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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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Huntington Disease: Clinical Features and Diagnosis
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Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
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Degenerative Diseases of the Nervous System, Parkinson Disease
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The Limbic-Girdle Muscular Dystrophies
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
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Mitochondrial DNA Polymerase-y and Human Disease
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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Evolution of Sporadic Olivopontocerebellar Atrophy Into Multiple System Atrophy
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Prader-Willi and Angelman Syndromes
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Clinical Usefulness of Magnetic Resonance Imaging in Multiple System Atrophy
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Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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Multiple-System Atrophy is Genet Distinct from Ident Inherited Causes of Spinocerebellar Degen
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Hereditary Spastic Paraplegia:Advances in Genetic Research
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The Inherited Ataxias and the New Genetics
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Trinucleotide Repeat Expansion in Neurological Disease
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Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
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Molecular Genetics in Neurology
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Wilson Disease
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Wilson's Disease:The Problem of Delayed Diagnosis
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Retinitis Pigmentosa
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Neonatal Seizures
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A 67-YEar-Old Man with Multiple Intracranial Lesions
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Current and Emerging Issues in Wilsons Disease
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Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
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Rare Cause of Hemiparesis and Ataxia in a 36-Year-Old Man
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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An 8-Year-Old with Acute Onset Ataxia
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Functional Neurological Disorders
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Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
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A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
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Sturge-Weber Syndrome
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Paraneoplastic Myeloneuropathies
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Clinicopathologic Conference, Normal Pressure Hydrocephalus
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