Primary Brain Tumours in Adults
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Pes Cavus and Neuropathy
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Ehlers-Danlos Syndromes
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A Child with Arthrogryposis
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Clinicopathologic Conference, Oligdendroglioma II/IV with IDH1 R132H mutation and codelation of 1p and 19q
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
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The Autosomal Recessive Cerebellar Ataxias
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Spinal Muscular Atrophy A Timely Review
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Diagnosis and New Treatment in Muscle Channelopathies
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Spinal Muscular Atrophy
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Tuberous Sclerosis
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Whipples Disease
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Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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The Tuberous Sclerosis Complex
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Aromatic L-Amino Acid Decarboxylase Deficiency
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von Hippel-Lindau Disease
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Alzheimer Disease
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Gliomatosis Cerebri: Molecular Pathology and Clinical Course
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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What Level of Care for the Neurofibromatoses?
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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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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Hereditary Hemorrhagic Telangiectasia
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Myotonic Dystrophy
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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
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Gene Therapy for Neurologic Disease
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Wilson Disease
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The First Decade of Molecular Genetics in Neurology:Changing Clinical Thought and Practice
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Severe Myotonic Crisis Resembling Malignant Hyperthermia
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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The Spectrum of Fragile X Disorders
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Infantile Epileptic Spasms Syndrome (West Syndrome)
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Cavernous Maliformations of the Central Nervous System
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Vascular Malformations of the Central Nervous System
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Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
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Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
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A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Neuroimaging Features of Biotinidase Deficiency
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