Vertical Supranuclear Gaze Palsy in Primary Familial Brain Calcification Associated with a Novel SLC20A2 Mutation
Author:
Affiliation:
1. Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic Toronto Western Hospital Toronto Ontario Canada
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13604
Reference11 articles.
1. Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review
2. Diffuse Brain Calcification, a Novel SLC20A2 Variant, Vertical Supranuclear Gaze Palsy, and Systemic Lupus Erythematosus
3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
4. Idiopathic Basal Ganglia Calcification Presented with Progressive Supranuclear Palsy-like Features
5. MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism
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