Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

MYORG is associated with recessive primary familial brain calcification

15 Nov 2018

Abstract excerpt

Abstract Objective To investigate the genetic basis of the recessive form of primary familial brain calcification and study pathways linking a novel gene with known dominant genes that cause the disease. Methods Whole exome sequencing and Sanger‐based segregation analysis were used to identify possible disease causing mutations. Mutation pathogenicity was validated by structural protein modeling. Functional...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Medical Imaging and Pathology Studies
Share to Parathyroid Disorders and Treatments
Share to Thyroid and Parathyroid Surgery

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30656188
DOI: 10.1002/acn3.684

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MYORG is associated with recessive primary familial brain calcificationPMID 30656188Read ↗

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotypeSemantic proximity Read ↗

Evaluation of MYORG mutations as a novel cause of primary familial brain calcificationSemantic proximity Read ↗

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.Semantic proximity Read ↗

Report of a young patient with brain calcifications with a novel homozygous MYORG variant.Semantic proximity Read ↗

Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review.Semantic proximity Read ↗

Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implicationsSemantic proximity Read ↗

Primary Familial Brain Calcification Caused by a Novel Compound Heterozygous Mutation in the MYORG Gene.Semantic proximity Read ↗

A novel mutation in MYORG leads to primary familial brain calcification and cerebral infarction.Semantic proximity Read ↗

MYORG Mutation Heterozygosity Is Associated With Brain Calcification.Semantic proximity Read ↗

Primary familial brain calcifications: genetic and clinical updateSemantic proximity Read ↗

Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.Semantic proximity Read ↗

Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.