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  1. Article

    Open Access

    Absence of polysialylated NCAM is an unfavorable prognostic phenotype for advanced stage neuroblastoma

    The expression of a neural crest stem cell marker, polysialic acid (polySia), and its main carrier, neural cell adhesion molecule (NCAM), have been detected in some malignant tumors with high metastatic activi...

    Miikka Korja, Anne Jokilammi, Toivo T Salmi, Hannu Kalimo… in BMC Cancer (2009)

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  2. No Access

    Article

    The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

    We identified the gene underlying Marinesco-Sjögren syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified four disease-associated, predicted loss-of-function ...

    Anna-Kaisa Anttonen, Ibrahim Mahjneh, Riikka H Hämäläinen… in Nature Genetics (2005)

  3. 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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  4. 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)