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Neurological Sciences

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01-03-2022 | Torticollis Spasticus | Letter to the Editor

A case of neurodegenerative disorder caused by PLA2G6 compound heterozygous pathogenic variant and SCA17 pathogenic variant

Authors: Xiaoli Hao, Qijie Yang, Lu Shen, Juan Du

Published in: Neurological Sciences | Issue 3/2022

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Dear Editor-in-Chief, …

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Shen T, Hu J, Jiang Y, Zhao S, Lin C, Yin X, Yan Y, Pu J, Lai HY, Zhang B (2019) Early-onset Parkinson’s disease caused by PLA2G6 compound heterozygous mutation, a case report and literature review. Front Neurol 10:915. https://doi.org/10.3389/fneur.2019.00915CrossRefPubMedPubMedCentral

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Title: A case of neurodegenerative disorder caused by PLA2G6 compound heterozygous pathogenic variant and SCA17 pathogenic variant
Authors: Xiaoli Hao
Qijie Yang
Lu Shen
Juan Du
Publication date: 01-03-2022
Publisher: Springer International Publishing
Keywords: Torticollis Spasticus
Dystonia
Levodopa
Spinocerebellar Ataxia
Published in: Neurological Sciences / Issue 3/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-021-05821-y

At a glance: The STEP trials

Springer Medicine

A case of neurodegenerative disorder caused by PLA2G6 compound heterozygous pathogenic variant and SCA17 pathogenic variant

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

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