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Volumn 1039, Issue , 2005, Pages 436-445

Niemann-Pick type C disease in two affected sisters: Ocular motor recordings and brain-stem neuropathology

Author keywords

Niemann Pick; Supranuclear gaze palsy

Indexed keywords

ADULT; ALZHEIMER DISEASE; BRAIN ATROPHY; CASE REPORT; CONFERENCE PAPER; ELECTRON MICROSCOPY; FEMALE; GAZE PARALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INBORN ERROR OF METABOLISM; MEDIAL LONGITUDINAL BUNDLE; MOTONEURON; NEUROIMAGING; NEUROPATHOLOGY; NIEMANN PICK DISEASE; SACCADIC EYE MOVEMENT; VESTIBULOOCULAR REFLEX;

EID: 22144436233     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1196/annals.1325.041     Document Type: Conference Paper
Times cited : (49)

References (7)
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  • 3
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    • PARK, W.D., J.F. O'BRIEN, P.A. LUNDQUIST, et al. 2003. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum. Mutat. 22: 313-325.
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    • JIN, L.W., F.S. SHIE, I. MAEZAWA, et al. 2004. Intracellular accumulation of amyloidogenic fragments of amyloid-beta precursor protein in neurons with Niemann-Pick type C defects is associated with endosomal abnormalities. Am. J. Pathol. 164: 975-985.
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  • 5
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.