A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Complex Ataxia
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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An Unusual Fundus Finding in a Teenage Girl
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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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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Mitochondrial DNA Polymerase-y and Human Disease
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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
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Recessive Ataxia With Ocular Apraxia
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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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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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
Neurol 42:312-319, Manetto,V.,et al, 1992
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Phytanic Acid Storage Disease:Hearing Maintained After 15 Years of Dietary Treatment
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Myeloneuropathy & Macrocytosis Associated with Nitrous Oxide Abuse
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Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
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A Family with Hereditary Ataxia:HLA Typing
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Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
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Dominant Spinopontine Atrophy
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Nerve-Growth Factor in Familial Dysautonomia
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Neurotoxicity of Commonly Used Antineoplastic Agents
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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Clinicopathological Conference, Powasan Virus Encephalitis
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