Reply to: Juvenile PLA2G6-parkinsonism due to Indian 'Asian' p.R741Q mutation, and response to STN DBS
- PMID: 35152491
- DOI: 10.1002/mds.28955
Reply to: Juvenile PLA2G6-parkinsonism due to Indian 'Asian' p.R741Q mutation, and response to STN DBS
Keywords: PLA2G6; NBIA; dyskinesia; dystonic spasm; parkinsonism.
Comment on
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Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.Mov Disord. 2022 Jan;37(1):148-161. doi: 10.1002/mds.28807. Epub 2021 Oct 8. Mov Disord. 2022. PMID: 34622992
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Juvenile PLA2G6-Parkinsonism Due to Indian 'Asian' p.R741Q Mutation, and Response to STN DBS.Mov Disord. 2022 Mar;37(3):657-658. doi: 10.1002/mds.28950. Epub 2022 Feb 3. Mov Disord. 2022. PMID: 35113461 No abstract available.
References
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- Ravat P, Shinde S, Shinde SR, et al. Juvenile PLA2G6-Parkinsonism due to indian ‘Asian’ p.R741Q mutation, and response to STN DBS. Mov Disord 2022;37(3):657-658.
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- Magrinelli F, Mehta S, Di Lazzaro G, et al. Dissecting the phenotype and genotype of PLA2G6-related parkinsonism. Mov Disord 2022;37(1):148-161.
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- de Oliveira P, Montanaro V, Carvalho D, Martins B, Ferreira A, Cardoso F. Severe early-onset parkinsonian syndrome caused by PLA2G6 heterozygous variants. Mov Disord Clin Pract 2021;8(5):794-796.
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- Cavestro C, Panteghini C, Reale C, et al. Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation. Neurogenetics 2021;22(4):347-351.
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- Sakhardande KA, Reddi VSK, Mishra S, et al. Homozygous PLA2G6 (PARK 14) gene mutation associated neuropsychiatric phenotypes from southern India. Parkinsonism Relat Disord 2021;90:49-51.
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