Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1
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Title
Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1
Authors
Keywords
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Journal
Journal of Neurosurgery-Pediatrics
Volume 17, Issue 6, Pages 717-722
Publisher
Journal of Neurosurgery Publishing Group (JNSPG)
Online
2016-02-05
DOI
10.3171/2015.10.peds15537
References
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Related references
Note: Only part of the references are listed.- Genetic Analysis of RNF213 c.14576G>A Variant in Nonatherosclerotic Quasi-Moyamoya Disease
- (2015) Satoru Miyawaki et al. Journal of Stroke & Cerebrovascular Diseases
- Genetic Analysis of RNF213 c.14576G>A Variant in Nonatherosclerotic Quasi-Moyamoya Disease
- (2015) Satoru Miyawaki et al. Journal of Stroke & Cerebrovascular Diseases
- Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy
- (2014) Katherine R. Smith et al. International Journal of Stroke
- Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state
- (2014) Daisuke Morito et al. Scientific Reports
- Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients
- (2013) Toshiaki Hitomi et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization
- (2013) McKenzie Koss et al. Journal of Neurosurgery-Pediatrics
- Genetic Variant RNF213 c.14576G>A in Various Phenotypes of Intracranial Major Artery Stenosis/Occlusion
- (2013) Satoru Miyawaki et al. STROKE
- Cerebral Vasculopathy in Children With Neurofibromatosis Type 1
- (2012) Partha S. Ghosh et al. JOURNAL OF CHILD NEUROLOGY
- Neurofibromatosis type 1: from genotype to phenotype
- (2012) Eric Pasmant et al. JOURNAL OF MEDICAL GENETICS
- Homozygous c.l4576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease
- (2012) S. Miyatake et al. NEUROLOGY
- Loss of NF1 Expression in Human Endothelial Cells Promotes Autonomous Proliferation and Altered Vascular Morphogenesis
- (2012) Anshika Bajaj et al. PLoS One
- P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure
- (2012) Akio Koizumi et al. Environmental Health and Preventive Medicine
- A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
- (2010) Fumiaki Kamada et al. JOURNAL OF HUMAN GENETICS
- Moyamoya Disease and Moyamoya Syndrome
- (2009) R. Michael Scott et al. NEW ENGLAND JOURNAL OF MEDICINE
- Cerebral Arteriopathy in Children With Neurofibromatosis Type 1
- (2009) D. Rea et al. PEDIATRICS
- Cerebrovascular dysplasia in neurofibromatosis type 1
- (2008) A G Cairns et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Neurofibromatosis Type 1 Revisited
- (2008) V. C. Williams et al. PEDIATRICS
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