A Variegated Squirrel Bornavirus Associated with Fatal Human 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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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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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
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Zika Virus Associated with Microcephaly
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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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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Detection of Human Herpesvirus-6 in Cerebrospinal Fluid of Patients with Encephalitis
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Neurofibromatosis Type 2
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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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, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Aromatic L-Amino Acid Decarboxylase Deficiency
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The Hereditary Spastic Paraplegias
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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Alzheimer Disease
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Gliomatosis Cerebri: Molecular Pathology and Clinical Course
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Prader-Willi and Angelman Syndromes
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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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
Medicine 75:233-250, Murakami,T.,et al, 1996
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
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Causal Heterogeneity in Isolated Lissencephaly
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Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
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Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
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