Literature DB >> 34307755

Severe Early-Onset Parkinsonian Syndrome Caused by PLA2G6 Heterozygous Variants.

Pérola de Oliveira1, Vinicius Montanaro1, Daniel Carvalho2, Bernardo Martins3, Alessandra Ferreira2, Francisco Cardoso4.   

Abstract

Entities:  

Keywords:  akinetic mutism; group VI phospholipases A2; neurodegeneration with brain iron accumulation; parkinsonian disorders

Year:  2021        PMID： 34307755      PMCID： PMC8287174          DOI： 10.1002/mdc3.13230

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  9 in total

1.  PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease.

Authors:  Chin-Song Lu; Szu-Chia Lai; Ruey-Meei Wu; Yi-Hsin Weng; Chia-Ling Huang; Rou-Shayn Chen; Hsiu-Chen Chang; Yah-Huei Wu-Chou; Tu-Hsueh Yeh
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2011-12-27       Impact factor: 3.568

2.  PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort.

Authors:  C-h Shi; B-s Tang; L Wang; Z-y Lv; J Wang; L-z Luo; L Shen; H Jiang; X-x Yan; Q Pan; K Xia; J-f Guo
Journal:  Neurology       Date:  2011-06-22       Impact factor: 9.910

Review 3.  PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.

Authors:  Yu-Pei Guo; Bei-Sha Tang; Ji-Feng Guo
Journal:  Front Neurol       Date:  2018-12-18       Impact factor: 4.003

4.  Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism.

Authors:  H Yoshino; H Tomiyama; N Tachibana; K Ogaki; Y Li; M Funayama; T Hashimoto; S Takashima; N Hattori
Journal:  Neurology       Date:  2010-10-12       Impact factor: 9.910

Review 5.  Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.

Authors:  Connie Marras; Anthony Lang; Bart P van de Warrenburg; Carolyn M Sue; Sarah J Tabrizi; Lars Bertram; Saadet Mercimek-Mahmutoglu; Darius Ebrahimi-Fakhari; Thomas T Warner; Alexandra Durr; Birgit Assmann; Katja Lohmann; Vladimir Kostic; Christine Klein
Journal:  Mov Disord       Date:  2016-04       Impact factor: 10.338

6.  Characterization of PLA2G6 as a locus for dystonia-parkinsonism.

Authors:  Coro Paisan-Ruiz; Kailash P Bhatia; Abi Li; Dena Hernandez; Mary Davis; Nick W Wood; John Hardy; Henry Houlden; Andrew Singleton; Susanne A Schneider
Journal:  Ann Neurol       Date:  2009-01       Impact factor: 11.274

7.  Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease.

Authors:  Rosangela Ferese; Simona Scala; Francesca Biagioni; Emiliano Giardina; Stefania Zampatti; Nicola Modugno; Claudio Colonnese; Marianna Storto; Francesco Fornai; Giuseppe Novelli; Stefano Ruggieri; Stefano Gambardella
Journal:  Front Neurol       Date:  2018-07-10       Impact factor: 4.003

8.  Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review.

Authors:  Ting Shen; Jing Hu; Yasi Jiang; Shuai Zhao; Caixiu Lin; Xinzhen Yin; Yaping Yan; Jiali Pu; Hsin-Yi Lai; Baorong Zhang
Journal:  Front Neurol       Date:  2019-08-21       Impact factor: 4.003

9.  Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.

Authors:  Yung-Tsai Chu; Han-Yi Lin; Pei-Lung Chen; Chin-Hsien Lin
Journal:  BMC Neurol       Date:  2020-03-17       Impact factor: 2.474
  9 in total

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