A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease

Acta Neuropathologica

Volumn 130, Issue 4, 2015, Pages 599-601

  Gami, Priya ^a   Murray, Christina ^a   Schottlaender, Lucia ^a   Bettencourt, Conceição ^a   De Pablo Fernandez, Eduardo ^b   Mudanohwo, Ese ^c   Mizielinska, Sarah ^a   Polke, James M ^c   Holton, Janice L ^a   Isaacs, Adrian M ^a   Houlden, Henry ^a   Revesz, Tamas ^a   Lashley, Tammaryn ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DIPEPTIDE; TAR DNA BINDING PROTEIN; C9ORF72 PROTEIN, HUMAN; DNA BINDING PROTEIN; PROTEIN; REPETITIVE DNA;

AGED; BRAIN REGION; CASE REPORT; CHROMOSOME 9; CHROMOSOME 9 OPEN READING FRAME 72; DEGENERATIVE DISEASE; DNA STRUCTURE; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETIC SCREENING; HEXANUCLEOTIDE REPEAT EXPANSION; HUMAN; LETTER; LIMB WEAKNESS; MOTOR DYSFUNCTION; NEUROFIBRILLARY TANGLE; NEUROPATHY; OPEN READING FRAME; PHYSICAL MOBILITY; POLIOMYELITIS; PRIORITY JOURNAL; SOUTHERN BLOTTING; VERY ELDERLY; BRAIN; GENETICS; METABOLISM; PATHOLOGY;

AGED; AGED, 80 AND OVER; BRAIN; DIPEPTIDES; DNA REPEAT EXPANSION; DNA-BINDING PROTEINS; HUMANS; PROTEINS;

EID: 84942374555     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-015-1473-5     Document Type: Letter

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