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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Neurofibromatosis Type I in Children
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Dopa-Responsive Dystonia Revisited
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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Tuberous Sclerosis Complex: A Tale of Two Genes
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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The Tuberous Sclerosis Complex
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Unusual Variants of Alexander's Disease
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
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Alzheimer's Disease and Parkinson's Disease
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Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Genetic Studies on Chromosome 12 in Late-Onset Alzheimer Disease
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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