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
Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.
Teerlink CC et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022
34151536 (PubMed )
Supplement: ALZ-18-307-s002.xlsx › Predicted_Deleterious_Filter
The first Japanese case of primary familial brain calcification caused by an MYORG variant.
Kume K et al.
Journal of Human Genetics, 2020
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism.
Chelban V et al.
Neurology. Genetics, 2020
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