Thalamo-striatal diffusion reductions precede disease onset in prion mutation carriers

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Thalamo-striatal diffusion reductions precede disease onset in prion mutation carriers.

Human prion diseases present substantial scientific and public health challenges. They are unique in being sporadic, infectious and inherited, and their pathogen is distinct from all other pathogens in lacking nucleic acids. Despite progress in understanding the molecular structure of prions, their initial cerebral pathophysiology and the loci of cerebral injury are poorly understood. As part o...

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Familial Prion Disease Cases Without Mutation in PRNPGene

Phosphorus (P), in the form of phosphate ion (Pi), is a vital element contributing in biomolecule structures, metabolic reactions, signaling pathways and energy transfer within the living cells. The objective of the present study was to assess the influence of fungal infection on Pi metabolism in compare to the effects of phosphate stress in Arabidopsis. Quantification of total P contents showe...

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familial prion disease cases without mutation in prnpgene

phosphorus (p), in the form of phosphate ion (pi), is a vital element contributing in biomolecule structures, metabolic reactions, signaling pathways and energy transfer within the living cells. the objective of the present study was to assess the influence of fungal infection on pi metabolism in compare to the effects of phosphate stress in arabidopsis. quantification of total p contents showe...

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Childhood onset in familial prion disease with a novel mutation in the PRNP gene.

BACKGROUND Up to 15% of cases of prion diseases are due to the autosomal dominant inheritance of coding PRNP mutations. OBJECTIVE To describe the unique clinical and genetic findings in a family of East Indian origin with autosomal dominant inheritance of a novel PRNP mutation. DESIGN Detailed neurological examination and sequencing analysis of the MAPT and PRNP genes. SETTING Toronto Wes...

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Estimating disease onset distribution functions in mutation carriers with censored mixture data

We consider non-parametric estimation of disease onset distribution functions in multiple populations by using censored data with unknown population identifiers. The problem is motivated from studies aiming at estimating the age-specific disease risk distribution in deleterious mutation carriers for genetic counselling and design of therapeutic intervention trials to modify disease progression ...

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ژورنال

عنوان ژورنال: Brain

سال: 2009

ISSN: 1460-2156,0006-8950

DOI: 10.1093/brain/awp064