Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle

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