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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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Intracranial Neoplasms and Paraneoplastic Disorders
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The Autosomal Recessive Cerebellar Ataxias
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Diagnosis and New Treatment in Muscle Channelopathies
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
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Whipples Disease
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The Tuberous Sclerosis Complex
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Pathogenetic Mechanisms of Parkin in Parkinson's Disease
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Alzheimer's Disease and Parkinson's Disease
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Alzheimer Disease
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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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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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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Mitochondrial DNA and Disease
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Wilson Disease
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Causal Heterogeneity in Isolated Lissencephaly
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Population Screening for Fragile X
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Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
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Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
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Prion Dementia Without Characteristic Pathology
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