Cavernous Maliformations 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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High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Hereditary Hemorrhagic Telangiectasia
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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Familial Cavernous Malformations of the Central Nervous System & Retina
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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Neuromyelitis Optica Spectrum Disorders
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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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Familial Neuromyelitis Optica
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Spinal Muscular Atrophy
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Primary Brain Tumours in Adults
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Familial Neuromyelitis Optica (Devics Syndrome) with Late Onset in Japan
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998
Monomelic Amyotrophy
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Magnetic Resonance Imaging in Hereditary and Idiopathic Ataxia
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Chronic Neurodegenerative Disease Associated with HTLV-II Infection
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Brain Tumors
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Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
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Recurrent Meningitis in a Patient with Congenital Deficiency of the C9 Component of Complement
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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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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Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
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Amyotrophic Lateral Sclerosis
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Recurrent Cerebral Ischemia During Pregnancies
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Ehlers-Danlos Syndromes
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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A 42-year-old man with unilateral leg weakness
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Cranial Cavernous Malformations
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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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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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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Degenerative Diseases of the Nervous System, Hereditary Spastic Paraplagia
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Vertebral Artery Dissection in Patients with Autosomal Dominant Polycystic Kidney Disease
J Stroke Cerebrovasc Dis 23:441-443, Kuroki, T.,et al, 2014
Screening Patients with a Family History of Subarachnoid Haemorrhage for Intracranial Aneurysms: Screening Uptake, Patient Characteristics and Outcome
JNNP 83:86-88, Miller, T.D.,et al, 2012
Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
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Cerebral Amyloid Angiopathy
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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