Haploinsufficiency at the α-synuclein gene underlies phenotypic severity in familial Parkinson's disease

Brain

Volumn 126, Issue 1, 2003, Pages 32-42

  Kobayashi, Hirokazu ^a   Krüger, Rejko ^b   Markopoulou, Katerina ^c   Wszolek, Zbigniew ^c   Chase, Bruce ^c   Taka, Hikaru ^a   Mineki, Reiko ^a   Murayama, Kimie ^a   Riess, Olaf ^b   Mizuno, Yoshikuni ^a   Hattori, Nobutaka ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c NONE

Author keywords

synuclein; Familial Parkinson's disease; G88C and G209A mutations; Haploinsufficiency

Indexed keywords

ALANINE; ALPHA SYNUCLEIN; MESSENGER RNA; PROLINE;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; GERMANY; GREECE; HAPLOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL; MAJOR CLINICAL STUDY; MALE; MASS SPECTROMETRY; MISSENSE MUTATION; PARKINSON DISEASE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

AGE OF ONSET; AGED; ALPHA-SYNUCLEIN; CELL LINE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DISEASE PROGRESSION; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HETEROZYGOTE; HUMANS; LYMPHOCYTES; MIDDLE AGED; NERVE TISSUE PROTEINS; PARKINSON DISEASE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SYNUCLEINS;

EID: 0037228874     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awg010     Document Type: Article

References (23)

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