Zika Virus Associated with Microcephaly
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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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A 23-Year-Old Man With Seizures and Visual Deficit
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Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Diagnosis and Etiology of Congenital Muscular Dystrophy
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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
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Leber's Hereditary Optic Neuropathy, New Genetic Considerations
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Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
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Pediatric Leigh Syndrome
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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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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Detection of Human Herpesvirus-6 in Cerebrospinal Fluid of Patients with Encephalitis
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Diagnosis and New Treatment in Muscle Channelopathies
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Tuberous Sclerosis
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Whipples Disease
NEJM 356:55-66, Fenollar,F.,et al, 2007
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
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
NEJM 350:2682-2688,2642, Schuelke,M.,et al, 2004
Practice Parameter: Evaluation of the Child with Global Developmental Delay
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Alzheimer Disease
JAMA 287:2335-2338, Cummings,J.L. &Cole,G., 2002
Gliomatosis Cerebri: Molecular Pathology and Clinical Course
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Clinical and Genetic Aspects of Distal Myopathies
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What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999
Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
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Hereditary Hemorrhagic Telangiectasia
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993
Wilson Disease
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Prevalence and Incidence of Becker Muscular Dystrophy
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Molecular Genetics of Duchenne and Becker Muscular Dystrophy
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Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
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