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Familial Subacute Necrotizing Encephalomyelopathy of the Adult Form (Adult Leigh Syndrome)
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Dominant Juvenile Optic Atrophy
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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Bilateral Hearing Loss and Constricted Visual Fields
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Duchenne Muscular Dystrophy
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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Hydrocephalus in Children
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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A Young Man with Progressive Vision and Hearing Loss
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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The Limbic-Girdle Muscular Dystrophies
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Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
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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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Malignant Hyperthermia, Update on Susceptibility Testing
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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Mucolipidosis Type IV; Characteristic MRI Findings
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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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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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
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Progressive Vison Loss, A Rare Manifestation of Familial Cavernous Angiomas
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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Wilson's Disease:Current Status
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Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Adrenoleukodystrophy
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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
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Refsum Disease
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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