A 60-Year-Old Man with Weakness and Gait Dysfunction
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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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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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Niemann-Pick Disease Type C: Two Cases and an Update
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Mucolipidosis Type IV; Characteristic MRI Findings
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Niemann-Pick Disease Type C from Bench to Bedside
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Clinical, Neuropath & Genetic Studies of Large Spinocerebellar Ataxia Type 1 (SCA1) Kindred: (CAG) n Early Premonitory Signs & Symp
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
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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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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Fucosidosis Revisited:A Review of 77 Patients
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
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Neurological Manifestations in Xeroderma Pigmentosum
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Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
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Olivopontocerebellar Atrophy with Dementia, Blindness, & Chorea, Response to Baclofen
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Clinical Findings in Four Children with Biotinidase Deficiency Detected Through a Statewide Neonatal Screening Program
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Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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Dominant Spinopontine Atrophy
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Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
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Neurological Manifestations of Fabry Disease in Female Carriers
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