Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review
Published 2021 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic
MDSGene
Review
Authors
Keywords
-
Journal
MOVEMENT DISORDERS
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2021-08-25
DOI
10.1002/mds.28753
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review
- (2021) Lara M. Lange et al. MOVEMENT DISORDERS
- MYORG mutation heterozygosity is associated with brain calcification
- (2020) You Chen et al. MOVEMENT DISORDERS
- Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
- (2020) Lucia V. Schottlaender et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Don't do harm by diagnosis - An abnormal cranial CT: Still fa(h)r from a disease
- (2020) Alexander Balck et al. PARKINSONISM & RELATED DISORDERS
- Expanding Data Collection for the MDSGene Database: X‐Linked Dystonia‐Parkinsonism as Use Case Example
- (2020) Martje G. Pauly et al. MOVEMENT DISORDERS
- Identification of SLC20A2 deletions in patients with primary familial brain calcification
- (2019) Xin‐Xin Guo et al. CLINICAL GENETICS
- A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature
- (2019) Stine Westergaard Mathorne et al. BMC Neurology
- Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification
- (2019) Zhidong Cen et al. BRAIN
- Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses
- (2019) Fei-Xia Zhan et al. NEUROSCIENCE LETTERS
- Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin , PINK1 , DJ1: MDSGene Systematic Review
- (2018) Meike Kasten et al. MOVEMENT DISORDERS
- Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification
- (2018) Xiang-Ping Yao et al. NEURON
- Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review
- (2018) Joanne Trinh et al. MOVEMENT DISORDERS
- MYORG is associated with recessive primary familial brain calcification
- (2018) David Arkadir et al. Annals of Clinical and Translational Neurology
- Mutation screening of PDGFB gene in Chinese population with primary familial brain calcification
- (2017) Xiang-Ping Yao et al. GENE
- Primary familial brain calcification in the ‘IBGC2’ kindred: All linkage roads lead toSLC20A2
- (2016) Karen Grütz et al. MOVEMENT DISORDERS
- Launching the movement disorders society genetic mutation database (MDSGene)
- (2016) Christina M. Lill et al. MOVEMENT DISORDERS
- Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
- (2015) Andrea Legati et al. NATURE GENETICS
- Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB
- (2015) M. J. Keogh et al. NEUROLOGY
- Primary Familial Brain Calcification With Known Gene Mutations
- (2015) Vera Tadic et al. JAMA Neurology
- The Genetics of Primary Familial Brain Calcifications
- (2014) Ana Westenberger et al. Current Neurology and Neuroscience Reports
- 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
- High frequency of calcification in basal ganglia on brain computed tomography images in Japanese older adults
- (2012) Megumi Yamada et al. Geriatrics & Gerontology International
- 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
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started