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Cause of Weakness in Myasthenia Gravis
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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Duchenne Muscular Dystrophy
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Muscular Dystrophies
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Neuroimaging Changes in Menkes Disease, Part 1
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Hematologic Disorders and Ischemic Stroke
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Multiple Sclerosis & Systemic Lupus Erythematosus, Occurrence in Two Generations of the Same Family
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Periodic Meningitis & Familial Mediterranean Fever
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Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Neonatal Seizures
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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Ehlers-Danlos Syndromes
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Neurological Management of Von Hippel-Lindau Disease
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Red Papules on the Tongue of a Patient with Hemiparesis
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Neurofibromatosis Type 2
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Neuroimaging Findings in Human Prion Disease
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The Tuberous Sclerosis Complex
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Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
Neurol 48:482-485, Zhou,Y.X.,et al, 1997
Autosomal Dominant Cerebellar Phenotypes:The Genotype has Settled the Issue
Neurol 45:1-5, Rosenberg,R.N., 1995
Clinical and Genetic Studies of Fatal Familial Insomnia
Neurol 45:1068-1075, Reder,A.T.,et al, 1995
Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
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Hereditary Hemorrhagic Telangiectasia
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