Literature DB >> 25178512

Novel mutation of SLC20A2 in an Italian patient presenting with migraine.

Elisa Rubino1, Elisa Giorgio, Salvatore Gallone, Lorenzo Pinessi, Laura Orsi, Salvatore Gentile, Sergio Duca, Alfredo Brusco.   

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Year:  2014        PMID： 25178512     DOI： 10.1007/s00415-014-7475-8

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  15 in total

1.  A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion.

Authors:  Kensaku Kasuga; Takuya Konno; Kento Saito; Ayako Ishihara; Masatoyo Nishizawa; Takeshi Ikeuchi
Journal:  J Neurol       Date:  2013-12-10       Impact factor: 4.849

2.  Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).

Authors:  J R M Oliveira; E Spiteri; M J Sobrido; S Hopfer; J Klepper; T Voit; J Gilbert; Z K Wszolek; D B Calne; A J Stoessl; M Hutton; B V Manyam; F Boller; M Baquero; D H Geschwind
Journal:  Neurology       Date:  2004-12-14       Impact factor: 9.910

3.  Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification.

Authors:  R R Lemos; M F Oliveira; J R M Oliveira
Journal:  Eur J Neurol       Date:  2013-03       Impact factor: 6.089

4.  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

5.  Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification.

Authors:  Gaël Nicolas; Anne-Claire Richard; Cyril Pottier; Christophe Verny; Franck Durif; Emmanuel Roze; Pascal Favrole; Gabrielle Rudolf; Mathieu Anheim; Christine Tranchant; Thierry Frebourg; Dominique Campion; Didier Hannequin
Journal:  Neurogenetics       Date:  2014-04-27       Impact factor: 2.660

6.  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

7.  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

8.  A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.

Authors:  Gaël Nicolas; Agnès Jacquin; Christel Thauvin-Robinet; Anne Rovelet-Lecrux; Olivier Rouaud; Cyril Pottier; Marie-Hélène Aubriot-Lorton; Stéphane Rousseau; David Wallon; Christian Duvillard; Yannick Béjot; Thierry Frébourg; Maurice Giroud; Dominique Campion; Didier Hannequin
Journal:  Eur J Hum Genet       Date:  2014-02-12       Impact factor: 4.246

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

10.  Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.

Authors:  Yang Zhang; Xianan Guo; Anhua Wu
Journal:  PLoS One       Date:  2013-02-20       Impact factor: 3.240
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  3 in total

1.  Primary familial brain calcification: update on molecular genetics.

Authors:  Ilaria Taglia; Vincenzo Bonifati; Andrea Mignarri; Maria Teresa Dotti; Antonio Federico
Journal:  Neurol Sci       Date:  2015-02-17       Impact factor: 3.307

2.  PiT2 regulates neuronal outgrowth through interaction with microtubule-associated protein 1B.

Authors:  Xi-Xiang Ma; Xiangyang Li; Ping Yi; Cheng Wang; Jun Weng; Li Zhang; Xuan Xu; Hao Sun; Shenglei Feng; Kai Liu; Rui Chen; Shiyue Du; Xiao Mao; Xiaomei Zeng; Luo-Ying Zhang; Mugen Liu; Bei-Sha Tang; Xiaojuan Zhu; Shan Jin; Jing-Yu Liu
Journal:  Sci Rep       Date:  2017-12-19       Impact factor: 4.379

3.  Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid.

Authors:  Nina Jensen; Jacob Kwasi Autzen; Lene Pedersen
Journal:  Neurogenetics       Date:  2015-12-12       Impact factor: 2.660
  3 in total

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