A diagnosis of progressive myoclonic ataxia guided by blood biomarkers: Expert commentary.

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第一作者： L,Pollini

第一单位： Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy; Expertise Centre Movement Disorders Groningen, University Medical Center Groningen, Groningen, the Netherlands; Department of Neurology, University Medical Centre Groningen, Groningen, the Netherlands.

作者： L,Pollini ^[1] ; M A J,Tijssen ^[2]

作者单位： Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy; Expertise Centre Movement Disorders Groningen, University Medical Center Groningen, Groningen, the Netherlands; Department of Neurology, University Medical Centre Groningen, Groningen, the Netherlands. ^[1] Expertise Centre Movement Disorders Groningen, University Medical Center Groningen, Groningen, the Netherlands; Department of Neurology, University Medical Centre Groningen, Groningen, the Netherlands. Electronic address: m.a.j.de.koning-tijssen@umcg.nl. ^[2]

关键词 LIMP2 Neurophysiology Next generation sequencing Progressive myoclonus ataxia SCARB2

主题词共济失调(Ataxia);人类(Humans);肌阵挛性癫痫, 进行性(Myoclonic Epilepsies, Progressive);肌阵挛(Myoclonus);脊髓小脑变性(Spinocerebellar Degenerations)

DOI 10.1016/j.parkreldis.2021.12.001

PMID 34896024

发布时间 2022-04-18

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