Comprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: Identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants

Parkinsonism and Related Disorders

Volumn 19, Issue 10, 2013, Pages 897-900

  Zhang, Lei ^a,b   Quadri, Marialuisa ^a   Guedes, Leonor Correia ^c   Coelho, Miguel ^c   Valadas, Anabela ^c   Mestre, Tiago ^c   Lobo, Patrícia Pita ^c   Rosa, Mário Miguel ^c,d   Simons, Erik ^a   Oostra, Ben A ^a   Ferreira, Joaquim J ^c   Bonifati, Vincenzo ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b THE SECOND HOSPITAL OF JILIN UNIVERSITY   (China)

^c UNIVERSITY OF LISBON   (Portugal)

^d INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

Author keywords

GBA; Genetics; LRRK2; Parkinson's disease; Portugal; R1441H

Indexed keywords

ARGININE; GLUCOSYLCERAMIDASE; GLYCINE; HISTIDINE; LEUCINE RICH REPEAT KINASE 2; SERINE;

AMINO ACID SUBSTITUTION; ARTICLE; EXON; FEMALE; GBA GENE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INTRON; LRRK2 GENE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PARKINSON DISEASE; PORTUGAL; PRIORITY JOURNAL;

GBA; GENETICS; LRRK2; PARKINSON'S DISEASE; PORTUGAL; R1441H;

ADULT; AGE OF ONSET; AGED; COHORT STUDIES; EXONS; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HETEROZYGOTE; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PARKINSON DISEASE; PEDIGREE; PENETRANCE; PORTUGAL; PROTEIN-SERINE-THREONINE KINASES;

EID: 84883290105     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2013.05.003     Document Type: Article

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