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Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes
- Source :
- Neurology, 65, 87-95, Neurology, 65, 1, pp. 87-95, Neurology, 65(1), 87-95. Lippincott Williams & Wilkins
- Publication Year :
- 2005
-
Abstract
- Item does not contain fulltext OBJECTIVE: To assess the prevalence, nature, and associated phenotypes of PINK1 gene mutations in a large series of patients with early-onset (
- Subjects :
- Adult
Male
DNA, Complementary
Adolescent
Genotype
Parkinson's disease
assessment
DNA Mutational Analysis
Mutation, Missense
Biology
Early-onset parkinsonism
medicine.disease_cause
Genotype-phenotype distinction
Cognitive neurosciences [UMCN 3.2]
Gene Frequency
PINK1 gene mutations
medicine
Missense mutation
Humans
Genetic Predisposition to Disease
Genetic Testing
Allele
Age of Onset
Child
Allele frequency
Genetics
Mutation
Parkinson'disease
Genome
Polymorphism, Genetic
Sequence Homology, Amino Acid
Parkinsonism
Parkinson Disease
Middle Aged
medicine.disease
Phenotype
Italy
Female
Neurology (clinical)
Age of onset
Protein Kinases
Subjects
Details
- ISSN :
- 00283878
- Volume :
- 65
- Database :
- OpenAIRE
- Journal :
- Neurology
- Accession number :
- edsair.doi.dedup.....eb8a2828c43dbbcbdf7062ec15cf7e25