标题
Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle
作者
关键词
Neurovascular diseases, Cerebral blood vessels, Smooth muscle, CADASIL, Genetic pathogenesis, Diseases treatment
出版物
METABOLIC BRAIN DISEASE
Volume 30, Issue 5, Pages 1105-1116
出版商
Springer Nature
发表日期
2015-04-20
DOI
10.1007/s11011-015-9668-y
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
- (2014) Antonín Šípek et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Novel G144D mutation of theGLAgene in a Chinese patient with Fabry disease
- (2014) Hui Li et al. JOURNAL OF DERMATOLOGY
- Mutational Screening of NOTCH3 Gene Reveals Two Novel Mutations: Complexity of CADASIL Diagnosis
- (2014) Lorena Mosca et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- A growing global burden
- (2014) Zoë Corbyn NATURE
- Fabry nephropathy: a review – how can we optimize the management of Fabry nephropathy?
- (2014) Stephen Waldek et al. BMC Nephrology
- National mutation study among Danish patients with hereditary haemorrhagic telangiectasia
- (2013) P.M. Tørring et al. CLINICAL GENETICS
- Hereditary hemorrhagic telangiectasia in Japanese patients
- (2013) Masaki Komiyama et al. JOURNAL OF HUMAN GENETICS
- Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis
- (2013) Sule Unal et al. PEDIATRIC BLOOD & CANCER
- Screening for Cerebrovascular Disease in Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II): An Evidence-Based Proposal
- (2013) Luke D. Perry et al. PEDIATRIC NEUROLOGY
- Resolution of cervical syringomyelia after transoral odontoidectomy and occipitocervical fusion in a patient with basilar invagination and Type I Chiari malformation
- (2012) Curtis A. Dickman et al. JOURNAL OF CLINICAL NEUROSCIENCE
- The natural history of Moyamoya in a North American adult cohort
- (2012) Bradley A. Gross et al. JOURNAL OF CLINICAL NEUROSCIENCE
- A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder
- (2011) Ghada M.H. Abdel-Salam et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis
- (2011) Jamie McDonald et al. GENETICS IN MEDICINE
- Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): From Discovery to Gene Identification
- (2011) Toshio Fukutake Journal of Stroke & Cerebrovascular Diseases
- Moyamoya Disease in Early Infancy: Case Report and Literature Review
- (2011) Catherine Amlie-Lefond et al. PEDIATRIC NEUROLOGY
- A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
- (2010) Fumiaki Kamada et al. JOURNAL OF HUMAN GENETICS
- Moyamoya Disease
- (2010) Tariq Parray et al. JOURNAL OF NEUROSURGICAL ANESTHESIOLOGY
- Hereditary hemorrhagic telangiectasia
- (2009) A. Grand'Maison CANADIAN MEDICAL ASSOCIATION JOURNAL
- Hereditary haemorrhagic telangiectasia: a clinical and scientific review
- (2009) Fatima S Govani et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Pericentrin in cellular function and disease
- (2009) Benedicte Delaval et al. JOURNAL OF CELL BIOLOGY
- CADASIL
- (2009) Hugues Chabriat et al. LANCET NEUROLOGY
- Moyamoya Disease and Moyamoya Syndrome
- (2009) R. Michael Scott et al. NEW ENGLAND JOURNAL OF MEDICINE
- Ehlers-Danlos syndromes and Marfan syndrome
- (2008) Bert Callewaert et al. BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY
- Fabry's disease
- (2008) Yuri A Zarate et al. LANCET
- Neurologic Aspects of Microcephalic Osteodysplastic Primordial Dwarfism Type II
- (2008) Cinzia Galasso et al. PEDIATRIC NEUROLOGY
- Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
- (2008) A. Rauch et al. SCIENCE
- Novel epidemiological features of moyamoya disease
- (2007) T Baba et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started