SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

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

(2013) R. R. Lemos et al.   EUROPEAN JOURNAL OF NEUROLOGY

Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification

(2013) Wan-Jin Chen et al.   GENE

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

(2013) Annika Keller et al.   NATURE GENETICS

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

(2013) Sandy Chan Hsu et al.   NEUROGENETICS

Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification

(2013) Yang Zhang et al.   PLoS One

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

(2012) Cheng Wang et al.   NATURE GENETICS

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

(2012) G. Nicolas et al.   NEUROLOGY

DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene

(2011) Arnaud Blanchard et al.   HUMAN MUTATION

Overview of primary monogenic dystonia

(2011) Marianna Spatola et al.   PARKINSONISM & RELATED DISORDERS

Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification

(2010) Xiaohua Dai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

(2010) Paul N. Valdmanis et al.   BRAIN

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

(2010) Patricia De Carvalho Aguiar et al.   MOVEMENT DISORDERS

The monogenic primary dystonias

(2009) U. Muller   BRAIN

2q37 as a Susceptibility Locus for Idiopathic Basal Ganglia Calcification (IBGC) in a Large South Tyrolean Family

(2009) Claudia Béu Volpato et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Familial idiopathic basal ganglia calcification: a challenging clinical–pathological correlation

(2009) Christian Wider et al.   JOURNAL OF NEUROLOGY

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

(2009) Tania Fuchs et al.   NATURE GENETICS

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE