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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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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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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
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Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
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Mitochondrial DNA and Disease
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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Early-Onset Head Titubation in a Child with Poretti-Boltshauser Syndrome
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Progressive Neuropsychiatric Symptoms and Motor Impairment
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Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Refsum Disease
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Olivopontocerebellar Atrophy with Dementia, Blindness, & Chorea, Response to Baclofen
Arch Neurol 42:757-758, Trauner,D.A., 1985
Phytanic Acid Storage Disease:Hearing Maintained After 15 Years of Dietary Treatment
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Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
Ann Neurol 10:355-363, Colan,R.V.,et al, 1981
Heredopathia Atactica Polyneuritiformis
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Abetalipoproteinemia, Report of Two Cases & Review of Therapy
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Kearns-Sayre Syndrome with Hypoparathyroidism
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