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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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The Tuberous Sclerosis Complex
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
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Ehlers-Danlos Syndromes
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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An unusual cause of stroke and hypoxia
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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A 23-Year-Old Man With Seizures and Visual Deficit
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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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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Prader-Willi and Angelman Syndromes
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The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
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Intelligence and the X Chromosome
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Hereditary Hemorrhagic Telangiectasia
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Familial Alzheimer's Disease
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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