A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature

Neurobiology of Aging

Volumn 53, Issue , 2017, Pages 194.e13-194.e22

  Dardiotis, Efthimios ^a   Siokas, Vasileios ^a   Pantazi, Eva ^a   Dardioti, Maria ^a   Rikos, Dimitrios ^a   Xiromerisiou, Georgia ^a   Markou, Aikaterini ^a   Papadimitriou, Dimitra ^a   Speletas, Matthaios ^b   Hadjigeorgiou, Georgios M ^a  

^a UNIVERSITY OF THESSALY   (Greece)

^b UNIVERSITY OF THESSALY   (Greece)

Author keywords

Microgliopathies; Nasu hakola disease; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; TREM2 gene mutations

Indexed keywords

TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; IMMUNOGLOBULIN RECEPTOR; MEMBRANE PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TREM2 PROTEIN, HUMAN; TYROBP PROTEIN, HUMAN;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANKLE FRACTURE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE CYST; BRADYCARDIA; BRAIN CALCIFICATION; CASE REPORT; CEREBELLUM ATROPHY; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; ELECTROENCEPHALOGRAM; FACIAL NERVE PARALYSIS; FEMALE; FLOW CYTOMETRY; FRONTAL LOBE; GENE; GENE MUTATION; HUMAN; MISSENSE MUTATION; NASU HAKOLA DISEASE; NEURALGIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PHAGOCYTOSIS; POLYMERASE CHAIN REACTION; RESPIRATORY BURST; TREM2 GENE; TYROBP GENE; WRIST FRACTURE; CHONDRODYSPLASIA; EXON; GENETIC ASSOCIATION STUDY; GENETICS; HETEROZYGOTE; LIPODYSTROPHY; MUTATION; PHENOTYPE; SUBACUTE SCLEROSING PANENCEPHALITIS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; LIPODYSTROPHY; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; RECEPTORS, IMMUNOLOGIC; SUBACUTE SCLEROSING PANENCEPHALITIS;

EID: 85012865847     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2017.01.015     Document Type: Article

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