Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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Cavernous Maliformations of the Central Nervous System
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Vascular Malformations of the Central Nervous System
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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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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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations
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A 53-year-old Woman with Lower Extremity Paresthesias
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Complex Ataxia
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Recurrent Cerebral Ischemia During Pregnancies
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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Strokelike Episodes in a Patient with Chronic Gait Abnormalities
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Ehlers-Danlos Syndromes
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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A 60-year-old man with arm weakness and numbness
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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
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Cranial Cavernous Malformations
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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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MR Neurography for the Diagnosis of Hypertrophic Neuropathies
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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
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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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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Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
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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)
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Comparison of Clinical, Familial, and MRI Features of CADASIL and NOTCH3-Negative Patients
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Familial Versus Sporadic Cavernous Malformations: Differences in Developmental Venous Anomaly Association and Lesion Phenotype
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Optimal Screening Strategy for Familial Intracranial Aneurysms: A Cost-Effectiveness Analysis
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
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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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Update on the Natural History of Cavernous Malformations and Factors Predicting Aggressive Clinical Presentation
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Genomewide Association Studies of Stroke
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