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Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.

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第一作者： Tommaso,Pippucci

第一单位： Medical Genetics Unit Polyclinic Sant'Orsola-Malpighi University Hospital Bologna Italy.

作者： Tommaso,Pippucci ^[1] ; Laura,Licchetta ^[2] ; Sara,Baldassari ^[3] ; Caterina,Marconi ^[3] ; Monica,De Luise ^[3] ; Candace,Myers ^[4] ; Elena,Nardi ^[5] ; Federica,Provini ^[2] ; Cinzia,Cameli ^[6] ; Raffaella,Minardi ^[2] ; Elena,Bacchelli ^[6] ; Lucio,Giordano ^[7] ; Giovanni,Crichiutti ^[8] ; Giuseppe,d'Orsi ^[9] ; Marco,Seri ^[10] ; Giuseppe,Gasparre ^[3] ; Heather C,Mefford ^[4] ; Paolo,Tinuper ^[2] ; Francesca,Bisulli ^[2] ; Collaborative Group of Italian League Against Epilepsy (LICE) Genetic Commission

作者单位： Medical Genetics Unit Polyclinic Sant'Orsola-Malpighi University Hospital Bologna Italy. ^[1] IRCCS Istituto delle Scienze Neurologiche di Bologna Bologna Italy.;Department of Biomedical and Neuromotor Sciences (DIBINEM) University of Bologna Bologna Italy. ^[2] Department of Biomedical and Surgical Sciences (DIMEC) University of Bologna Bologna Italy. ^[3] Division of Genetic Medicine Department of Pediatrics University of Washington Seattle Washington. ^[4] Department of Statistical Sciences "Paolo Fortunati" University of Bologna Bologna Italy. ^[5] Department of Pharmacy and Biotechnology University of Bologna Bologna Italy. ^[6] Neuropsychiatric Department Spedali Civili Brescia Italy. ^[7] Division of Pediatrics Department of Medicine University of Udine Udine Italy. ^[8] Epilepsy Center Clinic of Nervous System Diseases University of Foggia Riuniti Hospital Foggia Italy. ^[9] Medical Genetics Unit Polyclinic Sant'Orsola-Malpighi University Hospital Bologna Italy.;Department of Biomedical and Surgical Sciences (DIMEC) University of Bologna Bologna Italy. ^[10]

医学主题词青少年(Adolescent);成年人(Adult);儿童(Child);儿童, 学龄前(Child, Preschool);癫痫, 部分性(Epilepsies, Partial);女(雌)性(Female);GTP酶激活蛋白质类(GTPase-Activating Proteins);疾病遗传易感性(Genetic Predisposition to Disease);染色体结构变异(Genomic Structural Variation);人类(Humans);婴儿(Infant);男(雄)性(Male);中年人(Middle Aged);多蛋白复合物(Multiprotein Complexes);信号传导(Signal Transduction)

DOI 10.1002/acn3.722

PMID 30911571

发布时间 2024-07-15

基金项目

R01 NS069605/NS/NINDS NIH HHS/United States

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Annals of clinical and translational neurology

2019年6卷3期

475-485页

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Annals of clinical and translational neurology

2019年6卷3期

475-485页

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Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.

Annals of clinical and translational neurology

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Annals of clinical and translational neurology

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Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.

Annals of clinical and translational neurology

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Annals of clinical and translational neurology

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