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Neuroimaging Changes in Menkes Disease, Part 1
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Amyotrophic Lateral Sclerosis
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Prader-Willi and Angelman Syndromes
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Copper-Histidine Therapy for Menkes Disease
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Fatal Familial Insomnia, A Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
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Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
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Wilson Disease
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Angelman Syndrome: Clinical Profile
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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CT Scans in Menkes Disease
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Blue Rubber Bleb Nevus Syndrome with CNS Involvement & Thrombosis of a Vein of Galen Malformation
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Diagnosis of Treatable Wilson's Disease
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Abnormal Iris Vasculature in Myotonic Dystrophy
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Angiokeratoma Corporis Diffusum
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