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注意:仅列出部分参考文献,下载原文获取全部文献信息。A novel mutation in MYORG leads to primary familial brain calcification and cerebral infarction
Liang Gao et al.
INTERNATIONAL JOURNAL OF NEUROSCIENCE (2022)
Primary familial brain calcification in a patient with a novel compound heterozygous mutation in MYORG presenting with an acute ischemic stroke: a case report
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ANNALS OF TRANSLATIONAL MEDICINE (2022)
Basal ganglia calcification in hypoparathyroidism and pseudohypoparathyroidism: local and systemic metabolic mechanisms
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JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2021)
Case Report First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature
Leman Tekin Orgun et al.
BRAIN & DEVELOPMENT (2021)
Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification
Yi-Heng Zeng et al.
FRONTIERS IN GENETICS (2021)
Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl
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MOLECULAR GENETICS & GENOMIC MEDICINE (2021)
Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review
Alexander Balck et al.
MOVEMENT DISORDERS (2021)
Idiopathic basal ganglia calcification associated with new MYORG mutation site: A case report
Bei-Ni Fei et al.
WORLD JOURNAL OF CLINICAL CASES (2021)
MYORG mutation heterozygosity is associated with brain calcification
You Chen et al.
MOVEMENT DISORDERS (2020)
Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis
Uriel Lopez-Sanchez et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2020)
The first Japanese case of primary familial brain calcification caused by an MYORG variant
Kodai Kume et al.
JOURNAL OF HUMAN GENETICS (2020)
Overlapping Diseases in a Brazilian Subject with Brain Calcification Linked to Novel Phenotypes
Laura D. Ferreira et al.
JOURNAL OF MOLECULAR NEUROSCIENCE (2020)
Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report
Shih-Ying Chen et al.
BMC NEUROLOGY (2020)
Neurovascular mechanisms of migraine and cluster headache
Jan Hoffmann et al.
JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM (2019)
Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype
Lou Grangeon et al.
BRAIN (2019)
New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy
Laura D. Ferreira et al.
BRAIN (2019)
Primary familial brain calcifications: genetic and clinical update
Ana Westenberger et al.
CURRENT OPINION IN NEUROLOGY (2019)
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification
Yalda Forouhideh et al.
BRAIN (2019)
Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification
Xiang-Ping Yao et al.
NEURON (2018)
PATHOPHYSIOLOGY OF MIGRAINE: A DISORDER OF SENSORY PROCESSING
Peter J. Goadsby et al.
PHYSIOLOGICAL REVIEWS (2017)
Primary Familial Brain Calcification With Known Gene Mutations A Systematic Review and Challenges of Phenotypic Characterization
Vera Tadic et al.
JAMA NEUROLOGY (2015)
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification
Gael Nicolas et al.
NEUROLOGY (2013)