Literature DB >> 24323245

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

Kensaku Kasuga1, Takuya Konno, Kento Saito, Ayako Ishihara, Masatoyo Nishizawa, Takeshi Ikeuchi.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 24323245     DOI： 10.1007/s00415-013-7205-7

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


× No keyword cloud information.
  10 in total

Review 1.  Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry.

Authors:  B V Manyam; A S Walters; K R Narla
Journal:  Mov Disord       Date:  2001-03       Impact factor: 10.338

Review 2.  What is and what is not 'Fahr's disease'.

Authors:  Bala V Manyam
Journal:  Parkinsonism Relat Disord       Date:  2005-03       Impact factor: 4.891

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.  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

5.  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

6.  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

7.  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

8.  Analysis of gene expression pattern and neuroanatomical correlates for SLC20A2 (PiT-2) shows a molecular network with potential impact in idiopathic basal ganglia calcification ("Fahr's disease").

Authors:  R J Galdino da Silva; I C L Pereira; J R M Oliveira
Journal:  J Mol Neurosci       Date:  2013-04-11       Impact factor: 3.444

9.  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

10.  Mapping of the minimal inorganic phosphate transporting unit of human PiT2 suggests a structure universal to PiT-related proteins from all kingdoms of life.

Authors:  Pernille Bøttger; Lene Pedersen
Journal:  BMC Biochem       Date:  2011-05-17       Impact factor: 4.059
  10 in total
  9 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

Review 3.  Brain Calcification and Movement Disorders.

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

4.  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

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

Review 6.  Nosology and Phenomenology of Psychosis in Movement Disorders.

Authors:  Malco Rossi; Nicole Farcy; Sergio E Starkstein; Marcelo Merello
Journal:  Mov Disord Clin Pract       Date:  2020-01-07

7.  A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients.

Authors:  Yan Ding; Hui-Qing Dong
Journal:  Chin Med J (Engl)       Date:  2018-04-05       Impact factor: 2.628

8.  Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response.

Authors:  Yvette Zarb; Ulrike Weber-Stadlbauer; Daniel Kirschenbaum; Diana Rita Kindler; Juliet Richetto; Daniel Keller; Rosa Rademakers; Dennis W Dickson; Andreas Pasch; Tatiana Byzova; Khayrun Nahar; Fabian F Voigt; Fritjof Helmchen; Andreas Boss; Adriano Aguzzi; Jan Klohs; Annika Keller
Journal:  Brain       Date:  2019-04-01       Impact factor: 13.501

9.  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
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.