Novel features in a patient homozygous for the L347P mutation in the PINK1 gene

Parkinsonism and Related Disorders

Volumn 13, Issue 6, 2007, Pages 359-361

  Doostzadeh, J ^a   Tetrud, J W ^a   Allen Auerbach, M ^b   Langston, J W ^a   Schule B ^a  

^a PARKINSON S INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

F DOPA PET; PARK6; Parkinson's disease; Phenotype; PINK1

Indexed keywords

6 FLUORODOPA; CARBIDOPA PLUS LEVODOPA; ROPINIROLE;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DOPA RESPONSIVE DYSTONIA; DYSTONIA; FEMALE; FILIPINO; FOUNDER EFFECT; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LOW DRUG DOSE; NUCLEOTIDE SEQUENCE; PARKINSON DISEASE; PARKINSONISM; PINK1 GENE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; SYMPTOMATOLOGY;

ADULT; AGED; AGED, 80 AND OVER; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; LYSINE; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PROLINE; PROTEIN KINASES;

EID: 34547672845     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2006.08.009     Document Type: Article

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