A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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"Disappearing Infarct" Is Late-Onset MELAS
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017
Characyeristic features and progression of abnormalities on MRI for CARASIL
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Aicardi-Gouti�res Syndrome
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Metabolic Disease and Stroke: MELAS
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Advances in the Genetics of Cerebrovascular Disease and Stroke
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The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Cerebrovascular Complications of Fabry's Disease
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
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Cerebrovascular Disease in Ehlers-Danlos Syndrome Type IV
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Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
Lancet 2:603-604, Palsdottir,A.,et al, 1988
Mendelian Etiologies of Stroke
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Cerebral Haemorrhagic Infarction in Young Patients with Hereditary Protein C Deficiency
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Abnormal Metabolism of y-Trace Alkaline Microprotein
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Pseudoxanthoma Elasticum:A Review of Neurological Complications
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
Neurol 102:e209385, Nishida,K.,, 2024
A 35-Year-Old Woman with Personality Change and Gait Impairment
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
Neurol 98:468-469, Zhao, B.,et al, 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Duchenne Muscular Dystrophy
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
Neurol 94:994-999, Wildman, J.,et al, 2020
Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
Pediatric Leigh Syndrome
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
Ehlers-Danlos Syndromes
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018