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New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
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Causal Heterogeneity in Isolated Lissencephaly
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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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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Neurofibromatosis Type 2
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Neurologic Manifestations of von Hippel-Lindau Disease
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Decoding Cryptogenic Cardioembolism
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
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Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
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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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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Natural History in Proximal Spinal Muscular Atrophy
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Clinical Genetics in Neurological Disease
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Progress in the Genetics of Cerebrovascular Disease Inherited Subcortical Arteriopathies
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Genetics and Physiology of the Myotonic Muscle Disorders
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Detecting Susceptibility to Malignant Hyperthermia
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Unstable DNA Sequence in Myotonic Dystrophy
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Cockayne Syndrome: Review of 140 Cases
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Fucosidosis Revisited:A Review of 77 Patients
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