Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family

Primary brain calcification: an international study reporting novel variants and associated phenotypes

(2018) Eliana Marisa Ramos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

(2018) Xiang-Ping Yao et al.   NEURON

A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification

(2018) Yalda Forouhideh et al.   BRAIN

A novel mutation in MYORG causes primary familial brain calcification with central neuropathic pain

(2018) Y. Peng et al.   CLINICAL GENETICS

Evaluation of MYORG mutations as a novel cause of primary familial brain calcification

(2018) You Chen et al.   MOVEMENT DISORDERS

MYORG is associated with recessive primary familial brain calcification

(2018) David Arkadir et al.   Annals of Clinical and Translational Neurology

Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes

(2017) Amit Batla et al.   PARKINSONISM & RELATED DISORDERS

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

(2016) Stéphanie David et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2015) Andrea Legati et al.   NATURE GENETICS

Primary Familial Brain Calcification With Known Gene Mutations

(2015) Vera Tadic et al.   JAMA Neurology

PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy

(2014) Gaël Nicolas et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

(2013) Gaël Nicolas et al.   BRAIN

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

(2013) Annika Keller et al.   NATURE GENETICS

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

(2013) Matt Baker et al.   NEUROGENETICS

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

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH