Literature DB >> 24689511

Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration.

L-Y Ma1, L Wang, Y-M Yang, Y Lu, F-B Cheng, X-H Wan.   

Abstract

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Year:  2014        PMID: 24689511     DOI: 10.1111/cge.12341

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  2 in total

1.  Novel homozygous PANK2 mutation identified in a consanguineous Chinese pedigree with pantothenate kinase-associated neurodegeneration.

Authors:  Yan-Fang Li; Hong-Fu Li; Yan-Bin Zhang; Ji-Min Wu
Journal:  Biomed Rep       Date:  2016-07-05

2.  Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.

Authors:  Jae-Hyeok Lee; Jongkyu Park; Ho-Sung Ryu; Hyeyoung Park; Young Eun Kim; Jin Yong Hong; Sang Ook Nam; Young-Hee Sung; Seung-Hwan Lee; Jee-Young Lee; Myung Jun Lee; Tae-Hyoung Kim; Chul Hyoung Lyoo; Sun Ju Chung; Seong Beom Koh; Phil Hyu Lee; Jin Whan Cho; Mee Young Park; Yun Joong Kim; Young H Sohn; Beom Seok Jeon; Myung Sik Lee
Journal:  J Mov Disord       Date:  2016-01-25
  2 in total

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