首页> Neurogenetics> Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.

Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.

导出 OA

翻译打印收藏纠错

第一作者： Julia,Macintosh

第一单位： Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.;Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC, Canada.

作者： Julia,Macintosh ^[1] ; Alexa,Derksen ^[1] ; Chantal,Poulin ^[2] ; Nancy,Braverman ^[3] ; Adeline,Vanderver ^[4] ; Isabelle,Thiffault ^[5] ; Steffen,Albrecht ^[6] ; Geneviève,Bernard ^[7]

作者单位： Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.;Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC, Canada. ^[1] Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.;Department of Pediatrics, McGill University, Montreal, QC, Canada.;Department of Pediatrics, Division of Pediatric Neurology, Montreal Children's Hospital, Montreal, QC, Canada. ^[2] Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC, Canada.;Department of Pediatrics, McGill University, Montreal, QC, Canada.;Division of Medical Genetics, Montreal Children's Hospital, Montreal, QC, Canada.;Department of Human Genetics, McGill University, Montreal, QC, Canada. ^[3] Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Department of Neurology, Perlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. ^[4] Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA.;University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.;Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA. ^[5] Department of Pathology, McGill University, Montreal, QC, Canada. ^[6] Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada. genevieve.bernard@mcgill.ca.;Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC, Canada. genevieve.bernard@mcgill.ca.;Department of Pediatrics, McGill University, Montreal, QC, Canada. genevieve.bernard@mcgill.ca.;Department of Human Genetics, McGill University, Montreal, QC, Canada. genevieve.bernard@mcgill.ca.;Department Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, QC, Canada. genevieve.bernard@mcgill.ca. ^[7]

关键词 Exome sequencing Intracranial calcifications NRROS Pediatric neurodegeneration

医学主题词钙质沉着症(Calcinosis);人类(Humans);巨噬细胞(Macrophages);神经变性疾病(Neurodegenerative Diseases);表型(Phenotype)

DOI 10.1007/s10048-022-00683-8

PMID 35099671

发布时间 2023-04-02

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交