Literature DB >> 31884352

A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration.

Stephanie Efthymiou1, Yamna Kriouile2, Vincenzo Salpietro3, Rhouda Hajar2, Zouiri Ghizlane2, Kshitij Mankad4, Mohamed El Khorassani2, Mhammed Aguennouz5, Henry Houlden3, Sarah Wiethoff6.   

Abstract

Entities:  

Keywords:  Brain iron accumulation; NBIA; Neurodegeneration; North Africa; PANK2

Mesh：

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Year:  2019        PMID： 31884352     DOI： 10.1016/j.jns.2019.116639

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  2 in total

1.  Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype-Phenotype Correlation.

Authors:  Wen-Bin Li; Nan-Xiang Shen; Chao Zhang; Huan-Cheng Xie; Zong-Yan Li; Li Cao; Li-Zhi Chen; Yuan-Jin Zeng; Cui-Xia Fan; Qian Chen; Yi-Wu Shi; Xing-Wang Song
Journal:  Front Aging Neurosci       Date:  2022-04-06       Impact factor: 5.750

2.  Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration.

Authors:  S Choayb; H Adil; Daoud Ali Mohamed; N Allali; L Chat; S El Haddad
Journal:  Case Rep Radiol       Date:  2021-05-07
  2 in total

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