TY - JOUR AU - Guo, Y. P. AU - Tang, B. S. AU - Guo, J. F. PY - 2018 DA - 2018// TI - PLA2G6-associated Neurodegeneration (PLAN): review of clinical phenotypes and genotypes JO - Front Neurol VL - 9 UR - https://doi.org/10.3389/fneur.2018.01100 DO - 10.3389/fneur.2018.01100 ID - Guo2018 ER - TY - JOUR AU - Darling, A. AU - Aguilera-Albesa, S. AU - Tello, C. A. AU - Serrano, M. AU - Tomás, M. AU - Camino-León, R. PY - 2019 DA - 2019// TI - PLA2G6-associated neurodegeneration: new insights into brain abnormalities and disease progression JO - Parkinsonism Relat Disord VL - 61 UR - https://doi.org/10.1016/j.parkreldis.2018.10.013 DO - 10.1016/j.parkreldis.2018.10.013 ID - Darling2019 ER - TY - JOUR AU - Paisan-Ruiz, C. AU - Bhatia, K. P. AU - Li, A. AU - Hernandez, D. AU - Davis, M. AU - Wood, N. W. PY - 2009 DA - 2009// TI - Characterization of PLA2G6 as a locus for dystonia-parkinsonism JO - Ann Neurol VL - 65 UR - https://doi.org/10.1002/ana.21415 DO - 10.1002/ana.21415 ID - Paisan-Ruiz2009 ER - TY - JOUR AU - Hayflick, S. J. AU - Kurian, M. A. AU - Hogarth, P. PY - 2018 DA - 2018// TI - Neurodegeneration with brain iron accumulation JO - Handb Clin Neurol VL - 147 UR - https://doi.org/10.1016/B978-0-444-63233-3.00019-1 DO - 10.1016/B978-0-444-63233-3.00019-1 ID - Hayflick2018 ER - TY - JOUR AU - Fan, S. P. AU - Lee, N. C. AU - Lin, C. H. PY - 2020 DA - 2020// TI - Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene JO - J Formos Med Assoc VL - 119 UR - https://doi.org/10.1016/j.jfma.2019.07.017 DO - 10.1016/j.jfma.2019.07.017 ID - Fan2020 ER - TY - JOUR AU - Shi, C. H. AU - Tang, B. S. AU - Wang, L. AU - Lv, Z. Y. AU - Wang, J. AU - Luo, L. Z. PY - 2011 DA - 2011// TI - PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort JO - Neurology VL - 77 UR - https://doi.org/10.1212/WNL.0b013e318221acd3 DO - 10.1212/WNL.0b013e318221acd3 ID - Shi2011 ER - TY - JOUR AU - Xie, F. AU - Cen, Z. AU - Ouyang, Z. AU - Wu, S. AU - Xiao, J. AU - Luo, W. PY - 2015 DA - 2015// TI - Homozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: further evidence of a fourth phenotype of PLA2G6-associated neurodegeneration JO - Parkinsonism Relat Disord VL - 21 UR - https://doi.org/10.1016/j.parkreldis.2015.01.012 DO - 10.1016/j.parkreldis.2015.01.012 ID - Xie2015 ER - TY - JOUR AU - Lu, C. S. AU - Lai, S. C. AU - Wu, R. M. AU - Weng, Y. H. AU - Huang, C. L. AU - Chen, R. S. PY - 2012 DA - 2012// TI - PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease JO - Am J Med Genet B Neuropsychiatr Genet VL - 159B UR - https://doi.org/10.1002/ajmg.b.32012 DO - 10.1002/ajmg.b.32012 ID - Lu2012 ER - TY - JOUR AU - Chen, Y. J. AU - Chen, Y. C. AU - Dong, H. L. AU - Li, L. X. AU - Ni, W. AU - Li, H. F. PY - 2018 DA - 2018// TI - Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration JO - Parkinsonism Relat Disord VL - 49 UR - https://doi.org/10.1016/j.parkreldis.2018.02.010 DO - 10.1016/j.parkreldis.2018.02.010 ID - Chen2018 ER - TY - JOUR AU - Ji, Y. AU - Li, Y. AU - Shi, C. AU - Gao, Y. AU - Yang, J. AU - Liang, D. PY - 2019 DA - 2019// TI - Identification of a novel mutation in PLA2G6 gene and phenotypic heterogeneity analysis of PLA2G6-related neurodegeneration JO - Parkinsonism Relat Disord VL - 65 UR - https://doi.org/10.1016/j.parkreldis.2019.04.002 DO - 10.1016/j.parkreldis.2019.04.002 ID - Ji2019 ER - TY - JOUR AU - Sina, F. AU - Shojaee, S. AU - Elahi, E. AU - Paisan-Ruiz, C. PY - 2009 DA - 2009// TI - R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family JO - Eur J Neurol VL - 16 UR - https://doi.org/10.1111/j.1468-1331.2008.02356.x DO - 10.1111/j.1468-1331.2008.02356.x ID - Sina2009 ER - TY - JOUR AU - Agarwal, P. AU - Hogarth, P. AU - Hayflick, S. AU - MacLeod, P. AU - Kuriakose, R. AU - McKenzie, J. PY - 2012 DA - 2012// TI - Imaging striatal dopaminergic function in phospholipase A2 group VI-related parkinsonism JO - Mov Disord VL - 27 UR - https://doi.org/10.1002/mds.25160 DO - 10.1002/mds.25160 ID - Agarwal2012 ER - TY - JOUR AU - Virmani, T. AU - Thenganatt, M. A. AU - Goldman, J. S. AU - Kubisch, C. AU - Greene, P. E. AU - Alcalay, R. N. PY - 2014 DA - 2014// TI - Oculogyric crises induced by levodopa in PLA2G6 parkinsonism-dystonia JO - Parkinsonism Relat Disord VL - 20 UR - https://doi.org/10.1016/j.parkreldis.2013.10.016 DO - 10.1016/j.parkreldis.2013.10.016 ID - Virmani2014 ER - TY - JOUR AU - Malaguti, M. C. AU - Melzi, V. AU - Giacopo, R. AU - Monfrini, E. AU - Biase, E. AU - Franco, G. PY - 2015 DA - 2015// TI - A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism JO - Parkinsonism Relat Disord VL - 21 UR - https://doi.org/10.1016/j.parkreldis.2015.01.001 DO - 10.1016/j.parkreldis.2015.01.001 ID - Malaguti2015 ER - TY - JOUR AU - Giri, A. AU - Guven, G. AU - Hanagasi, H. AU - Hauser, A. K. AU - Erginul-Unaltuna, N. AU - Bilgic, B. PY - 2016 DA - 2016// TI - PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism JO - Tremor Other Hyperkinet Mov (N Y) VL - 6 ID - Giri2016 ER - TY - JOUR AU - Ozes, B. AU - Karagoz, N. AU - Schule, R. AU - Rebelo, A. AU - Sobrido, M. J. AU - Harmuth, F. PY - 2017 DA - 2017// TI - PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia JO - Clin Genet VL - 92 UR - https://doi.org/10.1111/cge.13008 DO - 10.1111/cge.13008 ID - Ozes2017 ER - TY - JOUR AU - Koh, K. AU - Ichinose, Y. AU - Ishiura, H. AU - Nan, H. AU - Mitsui, J. AU - Takahashi, J. PY - 2019 DA - 2019// TI - PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia JO - J Hum Genet VL - 64 UR - https://doi.org/10.1038/s10038-018-0519-7 DO - 10.1038/s10038-018-0519-7 ID - Koh2019 ER - TY - JOUR AU - Bohlega, S. A. AU - Al-Mubarak, B. R. AU - Alyemni, E. A. AU - Abouelhoda, M. AU - Monies, D. AU - Mustafa, A. E. PY - 2016 DA - 2016// TI - Clinical heterogeneity of PLA2G6-related parkinsonism: analysis of two Saudi families JO - BMC Res Notes VL - 9 UR - https://doi.org/10.1186/s13104-016-2102-7 DO - 10.1186/s13104-016-2102-7 ID - Bohlega2016 ER - TY - JOUR AU - Rohani, M. AU - Shahidi, G. AU - Vali, F. AU - Lang, A. E. AU - Slow, E. AU - Gahl, W. A. PY - 2018 DA - 2018// TI - Oculogyric crises in PLA2G6 associated neurodegeneration JO - Parkinsonism Relat Disord VL - 52 UR - https://doi.org/10.1016/j.parkreldis.2018.03.010 DO - 10.1016/j.parkreldis.2018.03.010 ID - Rohani2018 ER - TY - JOUR AU - Yoshino, H. AU - Tomiyama, H. AU - Tachibana, N. AU - Ogaki, K. AU - Li, Y. AU - Funayama, M. PY - 2010 DA - 2010// TI - Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism JO - Neurology VL - 75 UR - https://doi.org/10.1212/WNL.0b013e3181f73649 DO - 10.1212/WNL.0b013e3181f73649 ID - Yoshino2010 ER - TY - JOUR AU - Bower, M. A. AU - Bushara, K. AU - Dempsey, M. A. AU - Das, S. AU - Tuite, P. J. PY - 2011 DA - 2011// TI - Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN) JO - Mov Disord VL - 26 UR - https://doi.org/10.1002/mds.23617 DO - 10.1002/mds.23617 ID - Bower2011 ER - TY - JOUR AU - Kim, Y. J. AU - Lyoo, C. H. AU - Hong, S. AU - Kim, N. Y. AU - Lee, M. S. PY - 2015 DA - 2015// TI - Neuroimaging studies and whole exome sequencing of PLA2G6-associated neurodegeneration in a family with intrafamilial phenotypic heterogeneity JO - Parkinsonism Relat Disord VL - 21 UR - https://doi.org/10.1016/j.parkreldis.2015.01.010 DO - 10.1016/j.parkreldis.2015.01.010 ID - Kim2015 ER - TY - JOUR AU - Wirth, T. AU - Weibel, S. AU - Montaut, S. AU - Bigaut, K. AU - Rudolf, G. AU - Chelly, J. PY - 2017 DA - 2017// TI - Severe early-onset impulsive compulsive behavior and psychosis in PLA2G6-related juvenile Parkinson's disease JO - Parkinsonism Relat Disord VL - 41 UR - https://doi.org/10.1016/j.parkreldis.2017.05.014 DO - 10.1016/j.parkreldis.2017.05.014 ID - Wirth2017 ER - TY - JOUR AU - Chiu, C. C. AU - Lu, C. S. AU - Weng, Y. H. AU - Chen, Y. L. AU - Huang, Y. Z. AU - Chen, R. S. PY - 2019 DA - 2019// TI - PARK14 (D331Y) PLA2G6 causes early-onset degeneration of Substantia Nigra dopaminergic neurons by inducing mitochondrial dysfunction, ER stress, Mitophagy impairment and transcriptional Dysregulation in a Knockin mouse model JO - Mol Neurobiol VL - 56 UR - https://doi.org/10.1007/s12035-018-1118-5 DO - 10.1007/s12035-018-1118-5 ID - Chiu2019 ER - TY - JOUR AU - Erro, R. AU - Balint, B. AU - Kurian, M. A. AU - Brugger, F. AU - Picillo, M. AU - Barone, P. PY - 2017 DA - 2017// TI - Early Ataxia and subsequent parkinsonism: PLA2G6 mutations cause a continuum rather than three discrete phenotypes JO - Mov Disord Clin Pract VL - 4 UR - https://doi.org/10.1002/mdc3.12319 DO - 10.1002/mdc3.12319 ID - Erro2017 ER - TY - JOUR AU - Ferini-Strambi, L. AU - Marelli, S. AU - Moccia, M. AU - Erro, R. AU - Ciacci, C. AU - Barone, P. PY - 2011 DA - 2011// TI - Malabsorption is uncommon in restless legs syndrome JO - Mov Disord VL - 26 UR - https://doi.org/10.1002/mds.23615 DO - 10.1002/mds.23615 ID - Ferini-Strambi2011 ER - TY - JOUR AU - Kamel, W. A. AU - Al-Hashel, J. Y. AU - Abdulsalam, A. J. AU - Damier, P. AU - Al-Mejalhem, A. Y. PY - 2019 DA - 2019// TI - PLA2G6-related parkinsonism presenting as adolescent behavior JO - Acta Neurol Belg VL - 119 UR - https://doi.org/10.1007/s13760-018-1003-z DO - 10.1007/s13760-018-1003-z ID - Kamel2019 ER - TY - JOUR AU - Karkheiran, S. AU - Shahidi, G. A. AU - Walker, R. H. AU - Paisan-Ruiz, C. PY - 2015 DA - 2015// TI - PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review JO - Tremor Other Hyperkinet Mov (N Y) VL - 5 ID - Karkheiran2015 ER - TY - JOUR AU - Marras, C. AU - Lang, A. AU - Warrenburg, B. P. AU - Sue, C. M. AU - Tabrizi, S. J. AU - Bertram, L. PY - 2016 DA - 2016// TI - Nomenclature of genetic movement disorders: recommendations of the international Parkinson and movement disorder society task force JO - Mov Disord VL - 31 UR - https://doi.org/10.1002/mds.26527 DO - 10.1002/mds.26527 ID - Marras2016 ER - TY - JOUR AU - Michelis, J. P. AU - Hattingen, E. AU - Gaertner, F. C. AU - Minnerop, M. AU - Träber, F. AU - Biskup, S. PY - 2017 DA - 2017// TI - Expanded phenotype and hippocampal involvement in a novel compound heterozygosity of adult PLA2G6 associated neurodegeneration (PARK14) JO - Parkinsonism Relat Disord VL - 37 UR - https://doi.org/10.1016/j.parkreldis.2017.01.005 DO - 10.1016/j.parkreldis.2017.01.005 ID - Michelis2017 ER - TY - JOUR AU - Tian, J. Y. AU - Tang, B. S. AU - Shi, C. H. AU - Lv, Z. Y. AU - Li, K. AU - Yu, R. L. PY - 2012 DA - 2012// TI - Analysis of PLA2G6 gene mutation in sporadic early-onset parkinsonism patients from Chinese population JO - Neurosci Lett VL - 514 UR - https://doi.org/10.1016/j.neulet.2012.02.078 DO - 10.1016/j.neulet.2012.02.078 ID - Tian2012 ER - TY - JOUR AU - Yamashita, C. AU - Funayama, M. AU - Li, Y. AU - Yoshino, H. AU - Yamada, H. AU - Seino, Y. PY - 2017 DA - 2017// TI - Mutation screening of PLA2G6 in Japanese patients with early onset dystonia-parkinsonism JO - J Neural Transm (Vienna) VL - 124 UR - https://doi.org/10.1007/s00702-016-1658-7 DO - 10.1007/s00702-016-1658-7 ID - Yamashita2017 ER - TY - JOUR AU - Engel, L. A. AU - Jing, Z. AU - O'Brien, D. E. AU - Sun, M. AU - Kotzbauer, P. T. PY - 2010 DA - 2010// TI - Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism JO - PLoS One VL - 5 UR - https://doi.org/10.1371/journal.pone.0012897 DO - 10.1371/journal.pone.0012897 ID - Engel2010 ER - TY - JOUR AU - Gui, Y. X. AU - Xu, Z. P. AU - Wen, L. AU - Liu, H. M. AU - Zhao, J. J. AU - Hu, X. Y. PY - 2013 DA - 2013// TI - Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease JO - Parkinsonism Relat Disord VL - 19 UR - https://doi.org/10.1016/j.parkreldis.2012.07.016 DO - 10.1016/j.parkreldis.2012.07.016 ID - Gui2013 ER -