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
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Lynch MT et al.
American Journal of Medical Genetics. Part A, 2022
Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification.
Zeng YH et al.
Frontiers in Genetics, 2021
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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