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Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
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Corneal Opacification in Infancy
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A 6-Year-Old Girl with Progressive Toe Walking
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Huntington Disease: Clinical Features and Diagnosis
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Dopamine-Responsive Dystonia
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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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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Fucosidosis Revisited:A Review of 77 Patients
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Prenatal Genetic Diagnosis in 3000 Amniocenteses
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Agenesis of the Corpus Callosum:A Study of the Frequency of Associated Malformations
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Neurodegeneration with Brain Iron Accumulation
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
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Neurologic Manifestations of von Hippel-Lindau Disease
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
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A Locus for Febrile Seizures (FEB3) Maps to Chromosome 2q23-24
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Chromosome 20 Ring:A Chromosomal Disorder Associated with a Particular Electroclinical Pattern
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The Expansion of the CAG Repeat in Ataxin-2 is a Frequent Cause of Autosomal Dominant Spinocerebellar Ataxia
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Creutzfeldt-Jakob Disease in a Young Woman
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The Epilepsy of Trisomy 9p
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X-Linked Malformation of Neuronal Migration
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The Inherited Ataxias and the New Genetics
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Dopamine, Dystonia, and the Deficient Co-Factor
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Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
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Clinical Spectrum of CADASIL:A Study of 7 Families
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