Cranial Cavernous Malformations
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Sturge-Weber Syndrome
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Sturge-Weber Syndrome
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Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A 10-Year-Old Girl with Muscle Stiffness
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
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Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
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A Case of Refractory Nocturnal Seizures
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Polycythemia Vera Presenting with Ischemic Strokes in Multiple Arterial Territories
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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Clinical Features of MS Associated with Leber Hereditary Optic Neuropathy mtDNA Mutations
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Metabolic Disease and Stroke: MELAS
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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De Novo Mutation in the Notch3 Gene Causing CADASIL
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the a-Tocopherol-Transfer Protein
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