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A Neonate with Micrognathia and Hypotonia
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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Multivessel Cerebral Occlusion in Noonan Syndrome
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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Bilateral Hearing Loss and Constricted Visual Fields
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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 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Cognitive Impairment Profile in adult Patients with Neimnn Pick Type C Disease
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Somatic Mutations in Cerebral Cortical Malformations
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A 52-year-old Woman with Progressive Proximal Weakness
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Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
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The Limbic-Girdle Muscular Dystrophies
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Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
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Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
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Spinal Muscular Atrophy A Timely Review
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Screening for Intracranial Aneurysms in ADPKD: A More Accurate Risk Assignment Model Is Needed
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The Floppy Infant: Evaluation of Hypotonia
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Glycogen-Storage Disease Type II
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Developmental Dyslexia
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