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Open AccessBlood 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...
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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...
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Autophagy in neuropathology
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Open AccessThe 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...
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Article
Polymorphonuclear neutrophil infiltration into ischemic infarctions: myth or truth?
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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...
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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...
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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...
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Article
Open AccessPyroglutamate 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 ...
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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...
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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...
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Article
Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL
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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...
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Article
Alzheimer disease PS-1 exon 9 deletion defined
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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 ...
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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...
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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...