PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease-Reference-Cited by-同舟云学术

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

Published:2011-12-27 Issue:2 Volume:159B Page:183-191
ISSN:1552-4841
Container-title:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Lu Chin-Song,Lai Szu-Chia,Wu Ruey-Meei,Weng Yi-Hsin,Huang Chia-Ling,Chen Rou-Shayn,Chang Hsiu-Chen,Wu-Chou Yah-Huei,Yeh Tu-Hsueh

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.b.32012/fullpdf

Reference30 articles.

1. Frequency of known mutations in early-onset Parkinson disease: Implication for genetic counseling: the consortium on risk for early onset Parkinson disease study;Alcalay;Arch Neurol,2010

2. Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN);Bower;Mov Disord,2011

3. Prediction of human mRNA donor and acceptor sites from the DNA sequence;Brunak;J Mol Biol,1991

4. Alternative pre-mRNA splicing of the sterol 27-hydroxylase gene (CYP 27) caused by a G to A mutation at the last nucleotide of exon 6 in a patient with cerebrotendinous xanthomatosis (CTX);Chen;J Lipid Res,1998

5. Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis;Crompton;Mol Genet Metab,2010

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1. A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review;Frontiers in Neurology;2024-04-18

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4. Effect of PLA2G6 and SMPD1 Variants on the Lipid Metabolism in the Cerebrospinal Fluid of Patients with Parkinson's Disease: A Non-targeted Lipidomics Study;Neurology and Therapy;2023-09-14

5. Dramatic improvement of a rare patient with PARK-14 linked young-onset parkinsonism after STN-DBS therapy;Neurological Sciences;2023-08-29

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