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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Mucolipidosis Type IV; Characteristic MRI Findings
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Acquired Ocular Visual Impairment in Children, 1960-1989
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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MR Imaging of a Group I Case of Hallervorden-Spatz Disease
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Ocular Complications of Tangier Disease
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Two Cases of Van Buchem's Disease
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Progressive Pontobulbar Palsy With Deafness
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Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
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Dominant Juvenile Optic Atrophy
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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A Young Man with Progressive Vision and Hearing Loss
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Mitochondrial DNA Polymerase-y and Human Disease
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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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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Cockayne Syndrome: Review of 140 Cases
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
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Mitochondrial DNA and Genetic Disease
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Hereditary Motor & Sensory Neuropathy with Optic Atrophy, Ultrastructural and Morphometic Observations
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