Cerebromeningeal Haemophagocytic Lymphohistiocytosis
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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Neuromyelitis Optica Spectrum Disorders
UpToDate, May, Glisson,C.C., 2016
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Familial Neuromyelitis Optica
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Aicardi-Gouti�res Syndrome
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The Occurence of Guillain-Barre Syndrome Within Families
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Cardiac Dysfunction in Neuromuscular Diseases
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Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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Polyneroupathies of Undetermined Cause
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Multivessel Cerebral Occlusion in Noonan Syndrome
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Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Vascular Malformations of the Central Nervous System
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A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
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Thyrotoxic Periodic Paralysis
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Recurrent Cerebral Ischemia During Pregnancies
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Ehlers-Danlos Syndromes
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Clinical Reasoning: A Teenager with Left Arm Weakness
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Cranial Cavernous Malformations
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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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A 10-year-old boy with Bilateral Vision Loss
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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A 52-year-old Woman with Progressive Proximal Weakness
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Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
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Vertebral Artery Dissection in Patients with Autosomal Dominant Polycystic Kidney Disease
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Screening Patients with a Family History of Subarachnoid Haemorrhage for Intracranial Aneurysms: Screening Uptake, Patient Characteristics and Outcome
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Cerebral Amyloid Angiopathy
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The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
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An unusual cause of stroke and hypoxia
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Comparison of Clinical, Familial, and MRI Features of CADASIL and NOTCH3-Negative Patients
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Optimal Screening Strategy for Familial Intracranial Aneurysms: A Cost-Effectiveness Analysis
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
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