Literature DB >> 35037100

A case of neurodegenerative disorder caused by PLA2G6 compound heterozygous pathogenic variant and SCA17 pathogenic variant.

Xiaoli Hao1, Qijie Yang1, Lu Shen1,2, Juan Du3,4.   

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Year:  2022        PMID： 35037100     DOI： 10.1007/s10072-021-05821-y

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  4 in total

1.  Trinucleotide repeat expansion of TATA-binding protein gene associated with Parkinson's disease: A Thai multicenter study.

Authors:  Lulin Choubtum; Pirada Witoonpanich; Kongkiat Kulkantrakorn; Suchat Hanchaiphiboolkul; Sunsanee Pongpakdee; Somsak Tiamkao; Teeratorn Pulkes
Journal:  Parkinsonism Relat Disord       Date:  2016-05-04       Impact factor: 4.891

Review 2.  New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Authors:  Andreas Puschmann
Journal:  Curr Neurol Neurosci Rep       Date:  2017-09       Impact factor: 5.081

3.  A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing.

Authors:  Chin-Hsien Lin; Pei-Lung Chen; Chun-Hwei Tai; Hang-I Lin; Chih-Shan Chen; Meng-Ling Chen; Ruey-Meei Wu
Journal:  Mov Disord       Date:  2019-02-20       Impact factor: 10.338

4.  Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review.

Authors:  Ting Shen; Jing Hu; Yasi Jiang; Shuai Zhao; Caixiu Lin; Xinzhen Yin; Yaping Yan; Jiali Pu; Hsin-Yi Lai; Baorong Zhang
Journal:  Front Neurol       Date:  2019-08-21       Impact factor: 4.003
  4 in total

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