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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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Aicardi-Gouti�res Syndrome
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Amyotrophic Lateral Sclerosis
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Unusual Variants of Alexander's Disease
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Prader-Willi and Angelman Syndromes
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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