Literature DB >> 25609077

Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia.

Shinsuke Fujioka1, Audrey J Strongosky2, Anhar Hassan3, Rosa Rademakers4, Dennis W Dickson4, Zbigniew K Wszolek5.   

Abstract

Entities:  

Keywords:  Basal ganglia calcification; Genetic testing; IBGC3; Oromandibular dystonia; SLC20A2; THAP1

Mesh：

Substances：

Year:  2015        PMID： 25609077      PMCID： PMC4408548          DOI： 10.1016/j.parkreldis.2014.12.024

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


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  6 in total

Review 1.  Dystonia: phenomenology.

Authors:  Mark S LeDoux
Journal:  Parkinsonism Relat Disord       Date:  2012-01       Impact factor: 4.891

2.  Autosomal dominant dystonia-plus with cerebral calcifications.

Authors:  Z K Wszolek; Y Baba; I R Mackenzie; R J Uitti; A J Strongosky; D F Broderick; M C Baker; S Melquist; M L Hutton; Y Tsuboi; J E Allanson; J Carr; A Kumar; S M Calne; J Miklossy; P L McGeer; D B Calne; A J Stoessl
Journal:  Neurology       Date:  2006-08-22       Impact factor: 9.910

Review 3.  Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients.

Authors:  Sara Bonazza; Chiara La Morgia; Paolo Martinelli; Sabina Capellari
Journal:  Neurol Sci       Date:  2011-04-09       Impact factor: 3.307

4.  Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

Authors:  Cheng Wang; Yulei Li; Lei Shi; Jie Ren; Monica Patti; Tao Wang; João R M de Oliveira; María-Jesús Sobrido; Beatriz Quintáns; Miguel Baquero; Xiaoniu Cui; Xiang-Yang Zhang; Lianqing Wang; Haibo Xu; Junhan Wang; Jing Yao; Xiaohua Dai; Juan Liu; Lu Zhang; Hongying Ma; Yong Gao; Xixiang Ma; Shenglei Feng; Mugen Liu; Qing K Wang; Ian C Forster; Xue Zhang; Jing-Yu Liu
Journal:  Nat Genet       Date:  2012-02-12       Impact factor: 38.330

5.  SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.

Authors:  Matt Baker; Audrey J Strongosky; Monica Y Sanchez-Contreras; Shan Yang; Will Ferguson; Donald B Calne; Susan Calne; A Jon Stoessl; Judith E Allanson; Daniel F Broderick; Michael L Hutton; Dennis W Dickson; Owen A Ross; Zbigniew K Wszolek; Rosa Rademakers
Journal:  Neurogenetics       Date:  2013-10-18       Impact factor: 2.660

6.  Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation.

Authors:  Christian Wider; Dennis W Dickson; Katherine J Schweitzer; Daniel F Broderick; Zbigniew K Wszolek
Journal:  J Neurol       Date:  2009-03-01       Impact factor: 4.849
  6 in total
  1 in total

1.  Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl.

Authors:  Hao Sun; Zhijian Cao; Ruixi Gao; Yulei Li; Rui Chen; Shiyue Du; Tingbin Ma; Junhan Wang; Xuan Xu; Jing Yu Liu
Journal:  Mol Genet Genomic Med       Date:  2021-04-01       Impact factor: 2.183
  1 in total

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