Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Dystonia and PANK2[original query] |
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Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions. PloS one 2015 10 (6): e0129656. Golanska Ewa, Gajos Agata, Sieruta Monika, Szybka Malgorzata, Rudzinska Monika, Ochudlo Stanislaw, Kmiec Tomasz, Liberski Pawel P, Bogucki Andrz |
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2017 9 55 (9): 678-682. Zhou J, He J, Kou L P, Feng H C, Deng Y H, Zhang Z B, Zhou L, Wang J M, Jiang Y W, Wu |
Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019 5 66 187-190. Sakpichaisakul Kullasate, Saengow Vitchayaporn E, Suwanpratheep Papit, Rongnoparat Kanokpan, Panthan Bhakbhoom, Trachoo Objo |
Natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration. CNS neuroscience & therapeutics 2020 2 26 (7): 754-761. Chang Xuting, Zhang Jie, Jiang Yuwu, Wang Jingmin, Wu |
Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India. Parkinsonism & related disorders 2024 1 120 105986. Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Ravi Yadav, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar P |
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