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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Neurodegeneration with Brain Iron Accumulation
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Cognitive Delay in a 7-year-old Girl
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Clinicopath Conf, Infantile Krabbe Disease
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MRI in Methylmalonic Acidemia
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Multivessel Cerebral Occlusion in Noonan Syndrome
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Melas Syndrome
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Spinal Muscular Atrophy
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Sturge-Weber Syndrome
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Gray Matter Heterotopia
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Subcortical Heterotopia:A Distinct Clinicoradiologic Entity
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Perinatal Loss and Neurological Abnormalities Among Children of the Atomic Bomb
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