Related references
Note: Only part of the references are listed.Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family
Eliana Marisa Ramos et al.
NEUROGENETICS (2019)
Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype
Lou Grangeon et al.
BRAIN (2019)
Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China
Si Chen et al.
PARKINSONISM & RELATED DISORDERS (2019)
New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy
Laura D. Ferreira et al.
BRAIN (2019)
Primary familial brain calcifications: genetic and clinical update
Ana Westenberger et al.
CURRENT OPINION IN NEUROLOGY (2019)
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification
Yalda Forouhideh et al.
BRAIN (2019)
A novel mutation in MYORG causes primary familial brain calcification with central neuropathic pain
Y. Peng et al.
CLINICAL GENETICS (2019)
Evaluation of MYORG mutations as a novel cause of primary familial brain calcification
You Chen et al.
MOVEMENT DISORDERS (2019)
MYORG is associated with recessive primary familial brain calcification
David Arkadir et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2019)
Mice Knocked Out for the Primary Brain Calcification-Associated Gene Slc20a2 Show Unimpaired Prenatal Survival but Retarded Growth and Nodules in the Brain that Grow and Calcify Over Time
Nina Jensen et al.
AMERICAN JOURNAL OF PATHOLOGY (2018)
Junctional adhesion molecules JAM-B and JAM-C promote autoimmune-mediated liver fibrosis in mice
Edith Hintermann et al.
JOURNAL OF AUTOIMMUNITY (2018)
Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification
Xiang-Ping Yao et al.
NEURON (2018)
A molecular atlas of cell types and zonation in the brain vasculature
Michael Vanlandewijck et al.
NATURE (2018)
Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification
Gael Nicolas et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2018)
Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification
Xiang-Ping Yao et al.
CELL AND TISSUE RESEARCH (2017)
Somatodendritic Expression of JAM2 Inhibits Oligodendrocyte Myelination
Stephanie A. Redmond et al.
NEURON (2016)
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Andrea Legati et al.
NATURE GENETICS (2015)
SpeedSeq: ultra-fast personal genome analysis and interpretation
Colby Chiang et al.
NATURE METHODS (2015)
Fahr's disease in two siblings in a family: A case report
Hong Wang et al.
EXPERIMENTAL AND THERAPEUTIC MEDICINE (2015)
Tight junction dynamics: the role of junctional adhesion molecules (JAMs)
S. Garrido-Urbani et al.
CELL AND TISSUE RESEARCH (2014)
Blood-spinal cord barrier breakdown and pericyte reductions in amyotrophic lateral sclerosis
Ethan A. Winkler et al.
ACTA NEUROPATHOLOGICA (2013)
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification
Gael Nicolas et al.
BRAIN (2013)
Localization of type-III sodium-dependent phosphate transporter 2 in the mouse brain
Masatoshi Inden et al.
BRAIN RESEARCH (2013)
Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts
Nadia A. Akawi et al.
HUMAN MUTATION (2013)
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Annika Keller et al.
NATURE GENETICS (2013)
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification
Gael Nicolas et al.
NEUROLOGY (2013)
Pericyte loss influences Alzheimer-like neurodegeneration in mice
Abhay P. Sagare et al.
NATURE COMMUNICATIONS (2013)
Relationship Between Cyclophilin A Levels and Matrix Metalloproteinase 9 Activity in Cerebrospinal Fluid of Cognitively Normal Apolipoprotein E4 Carriers and Blood-Brain Barrier Breakdown
Matthew R. Halliday et al.
JAMA NEUROLOGY (2013)
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
Daniel C. Koboldt et al.
GENOME RESEARCH (2012)
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
Cheng Wang et al.
NATURE GENETICS (2012)
Pericytes as a new target for pathological processes in CADASIL
Dorota Dziewulska et al.
NEUROPATHOLOGY (2012)
Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria
Mary C. O'Driscoll et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts
Ganeshwaran H. Mochida et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Pericytes regulate the blood-brain barrier
Annika Armulik et al.
NATURE (2010)
Pericytes are required for blood-brain barrier integrity during embryogenesis
Richard Daneman et al.
NATURE (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Endothelial-Mural Cell Signaling in Vascular Development and Angiogenesis
Konstantin Gaengel et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2009)
Junctional adhesion molecules (JAM)-B and -C contribute to leukocyte extravasation to the skin and mediate cutaneous inflammation
RJ Ludwig et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2005)
Vascular endothelial-junctional adhesion molecule (VE-JAM)/JAM 2 interacts with T, NK, and dendritic cells through JAM 3
TW Liang et al.
JOURNAL OF IMMUNOLOGY (2002)
Cloning of human junctional adhesion molecule 3 (JAM3) and its identification as the JAM2 counter-receptor
MP Arrate et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Bilateral striopallidodentate calcinosis: Clinical characteristics of patients seen in a registry
BV Manyam et al.
MOVEMENT DISORDERS (2001)
Vascular endothelial junction-associated molecule, a novel member of the immunoglobulin superfamily, is localized to intercellular boundaries of endothelial cells
D Palmeri et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Share Paper
