Literature DB >> 35005075

Unusual Presentation of PLA2G6-Related Neurodegeneration with Retinal Vasculitis.

Sahil Mehta1, Aastha Takkar1, Deependra Singh1, Aniruddha Aggarwal2,3, Vivek Lal1.   

Abstract

Entities:  

Keywords:  NBIA; PLA2G6; dystonia; parkinsonism; retinal vasculitis

Year:  2021        PMID： 35005075      PMCID： PMC8721824          DOI： 10.1002/mdc3.13364

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


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  14 in total

1.  Calcium-independent phospholipase A2 regulates retinal pigment epithelium proliferation and may be important in the pathogenesis of retinal diseases.

Authors:  M Kolko; J F Kiilgaard; J Wang; K A Poulsen; J R Andreasen; M la Cour; M H Nissen; S Heegaard; N G Bazan; J U Prause
Journal:  Exp Eye Res       Date:  2009-04-18       Impact factor: 3.467

2.  PLA2G6 -Associated Neurodegeneration: Report of a Novel Mutation in Two Siblings with Strikingly Different Clinical Presentation.

Authors:  Paula Pérez-Torre; Alfonso Escobar Villalba; Pedro Martínez Ulloa; Michal Kawiorski; Adriano Jiménez-Escrig; Eulalia Bazán; Rafael Gonzalo-Gobernado; Antonio S Herranz
Journal:  Mov Disord Clin Pract       Date:  2016-11-04

3.  Visual and ocular motor function in the atypical form of neurodegeneration with brain iron accumulation type I.

Authors:  Joana Jesus-Ribeiro; Cláudia Farinha; Margarida Amorim; Anabela Matos; Aldina Reis; João Lemos; Miguel Castelo-Branco; Cristina Januário
Journal:  Br J Ophthalmol       Date:  2017-05-09       Impact factor: 4.638

4.  Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy.

Authors:  Brenda Polster; Moira Crosier; Susan Lindsay; Susan Hayflick
Journal:  Brain Res Bull       Date:  2010-09-09       Impact factor: 4.077

Review 5.  Neurodegeneration with brain iron accumulation.

Authors:  Susan J Hayflick; Manju A Kurian; Penelope Hogarth
Journal:  Handb Clin Neurol       Date:  2018

6.  Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report.

Authors:  Daniele Frattini; Nardo Nardocci; Rosario Pascarella; Celeste Panteghini; Barbara Garavaglia; Carlo Fusco
Journal:  Brain Dev       Date:  2014-05-05       Impact factor: 1.961

7.  Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

Authors:  M A Kurian; N V Morgan; L MacPherson; K Foster; D Peake; R Gupta; S G Philip; C Hendriksz; J E V Morton; H M Kingston; E M Rosser; E Wassmer; P Gissen; E R Maher
Journal:  Neurology       Date:  2008-04-29       Impact factor: 9.910

8.  Genetic ablation of PLA2G6 in mice leads to cerebellar atrophy characterized by Purkinje cell loss and glial cell activation.

Authors:  Zhengshan Zhao; Jing Wang; Chunying Zhao; Weina Bi; Zhenyu Yue; Zhongmin Alex Ma
Journal:  PLoS One       Date:  2011-10-28       Impact factor: 3.240

9.  Homozygous PLA2G6 (PARK 14) gene mutation associated neuropsychiatric phenotypes from southern India.

Authors:  Kasturi Atmaram Sakhardande; Venkata Senthil Kumar Reddi; Shree Mishra; Karthick Navin; Aashraya Ramu; Gautham Arunachal; Sandhya Mangalore; Ravi Yadav; Sanjeev Jain
Journal:  Parkinsonism Relat Disord       Date:  2021-07-28       Impact factor: 4.891

10.  Involvement of plasmalogens in post-natal retinal vascular development.

Authors:  Sarah Saab; Bénédicte Buteau; Laurent Leclère; Alain M Bron; Catherine P Creuzot-Garcher; Lionel Bretillon; Niyazi Acar
Journal:  PLoS One       Date:  2014-06-25       Impact factor: 3.240
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