Literature DB >> 26860091

Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation.

Oddveig Røsby1, Andrea Legati2, Giovanni Coppola2,3.   

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Year:  2016        PMID: 26860091     DOI: 10.1007/s00415-016-8033-3

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


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  7 in total

1.  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

2.  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

3.  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

4.  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

5.  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

6.  Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Authors:  Andrea Legati; Donatella Giovannini; Gaël Nicolas; Uriel López-Sánchez; Beatriz Quintáns; João R M Oliveira; Renee L Sears; Eliana Marisa Ramos; Elizabeth Spiteri; María-Jesús Sobrido; Ángel Carracedo; Cristina Castro-Fernández; Stéphanie Cubizolle; Brent L Fogel; Cyril Goizet; Joanna C Jen; Suppachok Kirdlarp; Anthony E Lang; Zosia Miedzybrodzka; Witoon Mitarnun; Martin Paucar; Henry Paulson; Jérémie Pariente; Anne-Claire Richard; Naomi S Salins; Sheila A Simpson; Pasquale Striano; Per Svenningsson; François Tison; Vivek K Unni; Olivier Vanakker; Marja W Wessels; Suppachok Wetchaphanphesat; Michele Yang; Francois Boller; Dominique Campion; Didier Hannequin; Marc Sitbon; Daniel H Geschwind; Jean-Luc Battini; Giovanni Coppola
Journal:  Nat Genet       Date:  2015-05-04       Impact factor: 38.330

7.  Mutations at the SLC20A2 gene and brain resilience in families with idiopathic basal ganglia calcification ("Fahr's disease").

Authors:  Danyllo F de Oliveira; Roberta R de Lemos; João R M de Oliveira
Journal:  Front Hum Neurosci       Date:  2013-08-05       Impact factor: 3.169

  7 in total
  1 in total

Review 1.  Brain Calcification and Movement Disorders.

Authors:  Vladimir S Kostić; Igor N Petrović
Journal:  Curr Neurol Neurosci Rep       Date:  2017-01       Impact factor: 5.081

  1 in total

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