Glucocerebrosidase mutations in primary parkinsonism

Parkinsonism and Related Disorders

Volumn 20, Issue 11, 2014, Pages 1215-1220

  Asselta, Rosanna ^a   Rimoldi, Valeria ^a   Siri, Chiara ^b   Cilia, Roberto ^b   Guella, Ilaria ^a   Tesei, Silvana ^b   Soldà, Giulia ^a   Pezzoli, Gianni ^b   Duga, Stefano ^a   Goldwurm, Stefano ^b  

^a UNIVERSITY OF MILAN   (Italy)

^b PARKINSON INSTITUTE   (Italy)

Author keywords

Association analysis; Functional characterization; GBA; Parkinson's disease; Parkinsonism; Splicing mutation

Indexed keywords

COMPLEMENTARY DNA; GLUCOSYLCERAMIDASE; MESSENGER RNA;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; COHORT ANALYSIS; COMPARATIVE STUDY; COMPUTER MODEL; CONTROLLED STUDY; CORTICOBASAL DEGENERATION; DIFFUSE LEWY BODY DISEASE; EXON; EXON SKIPPING; FAMILY HISTORY; FEMALE; GBA GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HELA CELL LINE; HETEROZYGOTE; HUMAN; ITALIAN (CITIZEN); MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROPATHOLOGY; ONSET AGE; PARKINSONISM; PRIMARY PARKINSONISM; PROGRESSIVE SUPRANUCLEAR PALSY; RNA PROCESSING; SHY DRAGER SYNDROME; SPLICING MUTATION; VERY ELDERLY; CASE CONTROL STUDY; DEGENERATIVE DISEASE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; ITALY; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; PYRAMIDAL TRACT; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLUCOSYLCERAMIDASE; HUMANS; ITALY; MALE; MIDDLE AGED; NEURODEGENERATIVE DISEASES; PARKINSONIAN DISORDERS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PYRAMIDAL TRACTS; RETROSPECTIVE STUDIES; SUPRANUCLEAR PALSY, PROGRESSIVE;

EID: 84908568615     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2014.09.003     Document Type: Article

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