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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Metabolic Disease and Stroke: MELAS
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MR Imaging of Familial Basilar Impression
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Spinal Muscular Atrophy
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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A Neonate with Micrognathia and Hypotonia
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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A 52-year-old Woman with Progressive Proximal Weakness
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Glycogen-Storage Disease Type II
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
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Central Nervous System Involvement in Von Hippel-Lindau Disease
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Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
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Adrenomyeloneuropathy Presenting as Addison's Disease in Childhood
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Neurologic Crises in Hereditary Tyrosinemia
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Anderson-Fabry Disease
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Acute Intermittent Porphyria
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Ethanol and the Nervous System
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Adrenoleukodystrophy
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Rett Syndrome:Natural History and Management
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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