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机译:临床 - 遗传特征和特殊肌肉组织病理学在婴儿DNM1L DNM1L相关线粒体癫痫脑病中
Department of Neurosciences Unit of Muscular and Neurodegenerative Disorders Laboratory of;
Department of Neurosciences Unit of Muscular and Neurodegenerative Disorders Laboratory of;
Department of Clinical Neurosciences Child Neurology UnitFondazione IRCCS Istituto Neurologico;
Department of Chemistry Life Sciences and Environmental SustainabilityUniversity of ParmaParma;
Department of Molecular Neurogenetics Unit of Medical Genetics and NeurogeneticsFondazione IRCCS;
Department of Molecular Neurogenetics Unit of Medical Genetics and NeurogeneticsFondazione IRCCS;
Genetics and Rare Diseases Research DivisionBambino Gesù Children's Hospital IRCCSRome Italy;
Dino Ferrari Centre Unit of Neuromuscular and Rare DisordersFondazione IRCCS Ca' Granda Ospedale;
Division of MetabolismBambino Gesù Children's Hospital IRCCSRome Italy;
Neurophysiology Unit Department of NeuroscienceBambino Gesu' Children's HospitalRome Italy;
Department of Child Neurology and PsychiatryCatholic UniversityRome Italy;
Department of Neurosciences Unit of Muscular and Neurodegenerative Disorders Laboratory of;
Department of Molecular Neurogenetics Unit of Medical Genetics and NeurogeneticsFondazione IRCCS;
Department of Molecular Neurogenetics Unit of Medical Genetics and NeurogeneticsFondazione IRCCS;
Department of Neurosciences Unit of Muscular and Neurodegenerative Disorders Laboratory of;
Department of Neurosciences Unit of Muscular and Neurodegenerative Disorders Laboratory of;
Department of Neurosciences Unit of Muscular and Neurodegenerative Disorders Laboratory of;
Department of Neurosciences Unit of Muscular and Neurodegenerative Disorders Laboratory of;
Department of Neurosciences Unit of Muscular and Neurodegenerative Disorders Laboratory of;
Department of Clinical Neurosciences Child Neurology UnitFondazione IRCCS Istituto Neurologico;
Department of Molecular Neurogenetics Unit of Medical Genetics and NeurogeneticsFondazione IRCCS;
Scientific Direction Research LaboratoriesBambino Gesù Children's Hospital IRCCSRome Italy;
Dino Ferrari Centre Unit of Neuromuscular and Rare DisordersFondazione IRCCS Ca' Granda Ospedale;
Department of Chemistry Life Sciences and Environmental SustainabilityUniversity of ParmaParma;
Department of Molecular Neurogenetics Unit of Medical Genetics and NeurogeneticsFondazione IRCCS;
Department of Neurosciences Unit of Muscular and Neurodegenerative Disorders Laboratory of;
Department of Neurosciences Unit of Muscular and Neurodegenerative Disorders Laboratory of;
DNM1L; epileptic encephalopathy; mitochondrial disorders; mitochondrial dynamics; mitochondrial fission; muscle biopsy;
机译:临床 - 遗传特征和特殊肌肉组织病理学在婴儿DNM1L DNM1L相关线粒体癫痫脑病中
机译:DNM1L DNM1L线粒体脑病心脏受累的新型和致死病例
机译:DNM1L的新型从头显性负突变会损害线粒体裂变,并表现为儿童癫痫性脑病
机译:癫痫脑病的遗传调查:最近的进展
机译:关于通过遗传程序人工特征预测和检测癫痫发作的方法。
机译:DNM1L中的新型从头显性负突变损害线粒体裂变并表现为儿童癫痫性脑病
机译:DNM1L中的双裂突变与缓慢进行的婴儿脑病相关