A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Dopamine-Responsive Dystonia
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Advances in the Genetics of Cerebrovascular Disease and Stroke
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Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Huntington Disease: Clinical Features and Diagnosis
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Spinal Muscular Atrophy A Timely Review
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Neurofibromatosis Type 2
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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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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
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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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Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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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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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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Clinical Genetics in Neurological Disease
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Advances in Molecular Analysis of Fragile X Syndrome
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Progr Myoclonus Epilepsy of Unverricht-Lundborg Type:Clin & Molecular Genetic Study from US 4 Affected Sibs
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Unstable DNA Sequence in Myotonic Dystrophy
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