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High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations
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Spinal Muscular Atrophy
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Primary Brain Tumours in Adults
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998
Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
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Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
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Familial Cavernous Malformations of the Central Nervous System & Retina
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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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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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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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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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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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Degenerative Diseases of the Nervous System, Hereditary Spastic Paraplagia
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Familial Neuromyelitis Optica
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Aicardi-Gouti�res Syndrome
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Dopamine-Responsive Dystonia
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Familial Neuromyelitis Optica (Devics Syndrome) with Late Onset in Japan
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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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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Occurrence of MS-Like Illness in Women Who Have a Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Recurrent Meningitis in a Patient with Congenital Deficiency of the C9 Component of Complement
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Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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Mendelian Etiologies of Stroke
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A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
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Vascular Malformations of the Central Nervous System
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Amyotrophic Lateral Sclerosis
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Complex Ataxia
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
Neurol 92:486-492, Lau, K.H.V.,et al, 2019
A Teenager with Persistent Headache
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Strokelike Episodes in a Patient with Chronic Gait Abnormalities
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