Clinicopathological Conference
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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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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 10-year-old boy with Bilateral Vision Loss
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Hydrocephalus in Children
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A Young Man with Progressive Vision and Hearing Loss
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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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Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
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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
Neurol 53:629-631, Weil,S.,et al, 1999
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
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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Cockayne Syndrome: Review of 140 Cases
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Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
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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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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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Retinitis Pigmentosa
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Ocular Complications of Tangier Disease
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Neuro-Ophthalmologic Findings in Vestibulocerebellar Ataxia
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Gerstmann-Straussler-Scheinker Disease with Coincidental Familial Onset
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Two Cases of Van Buchem's Disease
JNNP 45:913-918, Dixon,J.M.,et al, 1982
Optic Neuritis in Familial MS
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Leber's Optic Neuropathy
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Pseudoxanthoma Elasticum:A Review of Neurological Complications
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The Cherry-red Spot-Myoclonus Syndrome
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Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
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CT Scanning & Diagnosis of Adrenoleukodystrophy
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