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An unusual cause of stroke and hypoxia
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Hereditary Hemorrhagic Telangiectasia
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Parkin Disease
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A Multidisciplinary Study of Patients with Early-Onset PD with and Without Parkin Mutations
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Parkinsons Disease and Genetics
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
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Neuroimaging Features of Biotinidase Deficiency
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Sturge-Weber Syndrome
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Alzheimers Disease
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Recurrent Cerebral Ischemia During Pregnancies
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Ehlers-Danlos Syndromes
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Muscular Dystrophies
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Amyotrophic Lateral Sclerosis
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Neuroradiologic Patterns and Novel Imaging Findings in Aicardi-Goutieres Syndrome
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Neurological Management of Von Hippel-Lindau Disease
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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The Autosomal Recessive Cerebellar Ataxias
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Dopa-Responsive Dystonia Revisited
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Diagnosis and New Treatments in Muscular Dystrophies
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Aicardi-Gouti�res Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
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Spinal Muscular Atrophy
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Neurofibromatosis
JAMA 300:352, Torpy,J.M.,et al., 2008
Tuberous Sclerosis
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Amyotrophic Lateral Sclerosis
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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The Tuberous Sclerosis Complex
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Parkinson's Disease
Lancet 363:1783-1793, Samii,A.,et al, 2004
Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
NEJM 348:1442-1448,1480, Siddiqui,A.,et al, 2003
Amyotrophic Lateral Sclerosis
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Complete Genomic Screen in Parkinson Disease
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Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
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The Muscular Dystrophies
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The Diagnostic Evaluation & Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Spinocerebellar Ataxias and Ataxins
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Wilson Disease
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Brain Tumors
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The Dystonias
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