A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy

Acta Neuropathologica

Volumn 98, Issue 1, 1999, Pages 62-77

  Delisle, Marie Bernadette ^a   Murrell, Jill R ^b   Richardson, Rosemarie ^b   Trofatter, James A ^b   Rascol, Olivier ^c   Soulages, Xavier ^d   Mohr, Michel ^e   Calvas, Patrick ^c   Ghetti, Bernardino ^b  

^a UNIVERSITÉ PAUL SABATIER   (France)

^b INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c TOULOUSE UNIVERSITY HOSPITAL   (France)

^d GENERAL HOSPITAL   (France)

^e UNIVERSITÉ DE STRASBOURG   (France)

Author keywords

Exon amplification; Frontotemporal dementia; Genetics; Progressive supranuclear palsy; Tauopathy

Indexed keywords

ANTIBODY; TAU PROTEIN;

ADULT; AKINESIA; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; BASAL GANGLION; BRAIN CORTEX; BRAIN STEM; CASE REPORT; COGNITIVE DEFECT; EXON; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GLIA CELL; HUMAN; HUMAN TISSUE; IMMUNOELECTRON MICROSCOPY; IMMUNOHISTOCHEMISTRY; NEOCORTEX; NERVE CELL; NEUROPATHOLOGY; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; WHITE MATTER;

ADULT; ALTERNATIVE SPLICING; AMINO ACID SUBSTITUTION; BRAIN; DEMENTIA; EXONS; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSCOPY, IMMUNOELECTRON; MUTATION; NEUROFIBRILLARY TANGLES; NEUROFIBRILS; NEUROGLIA; NEURONS; PARKINSON DISEASE; PEDIGREE; SUPRANUCLEAR PALSY, PROGRESSIVE; TAU PROTEINS;

EID: 0033002879     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010051052     Document Type: Article

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