Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy.

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第一作者： Laura,Licchetta

第一单位： IRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of the ERN EpiCARE, Bologna, Italia.;Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italia.

作者： Laura,Licchetta ^[1] ; Lorenzo,Ferri ^[2] ; Chiara,La Morgia ^[1] ; Corrado,Zenesini ^[3] ; Leonardo,Caporali ^[3] ; Maria,Lucia Valentino ^[1] ; Raffaella,Minardi ^[3] ; Daniela,Fulitano ^[4] ; Lidia,Di Vito ^[3] ; Barbara,Mostacci ^[3] ; Lara,Alvisi ^[1] ; Patrizia,Avoni ^[1] ; Rocco,Liguori ^[1] ; Paolo,Tinuper ^[1] ; Francesca,Bisulli ^[1] ; Valerio,Carelli ^[1]

作者单位： IRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of the ERN EpiCARE, Bologna, Italia.;Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italia. ^[1] Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italia. ^[2] IRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of the ERN EpiCARE, Bologna, Italia. ^[3] Neurology Unit, Rovigo, Italy. ^[4]

关键词 MT-ATP6 MT-ATP6 epilepsy maternally inherited Leigh's syndrome (MILS)neuropathy, ataxia, retinitis pigmentosa (NARP)progressive myoclonic epilepsy (PME)

主题词成年人(Adult);脑电波(Brain Waves);儿童, 学龄前(Child, Preschool);女(雌)性(Female);人类(Humans);Leigh病(Leigh Disease);男(雄)性(Male);中年人(Middle Aged);线粒体肌病(Mitochondrial Myopathies);线粒体质子转运ATP酶(Mitochondrial Proton-Translocating ATPases);系谱(Pedigree);色素性视网膜炎(Retinitis Pigmentosa);疾病严重程度指数(Severity of Illness Index)

DOI 10.1002/acn3.51259

PMID 33476484

发布时间 2021-11-02

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Annals of clinical and translational neurology

2021年8卷3期

704-710页

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Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy.

Annals of clinical and translational neurology

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Annals of clinical and translational neurology

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Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy.

Annals of clinical and translational neurology

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Annals of clinical and translational neurology

相关期刊

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