Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.-论文-万方医学网

作者： V,Bonifati ^[1] ; C F,Rohé ; G J,Breedveld ; E,Fabrizio ; M,De Mari ; C,Tassorelli ; A,Tavella ; R,Marconi ; D J,Nicholl ; H F,Chien ; E,Fincati ; G,Abbruzzese ; P,Marini ; A,De Gaetano ; M W,Horstink ; J A,Maat-Kievit ; C,Sampaio ; A,Antonini ; F,Stocchi ; P,Montagna ; V,Toni ; M,Guidi ; A,Dalla Libera ; M,Tinazzi ; F,De Pandis ; G,Fabbrini ; S,Goldwurm ; A,de Klein ; E,Barbosa ; L,Lopiano ; E,Martignoni ; P,Lamberti ; N,Vanacore ; G,Meco ; B A,Oostra ; Italian Parkinson Genetics Network

作者单位： Department of Clinical Genetics, Erasmus MC Rotterdam, The Netherlands. v.bonifati@erasmusmc.nl ^[1]

主题词青少年(Adolescent);成年人(Adult);发病年龄(Age of Onset);儿童(Child);DNA突变分析(DNA Mutational Analysis);DNA, 互补(DNA, Complementary);女(雌)性(Female);基因频率(Gene Frequency);疾病遗传易感性(Genetic Predisposition to Disease);基因检测(Genetic Testing);基因组(Genome);基因型(Genotype);人类(Humans);意大利(Italy);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);突变, 误义(Mutation, Missense);帕金森病(Parkinson Disease);表型(Phenotype);多态现象, 遗传(Polymorphism, Genetic);蛋白激酶类(Protein Kinases);序列同源性, 氨基酸(Sequence Homology, Amino Acid)

DOI 10.1212/01.wnl.0000167546.39375.82

PMID 16009891

发布时间 2022-01-29

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Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

Neurology

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Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

Neurology

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Neurology

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