Octapeptide repeat insertions in the prion protein gene and early onset dementia

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Journal of Neurology Neurosurgery & Psychiatry

• Publication date

  2004-07-16

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jnnp.2003.020198PMID 15258222PMCID PMC1739180
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  1999cited by this paper
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  1999cited by this paper
• "Ivy sign" on fluid-attenuated inversion-recovery images in childhood moyamoya disease.

  1999cited by this paper
• Gerstmann-Sträussler-Scheinker disease- the dilemma of molecular and clinical correlations.

  1999cited by this paper
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  1999cited by this paper
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  1998cited by this paper
• Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.

  1998cited by this paper
• Huntington's disease.

  1997cited by this paper
• Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family

  1997cited by this paper
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  1996cited by this paper
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• Diffuse leptomeningeal enhancement, "ivy sign," in magnetic resonance images of moyamoya disease in childhood: case report.

  1995cited by this paper
• Two novel insertions in the prion protein gene in patients with late-onset dementia.

  1995cited by this paper
• Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene.

  1995cited by this paper
• Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism.

  1994cited by this paper
• Mutations and polymorphisms in the prion protein gene

  1993cited by this paper
• A new (two‐repeat) octapeptide coding insert mutation in Creutzfeldt‐Jakob disease

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• Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies.

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  1992cited by this paper
• A dementing illness associated with a novel insertion in the prion protein gene.

  1992cited by this paper
• Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological features.

  1992cited by this paper
• Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.

  1991cited by this paper
• An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease.

  1990cited by this paper
• Insertion in prion protein gene in familial Creutzfeldt-Jakob disease.

  1989cited by this paper
• INSERTION IN PRION PROTEIN GENE IN FAMILIAL CREUTZFELDT-IAKOB DISEASE

  1989cited by this paper

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  2019cites this paper
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  2018cites this paper
• Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases

  2018cites this paper
• Genetic PrP Prion Diseases.

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  2018cites this paper
• Structural Modeling of Human Prion Protein's Point Mutations.

  2017cites this paper
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