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特刊社论:“贯穿人类一生的神经遗传性疾病:从婴儿期到成年期”

Editorial for Special Issue: "Neurogenetic Disorders across Human Life: From Infancy to Adulthood".

作者信息

Nóbrega Paulo Ribeiro, Braga-Neto Pedro

机构信息

Division of Neurology, Walter Cantidio University Hospital, Federal University of Ceara, Fortaleza 60430-372, CE, Brazil.

Campus Parque Ecológico, Centro Universitário Christus, Fortaleza 60160-230, CE, Brazil.

出版信息

Brain Sci. 2024 Jan 23;14(2):111. doi: 10.3390/brainsci14020111.

Abstract

This Special Issue assembles papers that highlight different types of neurogenetic disorders that occur throughout human life, from childhood to adulthood, focusing on their natural history, epidemiology, diagnosis, and treatment approaches [...].

摘要

本期特刊汇集了多篇论文,这些论文重点介绍了从儿童期到成年期贯穿人类一生的不同类型神经遗传性疾病,内容聚焦于它们的自然史、流行病学、诊断和治疗方法[……]

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本文引用的文献

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What General Neurologists Should Know about Autoinflammatory Syndromes?
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Nat Rev Neurol. 2023 Jun;19(6):363-370. doi: 10.1038/s41582-023-00811-4. Epub 2023 May 18.
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Genetic epidemiology of familial ALS in Brazil.
Neurobiol Aging. 2021 Jun;102:227.e1-227.e4. doi: 10.1016/j.neurobiolaging.2021.01.007. Epub 2021 Jan 22.
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A case series of hereditary cerebellar ataxias in a highly consanguineous population from Northeast Brazil.
Parkinsonism Relat Disord. 2019 Apr;61:193-197. doi: 10.1016/j.parkreldis.2018.10.027. Epub 2018 Oct 26.
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GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil.
Alzheimer Dis Assoc Disord. 2016 Oct-Dec;30(4):310-317. doi: 10.1097/WAD.0000000000000153.

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