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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Hereditary Hemorrhagic Telangiectasia
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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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Intracranial Neoplasms and Paraneoplastic Disorders
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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Neurofibromatosis Type 2
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Whipples Disease
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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The Hereditary Spastic Paraplegias
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Clinical and Genetic Aspects of Distal Myopathies
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Hereditary Spastic Paraparesis: A Review of New Developments
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Prader-Willi and Angelman Syndromes
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Investigation of Muscle Disease
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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
The Nondystrophic Myotonias
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Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
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Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
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