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  1. No Access

    Article

    X-linked myopathy with excessive autophagy: a failure of self-eating

    Autophagic vacuolar myopathies (AVMs) are a group of disorders united by shared histopathological features on muscle biopsy that include the aberrant accumulation of autophagic vacuoles. The classic conditions...

    James J. Dowling, Steven A. Moore, Hannu Kalimo in Acta Neuropathologica (2015)

  2. Article

    Autophagy in neuropathology

    Berge A. Minassian, Hannu Kalimo in Acta Neuropathologica (2015)

  3. Article

    Polymorphonuclear neutrophil infiltration into ischemic infarctions: myth or truth?

    Hannu Kalimo, Gregory J. del Zoppo, Anders Paetau in Acta Neuropathologica (2013)

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    Article

    VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

    X-linked Myopathy with Excessive Autophagy (XMEA) is a childhood onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. We show that XMEA is caused by hypomorphic alleles of the VM...

    Nivetha Ramachandran, Iulia Munteanu, Peixiang Wang in Acta Neuropathologica (2013)

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    Article

    α-Synuclein pathology in the spinal cord autonomic nuclei associates with α-synuclein pathology in the brain: a population-based Vantaa 85+ study

    In most subjects with Parkinson’s disease and dementia with Lewy bodies, α-synuclein (αS) immunoreactive pathology is found not only in the brain but also in the autonomic nuclei of the spinal cord. However, n...

    Minna Oinas, Anders Paetau, Liisa Myllykangas, Irma-Leena Notkola in Acta Neuropathologica (2010)

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    Article

    Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

    Aberrant transcription and mRNA processing of multiple genes due to RNA-mediated toxic gain-of-function has been suggested to cause the complex phenotype in myotonic dystrophies type 1 and 2 (DM1 and DM2). How...

    Anna Vihola, Linda L. Bachinski, Mario Sirito in Acta Neuropathologica (2010)

  7. 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)

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    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)

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    Article

    Genetically distinct astrocytic and oligodendroglial components in oligoastrocytomas

    Oligoastrocytomas are glial tumours consisting of a mixture of neoplastic astrocytic and oligodendroglial cells. Genetic alterations of oligoastrocytomas include loss of heterozygosity of chromosomes 1p and/or...

    Mingqi Qu, Tommie Olofsson, Sunna Sigurdardottir, Chao You in Acta Neuropathologica (2007)

  10. 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)

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    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)