Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.

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作者： Gianluca,Floris ^[1] ; Giuseppe,Borghero ^[1] ; Francesca,Di Stefano ^[1] ; Rosanna,Melis ^[1] ; Roberta,Puddu ^[1] ; Laura,Fadda ^[1] ; Maria R,Murru ^[2] ; Daniela,Corongiu ^[2] ; Stefania,Cuccu ^[2] ; Stefania,Tranquilli ^[2] ; Antonino,Cannas ^[1] ; Maria G,Marrosu ^[2] ; Adriano,Chiò ^[3] ; Francesco,Marrosu ^[1]

作者单位： a Department of Neurology , Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari , Cagliari . ^[1] b Multiple Sclerosis Centre Laboratory , University of Cagliari , Cagliari , and. ^[2] c ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience , University of Torino, AOU Città della Salute e della Scienza, Torino, and Neuroscience Institute of Torino (NIT) , Torino , Italy. ^[3]

关键词 ALS C9orf72 FTD Parkinsonism phenotype variability

主题词老年人(Aged);肌萎缩侧索硬化(Amyotrophic Lateral Sclerosis);队列研究(Cohort Studies);家庭卫生(Family Health);女(雌)性(Female);额颞叶痴呆(Frontotemporal Dementia);基因型(Genotype);人类(Humans);意大利(Italy);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);帕金森障碍(Parkinsonian Disorders);表型(Phenotype);蛋白质类(Proteins);tau蛋白质类(tau Proteins)

DOI 10.3109/21678421.2015.1111904

PMID 26575405

发布时间 2022-03-31

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Amyotrophic lateral sclerosis & frontotemporal degeneration

2016年17卷3-4期

245-8页

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Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.

Amyotrophic lateral sclerosis & frontotemporal degeneration

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Amyotrophic lateral sclerosis & frontotemporal degeneration

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Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.

Amyotrophic lateral sclerosis & frontotemporal degeneration

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Amyotrophic lateral sclerosis & frontotemporal degeneration

相关期刊

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