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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Familial Subarachnoid Hemorrhage:Distinctive Features and Patterns of Inheritance
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Hereditary Hemorrhagic Telangiectasia
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Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
Stroke 25:508-510, Papa,M.L.,et al, 1994
Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Cerebral Haemorrhage and Berry Aneurysm:Evidence from a Family for a Pattern of Autosomal Dominant Inheritance
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Intracranial Hemorrhage in Patients with Polycystic Kidney Disease
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Cerebrovascular Disease in Ehlers-Danlos Syndrome Type IV
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Cerebral Amyloid Angiopathy, A Critical Review
Stroke 18:311-324, Vinters,H.V., 1987
Mendelian Etiologies of Stroke
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Acid Maltase Deficiency
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Pseudoxanthoma Elasticum:A Review of Neurological Complications
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Neurological Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
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
"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021
Duchenne Muscular Dystrophy
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Molybdenum Cofactor Deficiency
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Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
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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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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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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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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Neurofibromatosis Type 2
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Screening for Intracranial Aneurysms in ADPKD: A More Accurate Risk Assignment Model Is Needed
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