Neurofibromatosis Type 2
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Genetic Markers for Neurofibromatosis
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
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Neurodegeneration with Brain Iron Accumulation
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Spinal Muscular Atrophy A Timely Review
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Neurologic Manifestations of von Hippel-Lindau Disease
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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A Locus for Febrile Seizures (FEB3) Maps to Chromosome 2q23-24
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The Expansion of the CAG Repeat in Ataxin-2 is a Frequent Cause of Autosomal Dominant Spinocerebellar Ataxia
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Recent Progress Toward Understanding the Molecular Biology of Von Recklinghausen Neurofibromatosis
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Wilson Disease
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