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The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
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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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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
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Inherited Primary Peripheral Neuropathies
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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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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
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Retinitis Pigmentosa
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Genome Sequencing in the NICU and PICU is Here to Stay
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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More Than a Little Unsteady
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Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
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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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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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Huntington Disease: Clinical Features and Diagnosis
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Red Papules on the Tongue of a Patient with Hemiparesis
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The Limbic-Girdle Muscular Dystrophies
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