Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease

Parkinsonism and Related Disorders

Volumn 14, Issue 6, 2008, Pages 509-512

  Savettieri, Giovanni ^a   Annesi, Grazia ^b   Civitelli, Donatella ^b   Cirò Candiano, Innocenza Claudia ^b   Salemi, Giuseppe ^a   Ragonese, Paolo ^a   Annesi, Ferdinanda ^b   Tarantino, Patrizia ^b   Terruso, Valeria ^a   D'Amelio, Marco ^a   Quattrone, Aldo ^b  

^a UNIVERSITY OF PALERMO   (Italy)

^b INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

Author keywords

Familial forms; Genotype phenotype correlation; Parkinson's disease; PINK1

Indexed keywords

BIPERIDEN; LEVODOPA; OLANZAPINE; PRAMIPEXOLE; PROTEIN KINASE; PROTEIN PINK1; UNCLASSIFIED DRUG;

AGED; ARTICLE; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; EXON; FAMILY STUDY; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; ITALY; MALE; MENTAL DETERIORATION; MENTAL DISEASE; NEUROPSYCHOLOGICAL TEST; ONSET AGE; PARKINSON DISEASE; PATHOGENESIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN DOMAIN;

AGE OF ONSET; AGED; AMINO ACID SEQUENCE; ANTIPARKINSON AGENTS; COGNITION DISORDERS; EXONS; GENE DELETION; GENOTYPE; HUMANS; LEVODOPA; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PARKINSON DISEASE; PEDIGREE; PHENOTYPE; PROTEIN KINASES;

EID: 49649119747     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2007.10.014     Document Type: Article

References (12)

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