Literature DB >> 23406454

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

R R Lemos1, M F Oliveira2, J R M Oliveira1,3.   

Abstract

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Year:  2013        PMID： 23406454     DOI： 10.1111/ene.12044

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  16 in total

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

Authors:  Elisa Rubino; Elisa Giorgio; Salvatore Gallone; Lorenzo Pinessi; Laura Orsi; Salvatore Gentile; Sergio Duca; Alfredo Brusco
Journal:  J Neurol       Date:  2014-09-02       Impact factor: 4.849

2.  Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology.

Authors:  Monica Sanchez-Contreras; Matthew C Baker; NiCole A Finch; Alexandra Nicholson; Aleksandra Wojtas; Zbigniew K Wszolek; Owen A Ross; Dennis W Dickson; Rosa Rademakers
Journal:  Hum Mutat       Date:  2014-06-03       Impact factor: 4.878

3.  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

4.  Phosphate Transporters Expression in Patients with Primary Familial Brain Calcifications.

Authors:  L F Pimentel; R R Lemos; J R Oliveira
Journal:  J Mol Neurosci       Date:  2017-06-03       Impact factor: 3.444

Review 5.  The genetics of primary familial brain calcifications.

Authors:  Ana Westenberger; Christine Klein
Journal:  Curr Neurol Neurosci Rep       Date:  2014-10       Impact factor: 5.081

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.  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

8.  SLC20A2 Deficiency in Mice Leads to Elevated Phosphate Levels in Cerbrospinal Fluid and Glymphatic Pathway-Associated Arteriolar Calcification, and Recapitulates Human Idiopathic Basal Ganglia Calcification.

Authors:  Mary Catherine Wallingford; Jia Jun Chia; Elizabeth M Leaf; Suhaib Borgeia; Nicholas W Chavkin; Chenphop Sawangmake; Ken Marro; Timothy C Cox; Mei Y Speer; Cecilia M Giachelli
Journal:  Brain Pathol       Date:  2016-05-06       Impact factor: 7.611

9.  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

10.  Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice.

Authors:  Nina Jensen; Henrik Daa Schrøder; Eva Kildall Hejbøl; Ernst-Martin Füchtbauer; João Ricardo Mendes de Oliveira; Lene Pedersen
Journal:  J Mol Neurosci       Date:  2013-08-10       Impact factor: 3.444
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