Novel splice-site mutations and a large intragenic deletion inPLA2G6associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy-Reference-Cited by-同舟云学术

Novel splice-site mutations and a large intragenic deletion inPLA2G6associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy

Published:2010-02-27 Issue:5 Volume:78 Page:432-440
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Tonelli A,Romaniello R,Grasso R,Cavallini A,Righini A,Bresolin N,Borgatti R,Bassi MT

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01417.x/fullpdf

Reference25 articles.

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

2. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN);Kurian;Neurology,2008

3. Neurodegeneration associated with genetic defects in phospholipase A(2);Gregory;Neurology,2008

4. Clinical and genetic delineation of neurodegeneration with brain iron accumulation;Gregory;J Med Genet,2009

5. Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum;Mubaidin;J Med Genet,2003

Cited by 30 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification and bioinformatics analysis of a novel mutation in PLA2G6 gene in a patient with neurodegenerative disorder;Gene Reports;2023-12

2. The role of the PLA2G6 gene in neurodegenerative diseases;Ageing Research Reviews;2023-08

3. Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation;neurogenetics;2021-08-13

4. Inherited disorders of complex lipid metabolism: A clinical review;Journal of Inherited Metabolic Disease;2021-03-02

5. Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA);Antioxidants;2020-10-20