Early-onset parkinsonism linked to combined heterozygous mutations in PANK2 and PLA2G6: A case report
Author:
Funder
National Natural Science Foundation of China
Publisher
Elsevier BV
Subject
Neurology (clinical),Geriatrics and Gerontology,Neurology
Reference5 articles.
1. MR relaxometry and 1H MR spectroscopy for the determination of iron and metabolite concentrations in PKAN patients;Hájek;Eur. Radiol.,2005
2. Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy;Wu;Eur. J. Neurol.,2009
3. 153 PLA2G6 mutations in a Taiwanese cohort of early onset parkinsonism;Wu-Chou;Park. Relat. Disord.,2009
4. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations;Paisán-Ruiz;Mov. Disord.,2010
5. PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort;Shi;Neurol.,2011
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1. Reply to: Juvenile PLA2G6 ‐parkinsonism due to Indian ‘Asian’ p.R741Q mutation, and response to STN DBS;Movement Disorders;2022-02-13
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