Associated Papers
Alternative start codon selection shapes mitochondrial function and rare human diseases.
Ly J et al.
Molecular Cell, 2025
41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMMC6.xlsx › SupplementalTableS5
Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review.
Zhao T et al.
Molecular Genetics & Genomic Medicine, 2023
A novel MYORG mutation causes primary familial brain calcification with migraine: Case report and literature review.
Song T et al.
Frontiers in Neurology, 2023
The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity.
Meek RW et al.
Plos Biology, 2022
Paroxysmal Kinesigenic Dyskinesia Secondary to Brain Calcification with a Homozygous MYORG Mutation.
Du J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification.
Zeng YH et al.
Frontiers in Genetics, 2021
The first Japanese case of primary familial brain calcification caused by an MYORG variant.
Kume K et al.
Journal of Human Genetics, 2020
Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report.
Chen SY et al.
Bmc Neurology, 2020
MYORG Mutation Heterozygosity Is Associated With Brain Calcification.
Chen Y et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2020
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism.
Chelban V et al.
Neurology. Genetics, 2020
MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification.
Bauer M et al.
Current Neurology and Neuroscience Reports, 2019
Evaluation of MYORG mutations as a novel cause of primary familial brain calcification.
Chen Y et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.
Yao XP et al.
Neuron, 2018
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