Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain

Neurobiology of Aging

Volumn 38, Issue , 2016, Pages 216.e11-216.e18

  Jaberi, Elham ^a   Rohani, Mohammad ^b   Shahidi, Gholam Ali ^b   Nafissi, Shahriar ^c   Arefian, Ehsan ^a   Soleimani, Masoud ^d   Rasooli, Paniz ^a   Ahmadieh, Hamid ^e   Daftarian, Narsis ^e   Carrami, Eli M ^a   Klotzle, Brandy ^f   Fan, Jian Bing ^f   Turk, Casey ^f   Steemers, Frank ^f   Elahi, Elahe ^a  

^a UNIVERSITY OF TEHRAN   (Iran)

^b IRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d TARBIAT MODARES UNIVERSITY   (Iran)

^e SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^f ILLUMINA INC   (United States)

Author keywords

Ataxia; Cognitive dysfunction; Exome sequencing; GTPBP2; NBIA; Neurodegenerative disease

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN 2; MESSENGER RNA; UNCLASSIFIED DRUG; GTPBP2 PROTEIN, HUMAN; IRON; MONOMERIC GUANINE NUCLEOTIDE BINDING PROTEIN;

ADULT; ARTICLE; ATAXIA; CASE REPORT; CONSANGUINITY; CONTROLLED STUDY; DYSTONIA; ELECTRORETINOGRAPHY; EXOME; EXON SKIPPING; FEMALE; GENE; GENE SEQUENCE; GTPBP2 GENE; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; MALE; MENTAL DEFICIENCY; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; PEDIGREE ANALYSIS; PHOTORECEPTOR CELL; PRIORITY JOURNAL; RETINA AMACRINE CELL; RETINA BIPOLAR GANGLION CELL; SIBLING; SPLICING DEFECT; ANIMAL; BRAIN; DEGENERATIVE DISEASE; DNA SEQUENCE; EXON; GENETIC ASSOCIATION STUDY; GENETIC LINKAGE; GENETICS; METABOLISM; MOUSE; MUTATION;

ADULT; ANIMALS; BRAIN; EXOME; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; HUMANS; IRON; MALE; MICE; MONOMERIC GTP-BINDING PROTEINS; MUTATION; NEURODEGENERATIVE DISEASES; SEQUENCE ANALYSIS, DNA;

EID: 84949641102     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2015.10.034     Document Type: Article

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