Human prion diseases with variant prion protein

Novel Proteinaceous Infectious Particles Cause Scrapie

1982 • 4,972 citations

Molecular Biology of Prion Diseases

1991 • 1,978 citations

A protease-resistant protein is a structural component of the Scrapie prion

1983 • 919 citations

Homozygous prion protein genotype predisposes to sporadic Creutzfeldt–Jakob disease

1991 • 871 citations

Linkage of a prion protein missense variant to Gerstmann–Sträussler syndrome

1989 • 834 citations

Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Disease Phenotype Determined by a DNA Polymorphism

1992 • 680 citations

Fatal Familial Insomnia, a Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene

1992 • 588 citations

Distinct prion proteins in short and long scrapie incubation period mice

1987 • 482 citations

Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.

1991 • 328 citations

Abnormal isoform of prion protein accumulates in follicular dendritic cells in mice with Creutzfeldt-Jakob disease

1991 • 290 citations

Abnormal isoform of prion proteins accumulates in the synaptic structures of the central nervous system in patients with Creutzfeldt-Jakob disease.

1992 • 271 citations

Pro→Leu change at position 102 of prinon protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome

1989 • 268 citations

CREUTZFELDT-JAKOB DISEASE

1969 • 264 citations

Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome

1989 • 254 citations

Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles

1992 • 240 citations

Assignment of the human and mouse prion protein genes to homologous chromosomes.

1986 • 233 citations

Transmission of chronic spongiform encephalopathy with kuru plaques from humans to small rodents

1979 • 193 citations

An Amber Mutation of Prion Protein in Gerstmann-Sträussler Syndrome with Mutant PrP Plaques

1993 • 191 citations

Novel Missense Variants of Prion Protein in Creutzfeldt-Jakob Disease or Gerstmann-Sträussler Syndrome

1993 • 170 citations

An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease

1990 • 148 citations

A new inherited prion disease (PrP‐P105L mutation) showing spastic paraparesis

1993 • 105 citations

Immunochemical, molecular genetic, and transmission studies on a case of Gerstmann‐Straussler‐Scheinker syndrome

1990 • 93 citations

The primary structure of the prion protein influences the distribution of abnormal prion protein in the central nervous system.

1992 • 62 citations

Creutzfeldt-Jakob disease with codon 129 polymorphism (Valine): a comparative study of patients with codon 102 point mutation or without mutations

1992 • 58 citations

Gerstmann‐Sträussler‐Scheinker disease: Immunohistological and experimental studies

1988 • 55 citations

Double mutations at codon 180 and codon 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease

1993 • 47 citations

Japanese family with Creutzfeldt‐Jakob disease with codon 200 point mutation of the prion protein gene

1994 • 45 citations

Creutzfeldt‐Jakob disease patients with congophilic kuru plaques have the missense variant prion protein common to Gerstmann‐Sträussler syndrome

1990 • 44 citations

Gerstmann-Str�ussler syndrome ? A variant type: amyloid plaques and Alzheimer's neurofibrillary tangles in cerebral cortex

1992 • 38 citations

Species Barrier Prevents an Abnormal Isoform of Prion Protein from Accumulating in Follicular Dendritic Cells of Mice with Creutzfeldt-Jakob Disease

1993 • 25 citations

[An autopsy case of Gerstmann-Sträusser-Scheinker's disease with spastic paraplegia as its principal feature].

1991 • 13 citations

[Gerstmann-Sträussler-Scheinker disease with heterozygous codon change at prion protein codon 129].

1992 • 8 citations