Associated Papers
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
Ischemic stroke in a patient with Fahr's disease carrying biallelic mutations in the MYORG gene.
Li Y et al.
Neurosciences (riyadh, Saudi Arabia), 2022
The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity.
Meek RW et al.
Plos Biology, 2022
36129849 (PubMed )
Supplement: pbio.3001764.s007.pdf
Primary familial brain calcification in a patient with a novel compound heterozygous mutation in MYORG presenting with an acute ischemic stroke: a case report.
Yang Q et al.
Annals of Translational Medicine, 2022
Primary Familial Brain Calcification Caused by a Novel Compound Heterozygous Mutation in the MYORG Gene.
Tsai MC et al.
Acta Neurologica Taiwanica, 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
The first Japanese case of primary familial brain calcification caused by an MYORG variant.
Kume K et al.
Journal of Human Genetics, 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
Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
Grangeon L et al.
Brain : a Journal of Neurology, 2019
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