Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

Neurobiology of Aging

Volumn 35, Issue 10, 2014, Pages 2419.e23-2419.e25

  Le Ber, Isabelle ^a,b,c,d   De Septenville, Anne ^a,b,c   Guerreiro, Rita ^e   Bras, José ^e   Camuzat, Agnès ^a,b,c   Caroppo, Paola ^a,b,c   Lattante, Serena ^a,b,c   Couarch, Philippe ^a,b,c   Kabashi, Edor ^a,b,c   Bouya Ahmed, Kawtar ^a,b,c   Dubois, Bruno ^a,b,c,d   Brice, Alexis ^a,b,c,d  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c CNRS   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Alzheimer's disease; Dementia; FTD; FTLD; Nasu Hakola; PLOSL; TREM2

Indexed keywords

METHIONINE; THREONINE; IMMUNOGLOBULIN RECEPTOR; MEMBRANE PROTEIN; TREM2 PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; CASE REPORT; CONSANGUINITY; CORPUS CALLOSUM; EPILEPSY; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; HETEROZYGOSITY; HIPPOCAMPUS; HOMOZYGOSITY; HUMAN; ITALY; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PARIETAL CORTEX; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; TREM2 GENE; BRAIN; FEMALE; GENETIC ASSOCIATION; GENETICS; HOMOZYGOTE; MIDDLE AGED; MUTATION; PATHOLOGY;

ADULT; BRAIN; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTATION; PHENOTYPE; RECEPTORS, IMMUNOLOGIC;

EID: 84903776641     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2014.04.010     Document Type: Article

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