Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration

Neuropathology and Applied Neurobiology

Volumn 40, Issue 6, 2014, Pages 778-782

  Bit Ivan, Esther N ^a   Lee, Kyung Hwa ^a   Gitelman, Darren ^a   Weintraub, Sandra ^a   Mesulam, Marsel ^a   Rademakers, Rosa ^b   Isaacs, Adrian M ^e   Hatanpaa, Kimmo J ^c   White, Charles L ^c   Mao, Qinwen ^a   Akman, Orhan ^d   Dimauro, Salvatore ^d   Bigio, Eileen H ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^d NEUROLOGICAL INSTITUTE   (United States)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GBE1 PROTEIN, HUMAN; GLYCOGEN DEBRANCHING ENZYME;

ADULT; AGED; BRAIN; CASE REPORT; COMPLICATION; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETICS; GLYCOGEN STORAGE DISEASE; HAPLOINSUFFICIENCY; HUMAN; MALE; METABOLISM; NEUROLOGIC DISEASE; PATHOLOGY;

ADULT; AGED; BRAIN; FEMALE; FRONTOTEMPORAL LOBAR DEGENERATION; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE; HAPLOINSUFFICIENCY; HUMANS; MALE; NERVOUS SYSTEM DISEASES;

EID: 84913594838     PISSN: 03051846     EISSN: 13652990     Source Type: Journal    
DOI: 10.1111/nan.12144     Document Type: Article

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