Literature DB >> 30713883

Rapid-Onset Dystonia-Parkinsonism in a Chinese Girl with a De Novo ATP1A3 c.2267G>A (p.R756H) Genetic Mutation.

Ai Huey Tan1, Laurie J Ozelius2, Allison Brashear3, Anthony E Lang4, Azlina Ahmad-Annuar1, Chong Tin Tan1, Shen-Yang Lim1.   

Abstract

Entities:  

Keywords:  ATP1A3; Asian; Chinese; rapid‐onset dystonia‐parkinsonism

Year:  2014        PMID： 30713883      PMCID： PMC6353356          DOI： 10.1002/mdc3.12122

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  6 in total

1.  Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.

Authors:  I A Anselm; K J Sweadner; S Gollamudi; L J Ozelius; B T Darras
Journal:  Neurology       Date:  2009-08-04       Impact factor: 9.910

2.  The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.

Authors:  Allison Brashear; William B Dobyns; Patricia de Carvalho Aguiar; Michel Borg; C J M Frijns; Seema Gollamudi; Andrew Green; João Guimaraes; Bret C Haake; Christine Klein; Gurutz Linazasoro; Alexander Münchau; Deborah Raymond; David Riley; Rachel Saunders-Pullman; Marina A J Tijssen; David Webb; Jacek Zaremba; Susan B Bressman; Laurie J Ozelius
Journal:  Brain       Date:  2007-02-04       Impact factor: 13.501

3.  ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.

Authors:  Jee-Young Lee; Seema Gollamudi; Laurie J Ozelius; Ji-Young Kim; Beom S Jeon
Journal:  Mov Disord       Date:  2007-09-15       Impact factor: 10.338

Review 4.  ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

Authors:  Allison Brashear; Jonathan W Mink; Deborah F Hill; Niki Boggs; W Vaughn McCall; Mark A Stacy; Beverly Snively; Laney S Light; Kathleen J Sweadner; Laurie J Ozelius; Leslie Morrison
Journal:  Dev Med Child Neurol       Date:  2012-08-28       Impact factor: 5.449

Review 5.  Distinct neurological disorders with ATP1A3 mutations.

Authors:  Erin L Heinzen; Alexis Arzimanoglou; Allison Brashear; Steven J Clapcote; Fiorella Gurrieri; David B Goldstein; Sigurður H Jóhannesson; Mohamad A Mikati; Brian Neville; Sophie Nicole; Laurie J Ozelius; Hanne Poulsen; Tsveta Schyns; Kathleen J Sweadner; Arn van den Maagdenberg; Bente Vilsen
Journal:  Lancet Neurol       Date:  2014-05       Impact factor: 44.182

6.  ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.

Authors:  Xiaoling Yang; Hua Gao; Jie Zhang; Xiaojing Xu; Xiaoyan Liu; Xiru Wu; Liping Wei; Yuehua Zhang
Journal:  PLoS One       Date:  2014-05-19       Impact factor: 3.240
  6 in total
  3 in total

1.  Chinese patients with p.Arg756 mutations of ATP1A3: Clinical manifestations, treatment, and follow-up.

Authors:  Weihua Zhang; Jiuwei Li; Xiuwei Zhuo; Ji Zhou; Weixing Feng; Shuai Gong; Xiaotun Ren; Changhong Ding; Tongli Han; Fang Fang
Journal:  Pediatr Investig       Date:  2022-02-25

2.  ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis.

Authors:  Lihua Yu; Guoping Peng; Yuan Yuan; Min Tang; Ping Liu; Xiaoyan Liu; Jie Ni; Yi Li; Caihong Ji; Ziqi Fan; Wenli Zhu; Benyan Luo; Qing Ke
Journal:  Front Aging Neurosci       Date:  2022-08-01       Impact factor: 5.702

Review 3.  Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.

Authors:  Mateusz Biela; Malgorzata Rydzanicz; Krystyna Szymanska; Karolina Pieniawska-Smiech; Aleksandra Lewandowicz-Uszynska; Joanna Chruszcz; Lucyna Benben; Malgorzata Kuzior-Plawiak; Pawel Szyld; Aleksandra Jakubiak; Leszek Szenborn; Rafal Ploski; Robert Smigiel
Journal:  Mol Genet Genomic Med       Date:  2021-08-02       Impact factor: 2.183
  3 in total

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