, Hannu Kalimo in Acta Neuropathologica (1993)

  6. No Access

    Article

    Low and moderate concentrations of lysobisphosphatidic acid in brain and liver of patients affected by some storage diseases

    The relative amount of lysobisphosphatidic acid (LBPA), known also as bis(monoacylglyceryl)phosphate, among the total phospholipids was analyzed in post mortem samples of brain and liver of patients affected b...

    Kauko Kahma, Jaakko Brotherus, Matti Haltia, Ossi Renkonen in Lipids (1976)

  7. No Access

    Article

    Infantile type of so-called neuronal ceroid-lipofuscinosis

    Autopsy reports are presented of three cases of a rapidly progressive encephalopathy with clinical onset around one year of age, early amaurosis, and microcephaly. Convulsions were few or absent. The disorder ...

    Matti Haltia, Juhani Rapola, Pirkko Santavuori in Acta Neuropathologica (1973)