Homozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: Further evidence of a fourth phenotype of PLA2G6-associated neurodegeneration-Reference-Cited by-同舟云学术

Homozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: Further evidence of a fourth phenotype of PLA2G6-associated neurodegeneration

Published:2015-04 Issue:4 Volume:21 Page:420-422
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Xie Fei,Cen Zhidong,Ouyang Zhiyuan,Wu Sheng,Xiao Jianfeng,Luo Wei

Funder

National Natural Science Foundation of China

National Science & Technology Pillar Program

Program for Zhejiang Leading Team of Science and Technology Innovation

Natural Science Foundation of Zhejiang Province

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference5 articles.

1. PLA2G6 mutation underlies infantile neuroaxonal dystrophy;Khateeb;Am J Hum Genet,2006

2. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron;Morgan;Nat Genet,2006

3. Characterization of PLA2G6 as a locus for dystonia-parkinsonism;Paisan-Ruiz;Ann Neurol,2009

4. PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort;Shi;Neurology,2011

5. PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease;Lu;Am J Med Genet B Neuropsychiatr Genet,2012

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2. Case Report: A case of PLA2G6 gene-related early-onset Parkinson's disease and review of literature;Frontiers in Neuroscience;2022-12-09

3. Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration;Frontiers in Neurology;2022-07-13

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