Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene. Expansion of the disease phenotype caused by tau gene mutations

Brain

Volumn 123, Issue 5, 2000, Pages 880-893

  Stanford, Prudence M ^a   Halliday, Glenda M ^b   Brooks, William S ^c   Kwok, John B J ^a   Storey, Catherine E ^d   Creasey, Helen ^c   Morris, John G L ^e   Fulham, Michael J ^f   Schofield, Peter R ^a  

^a GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

^b NEUROSCIENCE RESEARCH AUSTRALIA   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d ROYAL NORTH SHORE HOSPITAL   (Australia)

^e WESTMEAD HOSPITAL   (Australia)

^f ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

Corticobasal degeneration; Frontotemporal dementia with Parkinsonism; Mutations; Progressive supranuclear palsy; Tau

Indexed keywords

TAU PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BASAL GANGLION; BRAIN ATROPHY; BRAIN DEGENERATION; CASE REPORT; CHROMOSOME 17; CONTROLLED STUDY; DYSARTHRIA; DYSTONIA; EXON; EXTRAPYRAMIDAL SYNDROME; FEMALE; FRONTAL CORTEX; FRONTOTEMPORAL DEMENTIA; GAZE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; NEUROFIBRILLARY TANGLE; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; SILENT GENE; TEMPORAL CORTEX;

EID: 0034093228     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/123.5.880     Document Type: Article

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