Identification of p.Gln858* in ATP13A2 in two EOPD patients and presentation of their clinical features

Neuroscience Letters

Volumn 577, Issue , 2014, Pages 106-111

  Malakouti Nejad, Maryam ^a,b   Shahidi, Gholam Ali ^c   Rohani, Mohammad ^c   Shojaee, Seyed Mehdi ^a,f   Hashemi, Mehrdad ^d   Klotzle, Brandy ^e   Fan, Jian Bing ^e   Elahi, Elahe ^a  

^a UNIVERSITY OF TEHRAN   (Iran)

^b ISLAMIC AZAD UNIVERSITY   (Iran)

^c IRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d ISLAMIC AZAD UNIVERSITY   (Iran)

^e ILLUMINA INC   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

ATP13A2; Early onset Parkinson's disease; EOPD; Homozygosity mapping; P.Gln858

Indexed keywords

ALPHA SYNUCLEIN; ATP13A2 PROTEIN; DJ 1 PROTEIN; LEUCINE RICH REPEAT KINASE 2; LEVODOPA; PARKIN; PHOSPHOTRANSFERASE; PROTEIN; PTEN INDUCED PUTATIVE KINASE 1; UNCLASSIFIED DRUG; ATP13A2 PROTEIN, HUMAN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE;

ADULT; ALLELE; ARTICLE; BRADYKINESIA; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; DRUG WITHDRAWAL; DYSKINESIA; DYSTONIA; EARLY ONSET PARKINSON DISEASE; EYE MOVEMENT DISORDER; FEMALE; GAZE PARALYSIS; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENOME; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MALE; MIDDLE AGED; ONSET AGE; PARKINSON DISEASE; PRIORITY JOURNAL; RIGIDITY; SACCADIC EYE MOVEMENT; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; TREMOR; YOUNG ADULT; CASE REPORT; CHROMOSOME MAP; GENETIC SCREENING; GENETICS; HOMOZYGOTE; IRAN; MUTATION;

ADULT; CHROMOSOME MAPPING; FEMALE; GENETIC TESTING; HOMOZYGOTE; HUMANS; IRAN; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PROTON-TRANSLOCATING ATPASES; YOUNG ADULT;

EID: 84903437241     PISSN: 03043940     EISSN: 18727972     Source Type: Journal    
DOI: 10.1016/j.neulet.2014.06.023     Document Type: Article

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