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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Acquired Ocular Visual Impairment in Children, 1960-1989
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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A Familial Syndrome of Dystonia, Blepharospasm, and Pigmentary Retinopathy
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Olivopontocerebellar Atrophy with Dementia, Blindness, & Chorea, Response to Baclofen
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Tangier Disease (Hypo-a-Lipoproteinemia)
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Phytanic Acid Storage Disease:Hearing Maintained After 15 Years of Dietary Treatment
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Abetalipoproteinemia, Report of Two Cases & Review of Therapy
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Familial Tapetorentinal Degeneration & Epilepsy
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Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
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Genetic Counseling in Retinitis Pigmentosa
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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Mucolipidosis Type IV; Characteristic MRI Findings
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Joubert Syndrome:A Clinico-Radiological Study
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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
NEJM 320:1300-1305, Singh,G.,et al, 1989
Congenital Hydrocephalus & Eye Abnormalities with Severe Developmental Brain Defects:Warburg's Syndrome
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Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
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Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
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Abnormal Iris Vasculature in Myotonic Dystrophy
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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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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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A Neonate with Micrognathia and Hypotonia
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Neurological Management of Von Hippel-Lindau Disease
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A 52-year-old Woman with Progressive Proximal Weakness
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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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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Diagnosis and New Treatments in Muscular Dystrophies
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The Floppy Infant: Evaluation of Hypotonia
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Tuberous Sclerosis
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Neurologic Manifestations of von Hippel-Lindau Disease
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Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
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