Literature DB >> 30713885

Adult-Onset Focal Chorea in Fahr's Disease Resulting From SLC20A2 Mutation: A Novel Phenotype.

Miryam Carecchio1,2, Chiara Barzaghi2, Claudia Varrasi1, Roberto Cantello1, Barbara Garavaglia2.   

Abstract

Entities:  

Keywords:  Fahr's disease; SLC20A2; chorea; movement disorders

Year:  2014        PMID： 30713885      PMCID： PMC6353343          DOI： 10.1002/mdc3.12114

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


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  9 in total

1.  Familial IBGC caused by SLC20A2 mutation presenting as paroxysmal kinesigenic dyskinesia.

Authors:  Min Zhu; Xuan Zhu; Hui Wan; Daojun Hong
Journal:  Parkinsonism Relat Disord       Date:  2013-12-28       Impact factor: 4.891

2.  A case of paroxysmal kinesigenic dyskinesia in idiopathic bilateral striopallidodentate calcinosis.

Authors:  Eun Joo Chung; Gu-no Cho; Sang Jin Kim
Journal:  Seizure       Date:  2012-10-09       Impact factor: 3.184

3.  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

4.  Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.

Authors:  Gaël Nicolas; Cyril Pottier; David Maltête; Sophie Coutant; Anne Rovelet-Lecrux; Solenn Legallic; Stéphane Rousseau; Yvan Vaschalde; Lucie Guyant-Maréchal; Jérôme Augustin; Olivier Martinaud; Luc Defebvre; Pierre Krystkowiak; Jérémie Pariente; Michel Clanet; Pierre Labauge; Xavier Ayrignac; Romain Lefaucheur; Isabelle Le Ber; Thierry Frébourg; Didier Hannequin; Dominique Campion
Journal:  Neurology       Date:  2012-12-19       Impact factor: 9.910

5.  Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

Authors:  Sandy Chan Hsu; Renee L Sears; Roberta R Lemos; Beatriz Quintáns; Alden Huang; Elizabeth Spiteri; Lisette Nevarez; Catherine Mamah; Mayana Zatz; Kerrie D Pierce; Janice M Fullerton; John C Adair; Jon E Berner; Matthew Bower; Henry Brodaty; Olga Carmona; Valerija Dobricić; Brent L Fogel; Daniel García-Estevez; Jill Goldman; John L Goudreau; Suellen Hopfer; Milena Janković; Serge Jaumà; Joanna C Jen; Suppachok Kirdlarp; Joerg Klepper; Vladimir Kostić; Anthony E Lang; Agnès Linglart; Melissa K Maisenbacher; Bala V Manyam; Pietro Mazzoni; Zofia Miedzybrodzka; Witoon Mitarnun; Philip B Mitchell; Jennifer Mueller; Ivana Novaković; Martin Paucar; Henry Paulson; Sheila A Simpson; Per Svenningsson; Paul Tuite; Jerrold Vitek; Suppachok Wetchaphanphesat; Charles Williams; Michele Yang; Peter R Schofield; João R M de Oliveira; María-Jesús Sobrido; Daniel H Geschwind; Giovanni Coppola
Journal:  Neurogenetics       Date:  2013-01-20       Impact factor: 2.660

6.  Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

Authors:  Annika Keller; Ana Westenberger; Maria J Sobrido; Maria García-Murias; Aloysius Domingo; Renee L Sears; Roberta R Lemos; Andres Ordoñez-Ugalde; Gael Nicolas; José E Gomes da Cunha; Elisabeth J Rushing; Michael Hugelshofer; Moritz C Wurnig; Andres Kaech; Regina Reimann; Katja Lohmann; Valerija Dobričić; Angel Carracedo; Igor Petrović; Janis M Miyasaki; Irina Abakumova; Maarja Andaloussi Mäe; Elisabeth Raschperger; Mayana Zatz; Katja Zschiedrich; Jörg Klepper; Elizabeth Spiteri; Jose M Prieto; Inmaculada Navas; Michael Preuss; Carmen Dering; Milena Janković; Martin Paucar; Per Svenningsson; Kioomars Saliminejad; Hamid R K Khorshid; Ivana Novaković; Adriano Aguzzi; Andreas Boss; Isabelle Le Ber; Gilles Defer; Didier Hannequin; Vladimir S Kostić; Dominique Campion; Daniel H Geschwind; Giovanni Coppola; Christer Betsholtz; Christine Klein; Joao R M Oliveira
Journal:  Nat Genet       Date:  2013-08-04       Impact factor: 38.330

7.  Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

Authors:  Gaël Nicolas; Cyril Pottier; Camille Charbonnier; Lucie Guyant-Maréchal; Isabelle Le Ber; Jérémie Pariente; Pierre Labauge; Xavier Ayrignac; Luc Defebvre; David Maltête; Olivier Martinaud; Romain Lefaucheur; Olivier Guillin; David Wallon; Boris Chaumette; Philippe Rondepierre; Nathalie Derache; Guillaume Fromager; Stéphane Schaeffer; Pierre Krystkowiak; Christophe Verny; Snejana Jurici; Mathilde Sauvée; Marc Vérin; Thibaud Lebouvier; Olivier Rouaud; Christel Thauvin-Robinet; Stéphane Rousseau; Anne Rovelet-Lecrux; Thierry Frebourg; Dominique Campion; Didier Hannequin
Journal:  Brain       Date:  2013-09-24       Impact factor: 13.501

8.  Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.

Authors:  Wan-Jin Chen; Xiang-Ping Yao; Qi-Jie Zhang; Wang Ni; Jin He; Hong-Fu Li; Xin-Yi Liu; Gui-Xian Zhao; Shen-Xing Murong; Ning Wang; Zhi-Ying Wu
Journal:  Gene       Date:  2013-08-11       Impact factor: 3.688

9.  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
  9 in total

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