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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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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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Refsum Disease
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Follow-up and Diagnostic Reappraisal of 75 Patients with Leber's Congenital Amaurosis
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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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Leber's Congenital Amaurosis
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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Marfan Syndrome
NEJM 300:772-777, Pyeritz,R.E.,et al, 1979
Gyrate Atrophy of the Choroid & Retina with Hyperornithinemia:Tubular Aggreg. & Type 2 Fiber Atrophy
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Leigh's Disease in an Adult with Evidence of"Inhibitor Factor"in Family Members
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Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
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Dominant Juvenile Optic Atrophy
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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
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Bilateral Hearing Loss and Constricted Visual Fields
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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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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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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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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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Neurologic Manifestations of von Hippel-Lindau Disease
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Metabolic Disease and Stroke: MELAS
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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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Hypertrophic Cardiomyopathy A Systematic Review
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Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Clinical Significance of Fetal Choroid Plexus Cysts
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
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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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Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
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Cockayne Syndrome: Review of 140 Cases
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Acute Intermittent Porphyria
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Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Mitochondrial DNA and Genetic Disease
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