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Acquired Ocular Visual Impairment in Children, 1960-1989
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Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
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Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
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The Diagnosis of Neurofibromatosis-1 in the Child Under the Age of 6 Years
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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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
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023
Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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The Phenotypic Continuum of ATP1A3-Related Disorders
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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 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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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, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
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Neurofibromatosis Type 2
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The Tuberous Sclerosis Complex
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Mucolipidosis Type IV; Characteristic MRI Findings
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
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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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Molecular Genetics in Neurology
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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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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Cockayne Syndrome: Review of 140 Cases
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Central Nervous System Involvement in Von Hippel-Lindau Disease
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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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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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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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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
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