Moyamoya Disease
What's New
Last Posted: Jan 15, 2025
- Association Between Folate Metabolism Risk, Collateral Circulation, and Hemorrhagic Risk in Moyamoya Disease.
Junsheng Li, et al. Translational stroke research 2025 0 - HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.
Jun Xu, et al. European journal of neurology 2024 0 e16473 - [Genetic Analysis of Cerebrovascular Diseases].
Satoru Miyawaki, et al. No shinkei geka. Neurological surgery 2024 0 (5) 1057-1081 - Association of rare variants in RNF213 with severe progression of intracranial artery stenosis in quasi-moyamoya disease.
Seiei Torazawa, et al. Journal of neurosurgery 2024 0 1-10 - RNF213 Mutation Associated with the Progression from Middle Cerebral Artery Steno-Occlusive Disease to Moyamoya Disease.
Tomoki Sasagasako, et al. Translational stroke research 2024 0 - Moyamoya syndrome after proton beam therapy in a pediatric patient with a pineal germ cell tumor and a germline polymorphism in RNF213.
Ting-Chun Lin, et al. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024 0 - Prevalence of RNF213 rs112735431 Genetic Polymorphism in Non-Cardioembolic Ischemic Cerebrovascular Disease: A Cross-Sectional Study in Thai Patients.
Suporn Travanichakul, et al. Cerebrovascular diseases extra 2024 0 - RNF213 Polymorphisms in Intracranial Artery Dissection.
Marialuisa Zedde, et al. Genes 2024 0 (6) - RNF213 Variants, Vasospastic Angina, and Risk of Fatal Myocardial Infarction.
Keiko Hikino, et al. JAMA cardiology 2024 0 - Molecular Biomarkers Affecting Moyamoya Disease.
Yong-Kwang Tu, et al. Advances and technical standards in neurosurgery 2024 0 1-18
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Content source:


