A 22-Year-Old Man with Progressive Bilateral Visual Loss
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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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Clinicopath Conf
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Periodic Meningitis & Familial Mediterranean Fever
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Two Cases of Van Buchem's Disease
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Pathogenesis of Pseudotumor Cerebri Syndromes
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Neurological Manifestations of Fabry Disease in Female Carriers
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Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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Neurological Management of Von Hippel-Lindau Disease
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Red Papules on the Tongue of a Patient with Hemiparesis
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Sturge-Weber Syndrome
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Sturge-Weber Syndrome
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Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
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Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Metabolic Disease and Stroke: MELAS
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Cerebrovascular Complications of Fabry's Disease
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Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
Intracranial Hemorrhage in Patients with Polycystic Kidney Disease
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Livedo Reticularis, Porcelain-White Scars, and Cerebral Thromboses
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Neuro-Ophthalmologic Findings in Vestibulocerebellar Ataxia
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Familial Porencephaly
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Von Recklinghausen Neurofibromatosis
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Pseudoxanthoma Elasticum:A Review of Neurological Complications
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Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
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Ribbon-Like Sign in Convexity Subarachnoid Hemorrhage
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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Multivessel Cerebral Occlusion in Noonan Syndrome
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Melas Syndrome
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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
NEJM 391:1015-1027, Al-Samkari,H.,et al, 2024
A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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RNF213 Polymorphisms in Intracranial Artery Dissection
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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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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Neonatal Seizures
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Thyrotoxic Periodic Paralysis
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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