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Novel Familial Early-onset Alzheimer's Disease Mutation (Leu723Pro) in Amyloid Percursor Protein (APP) Gene Increases Production of 42(43) Amino Acid Isoform of Amyloid- Peptide
British Library Conference Proceedings | 1999| -
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
British Library Online Contents | 1993| -
Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)
British Library Online Contents | 2002| -
Localization of Frontotemporal Dementia with Parkinsonism in an Australian Kindred to Chromosome 17q21-22
British Library Online Contents | 1997| -
Presenilin-1 Mutation L271V Results in Altered Exon 8 Splicing and Alzheimer's Disease with Non-cored Plaques and No Neuritic Dystrophy
British Library Online Contents | 2003| -
Tau Haplotypes Regulate Transcription and Are Associated with Parkinson's Disease
British Library Online Contents | 2003| -
Alzheimer's disease with spastic paraparesis and `cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions
British Library Online Contents | 2003| -
A Missense Mutation in Kynurenine Aminotransferase-1 in Spontaneously Hypertensive Rats
British Library Online Contents | 2002| -
Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia
British Library Online Contents | 2003| -
GSK3B Polymorphisms Alter Transcription and Splicing in Parkinson's Disease
British Library Online Contents | 2005| -
Genetic Refinement and Physical Mapping of a 2.3 Mb Probable Disease Region Associated With a Bipolar Affective Disorder Susceptibility Locus on Chromosome 4q35
British Library Online Contents | 2002| -
Variable Phenotype of Alzheimer's Disease with Spastic Paraparesis
British Library Online Contents | 2001|
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