Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.

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作者： Peter,Roos ^[1] ; Peter,Johannsen ^[1] ; Suzanne G,Lindquist ^[2] ; Jeremy M,Brown ^[1] ; Gunhild,Waldemar ^[3] ; Morten,Duno ^[4] ; Troels T,Nielsen ^[1] ; Esben,Budtz-Jørgensen ^[3] ; Susanne,Gydesen ^[1] ; Ida E,Holm ^[5] ; John,Collinge ^[6] ; Adrian M,Isaacs ^[7] ; Frontotemporal dementia Research in Jutland Association (FReJA) consortium ^[8] ; Jørgen E,Nielsen ^[9]

作者单位： Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark. ^[1] Medical & Science, Novo Nordisk A/S, Søborg, Denmark. ^[2] Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Denmark. ^[3] Department of Neurology, Addenbrooke's Hospital, Cambridge, UK. ^[4] Section of Biostatistics, Department of Public Health, University of Copenhagen, Denmark. ^[5] Skovhus Psychiatric Hospital, Nykøbing Sjaelland, Denmark. ^[6] Department of Pathology, Aalborg University Hospital, Randers, Denmark. ^[7] MRC Prion Unit at UCL, UCL Institute of Prion Diseases, Courtauld Building, London, UK. ^[8] Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK. ^[9] UK Dementia Research Institute at UCL, UCL Institute of Neurology, Queen Square, London, UK. ^[10]

关键词 CHMP2B Frontotemporal Dementia Hereditary degenerative disorders

主题词队列研究(Cohort Studies);转运所需的胞内分选复合物(Endosomal Sorting Complexes Required for Transport);额颞叶痴呆(Frontotemporal Dementia);人类(Humans);突变(Mutation);神经组织蛋白质类(Nerve Tissue Proteins);回顾性研究(Retrospective Studies)

DOI 10.1111/ane.13578

PMID 34997757

发布时间 2022-05-31

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