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6 in total

1. A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.

Authors: Ivan Milenkovic; Alexander Zimprich; Martin Gencik; Kirsten Platho-Elwischger; Stefan Seidel
Journal: J Neural Transm (Vienna) Date: 2018-09-04 Impact factor: 3.575

Review 2. The impact of human hyperekplexia mutations on glycine receptor structure and function.

Authors: Anna Bode; Joseph W Lynch
Journal: Mol Brain Date: 2014-01-09 Impact factor: 4.041

3. Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.

Authors: Chi-Chun Ho; Shuk-Mui Tai; Edmond Chi-Nam Lee; Timothy Shin-Heng Mak; Timothy Kam-Tim Liu; Victor Wai-Lun Tang; Wing-Tat Poon
Journal: Int J Mol Sci Date: 2017-04-05 Impact factor: 5.923

4. Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia.

Authors: Feixia Zhan; Chao Zhang; Shige Wang; Zeyu Zhu; Guang Chen; Mingliang Zhao; Li Cao
Journal: J Clin Neurol Date: 2020-04 Impact factor: 3.077

Review 5. Impaired Glycine Receptor Trafficking in Neurological Diseases.

Authors: Natascha Schaefer; Vera Roemer; Dieter Janzen; Carmen Villmann
Journal: Front Mol Neurosci Date: 2018-08-21 Impact factor: 5.639

6. C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report.

Authors: Yan Zhang; Ling-Ling Wu; Xiao-Lan Zheng; Cai-Mei Lin
Journal: Medicine (Baltimore) Date: 2020-04 Impact factor: 1.817

6 in total