Literature DB >> 19252803

Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation.

Christian Wider, Dennis W Dickson, Katherine J Schweitzer, Daniel F Broderick, Zbigniew K Wszolek.   

Abstract

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Year:  2009        PMID： 19252803      PMCID： PMC2875477          DOI： 10.1007/s00415-009-5025-6

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


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  7 in total

1.  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

Review 2.  Heredofamilial brain calcinosis syndrome.

Authors:  Yasuhiko Baba; Daniel F Broderick; Ryan J Uitti; Michael L Hutton; Zbigniew K Wszolek
Journal:  Mayo Clin Proc       Date:  2005-05       Impact factor: 7.616

3.  Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).

Authors:  D H Geschwind; M Loginov; J M Stern
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

4.  Severe vascular disturbance in a case of familial brain calcinosis.

Authors:  Judit Miklossy; Ian R Mackenzie; Katerina Dorovini-Zis; Donald B Calne; Zbigniew K Wszolek; Andis Klegeris; Patrick L McGeer
Journal:  Acta Neuropathol       Date:  2005-06-04       Impact factor: 17.088

5.  Autosomal dominant dystonia-plus with cerebral calcifications.

Authors:  Z K Wszolek; Y Baba; I R Mackenzie; R J Uitti; A J Strongosky; D F Broderick; M C Baker; S Melquist; M L Hutton; Y Tsuboi; J E Allanson; J Carr; A Kumar; S M Calne; J Miklossy; P L McGeer; D B Calne; A J Stoessl
Journal:  Neurology       Date:  2006-08-22       Impact factor: 9.910

6.  Parkinsonism associated with autosomal dominant bilateral striopallidodentate calcinosis.

Authors:  B V. Manyam; A S. Walters; I A. Keller; M Ghobrial
Journal:  Parkinsonism Relat Disord       Date:  2001-10       Impact factor: 4.891

7.  Corticobasal degeneration syndrome with basal ganglia calcification: Fahr's disease as a corticobasal look-alike?

Authors:  Jason D Warren; Catherine J Mummery; Amir S Al-Din; Peter Brown; Nicholas W Wood
Journal:  Mov Disord       Date:  2002-05       Impact factor: 10.338
  7 in total
  15 in total

1.  Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1.

Authors:  Weiyi Mu; Laura Tochen; Caroline Bertsch; Harvey S Singer; Kristin W Barañano
Journal:  BMJ Case Rep       Date:  2019-05-27

2.  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

3.  Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families.

Authors:  Chong Wang; Xiang-Ping Yao; Hai-Ting Chen; Jing-Hui Lai; Xin-Xin Guo; Hui-Zhen Su; En-Lin Dong; Qi-Jie Zhang; Ning Wang; Wan-Jin Chen
Journal:  J Hum Genet       Date:  2017-03-16       Impact factor: 3.172

4.  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

5.  Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia.

Authors:  Shinsuke Fujioka; Audrey J Strongosky; Anhar Hassan; Rosa Rademakers; Dennis W Dickson; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2015-01-08       Impact factor: 4.891

6.  Sodium-dependent phosphate cotransporters and phosphate-induced calcification of vascular smooth muscle cells: redundant roles for PiT-1 and PiT-2.

Authors:  Matthew H Crouthamel; Wei Ling Lau; Elizabeth M Leaf; Nicholas W Chavkin; Mary C Wallingford; Danielle F Peterson; Xianwu Li; Yonggang Liu; Michael T Chin; Moshe Levi; Cecilia M Giachelli
Journal:  Arterioscler Thromb Vasc Biol       Date:  2013-08-22       Impact factor: 8.311

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.  Clinicopathological co-occurrence of Fahr's disease and dementia with Lewy bodies.

Authors:  Melanie P Jensen; Olivera Spasic-Boskovic; James B Rowe; Clare Galton; Kieren S J Allinson
Journal:  Clin Neuropathol       Date:  2020 Sep/Oct       Impact factor: 1.368

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

10.  Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.

Authors:  Michael Vanlandewijck; Thibaud Lebouvier; Maarja Andaloussi Mäe; Khayrun Nahar; Simone Hornemann; David Kenkel; Sara I Cunha; Johan Lennartsson; Andreas Boss; Carl-Henrik Heldin; Annika Keller; Christer Betsholtz
Journal:  PLoS One       Date:  2015-11-23       Impact factor: 3.240
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