Literature DB >> 23036512

THAP1 mutations in a Greek primary blepharospasm series.

Georgia Xiromerisiou, Efthimios Dardiotis, Evangelia E Tsironi, Georgios Hadjigeorgiou, Styliani Ralli, Eleanna Kara, Antonios Petalas, Sophia Tachmitzi, John Hardy, Henry Houlden.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 23036512     DOI： 10.1016/j.parkreldis.2012.08.015

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


× No keyword cloud information.
  9 in total

1.  BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm.

Authors:  Vasileios Siokas; Dimitrios Kardaras; Athina-Maria Aloizou; Ioannis Asproudis; Konstadinos G Boboridis; Eleni Papageorgiou; Georgios M Hadjigeorgiou; Evangelia E Tsironi; Efthimios Dardiotis
Journal:  Neuromolecular Med       Date:  2018-12-05       Impact factor: 3.843

Review 2.  Inherited isolated dystonia: clinical genetics and gene function.

Authors:  William Dauer
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

3.  Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.

Authors:  Rachel Saunders-Pullman; Tania Fuchs; Marta San Luciano; Deborah Raymond; Alison Brashear; Robert Ortega; Andres Deik; Laurie J Ozelius; Susan B Bressman
Journal:  Mov Disord       Date:  2014-02-05       Impact factor: 10.338

4.  Blepharospasm: A genetic screening study in 132 patients.

Authors:  Monia Hammer; Alexandra Abravanel; Elizabeth Peckham; Ava Mahloogi; Elisa Majounie; Mark Hallett; Andrew Singleton
Journal:  Parkinsonism Relat Disord       Date:  2019-04-02       Impact factor: 4.891

5.  Blepharospasm in a multiplex African-American pedigree.

Authors:  Jianfeng Xiao; Misty M Thompson; Satya R Vemula; Mark S LeDoux
Journal:  J Neurol Sci       Date:  2016-02-02       Impact factor: 3.181

Review 6.  The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis.

Authors:  Vasileios Siokas; Efthimios Dardiotis; Evangelia E Tsironi; Georgios Tsivgoulis; Dimitrios Rikos; Maria Sokratous; Stylianos Koutsias; Konstantinos Paterakis; Georgia Deretzi; Georgios M Hadjigeorgiou
Journal:  PLoS One       Date:  2017-01-12       Impact factor: 3.240

7.  Screening Gene Mutations in Chinese Patients With Benign Essential Blepharospasm.

Authors:  Hongjuan Dong; Ying Luo; Shanghua Fan; Bo Yin; Chao Weng; Bin Peng
Journal:  Front Neurol       Date:  2020-01-23       Impact factor: 4.003

Review 8.  Blepharospasm, Oromandibular Dystonia, and Meige Syndrome: Clinical and Genetic Update.

Authors:  Hongying Ma; Jian Qu; Liangjun Ye; Yi Shu; Qiang Qu
Journal:  Front Neurol       Date:  2021-03-29       Impact factor: 4.003

Review 9.  Risk Factor Genes in Patients with Dystonia: A Comprehensive Review.

Authors:  Vasileios Siokas; Athina-Maria Aloizou; Zisis Tsouris; Amalia Michalopoulou; Alexios-Fotios A Mentis; Efthimios Dardiotis
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2019-01-09
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.