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Molybdenum Cofactor Deficiency
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Clinical Genetics in Neurological Disease
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
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Genetic Aspects of Alzheimer Disease
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Autism
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Prader-Willi and Angelman Syndromes
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Niemann-Pick Disease Type C from Bench to Bedside
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Myotonic Dystrophy
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Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
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De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
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Causal Heterogeneity in Isolated Lissencephaly
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A Clinical Study of Noonan Syndrome
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Lisch Nodules in Neurofibromatosis Type I
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Genetic Markers for Neurofibromatosis
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Recognising & Preventing Duchenne Muscular Dystrophy
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Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
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Recurrent Cerebral Ischemia During Pregnancies
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Ehlers-Danlos Syndromes
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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A 10-year-old boy with Bilateral Vision Loss
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Neurological Management of Von Hippel-Lindau Disease
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A 52-year-old Woman with Progressive Proximal Weakness
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Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
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The Tuberous Sclerosis Complex
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Sensorineural Hearing Loss in Children
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Adrenoleukodystrophy
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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
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The Muscular Dystrophies
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The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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