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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Mitochondrial DNA and Disease
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Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Ehlers-Danlos Syndromes
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Zika Virus Associated with Microcephaly
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Clinicopathologic Conference, Oligdendroglioma II/IV with IDH1 R132H mutation and codelation of 1p and 19q
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A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
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Detection of Human Herpesvirus-6 in Cerebrospinal Fluid of Patients with Encephalitis
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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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Diagnosis and Etiology of Congenital Muscular Dystrophy
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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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von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003
Alzheimer Disease
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Sickle Cell Disease: The Neurological Complications
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Gliomatosis Cerebri: Molecular Pathology and Clinical Course
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Impact of the Human Genome Projects and Identification of a Stroke Gene
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Clinical and Genetic Aspects of Distal Myopathies
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Linkage of Proximal Myotonic Myopathy to Chromosome 3q
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Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Prader-Willi and Angelman Syndromes
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The Muscular Dystrophies
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von Hippel-Lindau Disease
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Investigation of Muscle Disease
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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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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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The Prevention of Neurogenetic Disease
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Hereditary Hemorrhagic Telangiectasia
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Clinical Genetics in Neurological Disease
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Congenital Myopathies
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Myotonic Dystrophy
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The DNA Laboratory and Neurolgoical Practice
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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
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Molecular Genetics in Neurology
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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