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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
We have previously reported a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a mutation in CHMP2B, encoding a component ofExpand
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Prion protein (PrP) with amino‐proximal deletions restoring susceptibility of PrP knockout mice to scrapie.
The ‘protein only’ hypothesis postulates that the prion, the agent causing transmissible spongiform encephalopathies, is PrP(Sc), an isoform of the host protein PrP(C). Protease treatment of prionExpand
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An Aneuploid Mouse Strain Carrying Human Chromosome 21 with Down Syndrome Phenotypes
Aneuploidies are common chromosomal defects that result in growth and developmental deficits and high levels of lethality in humans. To gain insight into the biology of aneuploidies, we manipulatedExpand
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Normal host prion protein necessary for scrapie-induced neurotoxicity
ACCUMULATION of the prion protein PrPSc, a pathological and protease-resistant isoform of the normal host protein PrPc, is a feature of prion disease such as scrapie1,2. It is still unknown whetherExpand
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Monoclonal antibodies inhibit prion replication and delay the development of prion disease
Prion diseases such as Creutzfeldt–Jakob disease (CJD) are fatal, neuro-degenerative disorders with no known therapy. A proportion of the UK population has been exposed to a bovine spongiformExpand
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Depleting Neuronal PrP in Prion Infection Prevents Disease and Reverses Spongiosis
The mechanisms involved in prion neurotoxicity are unclear, and therapies preventing accumulation of PrPSc, the disease-associated form of prion protein (PrP), do not significantly prolong survivalExpand
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DNA methylation-based classification of central nervous system tumours
TLDR
We present a comprehensive approach for the DNA methylation-based classification of central nervous system tumours across all entities and age groups, and demonstrate its application in a routine diagnostic setting. Expand
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Neuroprotective Role of the Reaper-Related Serine Protease HtrA2/Omi Revealed by Targeted Deletion in Mice
ABSTRACT The serine protease HtrA2/Omi is released from the mitochondrial intermembrane space following apoptotic stimuli. Once in the cytosol, HtrA2/Omi has been implicated in promoting cell deathExpand
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Early‐onset L‐dopa‐responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations
Seven autosomal recessive genes associated with juvenile and young‐onset Levodopa‐responsive parkinsonism have been identified. Mutations in PRKN, DJ‐1, and PINK1 are associated with a rather pureExpand
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One Hundred and One Dysembryoplastic Neuroepithelial Tumors: An Adult Epilepsy Series With Immunohistochemical, Molecular Genetic, and Clinical Correlations and a Review of the Literature
Simple and complex forms of dysembryoplastic neuroepithelial tumors (DNTs) are readily recognizable but forms with diffuse growth pattern, and hybrid tumors, that is, mixed DNT and gangliogliomaExpand
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