Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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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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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
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Neurological Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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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
Ann Neurol 99:881-882, Liu,S-X.,et al, 2026
A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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A 9-Year-Old Girl with CNS Immune Dysregulation
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Multivessel Cerebral Occlusion in Noonan Syndrome
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Melas Syndrome
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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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 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 2024
RNF213 Polymorphisms in Intracranial Artery Dissection
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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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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Unilateral Leukoencephalopathy Revealing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
Pediatric Leigh Syndrome
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Acute Cortical Lesions in MELAS Syndrome: Anatomic Distribution, Symmetry, and Evolution
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Muscular Dystrophies
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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Bipolar II Disorder as the Initial Presentation of CADASIL:An Underdiagnosed Manifestation
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016
Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
Neurol 84:226-230,218, Wolf, N.I.,et al, 2015
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015