Novel twelve-generation kindred of fatal familial insomnia from Germany representing the entire spectrum of disease expression
- 3 December 1999
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 87 (4), 311-316
- https://doi.org/10.1002/(sici)1096-8628(19991203)87:4<311::aid-ajmg6>3.0.co;2-5
Abstract
No abstract availableKeywords
This publication has 23 references indexed in Scilit:
- SeqHelp: A Program to Analyze Molecular Sequences Utilizing Common Computational ResourcesGenome Research, 1998
- Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200 Lys mutationNeurology, 1996
- Fatal Familial Insomnia and Familial Creutzfeldt‐Jakob Disease: Clinical, Pathological and Molecular FeaturesBrain Pathology, 1995
- Codon 178 mutation of the human prion protein gene in a German family (Backer family): sequencing data from 72-year-old celloidin-embedded brain tissueActa Neuropathologica, 1995
- Novel Missense Variants of Prion Protein in Creutzfeldt-Jakob Disease or Gerstmann-Sträussler SyndromeBiochemical and Biophysical Research Communications, 1993
- Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Disease Phenotype Determined by a DNA PolymorphismScience, 1992
- A PrP gene codon 178 base substitution and a 24‐bp interstitial deletion in familial Creutzfeldt‐Jakob diseaseNeurology, 1992
- Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tanglesNature Genetics, 1992
- Creutzfeldt‐Jakob disease cosegregates with the codon 178AsnPRNP mutation in families of European originAnnals of Neurology, 1992
- Molecular Cloning of a Human Prion Protein cDNADNA, 1986