The Phenotypic Continuum of ATP1A3-Related Disorders
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
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Hereditary Dentatorubral-Pallidoluysian Atrophy:Clinical and Pathologic Variants in a Family
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Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
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Juvenile Neuroaxonal Dystrophy:Clinical, Electrophysiological, & Neuropathological Features
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Neurotoxicity of Commonly Used Antineoplastic Agents
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Genetic Counseling in Retinitis Pigmentosa
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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
Neurol 105:e213993, Shen,F.,et al, 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 2024
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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Complex Ataxia
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A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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Clinicopathologic Conference, Creutzfeldt-Jakob Disease
NEJM 381:1569-1578, Case 32-2019, 2019
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
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Cerebellar Ataxia and Hearing Impairment
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
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A 54-year-old woman with Dementia, Myoclonus, and Ataxia
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Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Antibiotic-Associated Encephalopathy
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SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases
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Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Creutzfeldt-Jakob Disease (Subacute Spongiform Encephalopathy)
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Gertsmann-Straussler Schneinker Syndrome
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Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Whipple Disease
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Degenerative Diseases of the Nervous System, Multiple System Atrophy
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Degenerative Diseases of the Nervous System, Cerebellar Degeneration
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The Autosomal Recessive Cerebellar Ataxias
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Central Nervous System Neuronal Surface Antibody Associated Syndromes: Review and Guidelines for Recognition
JNNP 83:638-645, Zuliani,L.,et al, 2012
Heterogeneity of Coenzyme Q10 Deficiency
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Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
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Epstein-Barr Virus Infections of the Nervous System
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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The Hot Cross Bun Sign in the Patients with Spinocerebellar Ataxia
Eur J Neurol 16:513-516, Lee, Y.-C.,et al, 2009
Spectrum of Neurological Syndromes Associated with Glutamic Acid Decarboxylase Antibodes: Diagnostic Clues for this Association
Brain 131:2553-2563, Saiz,A., et al, 2008
Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype
Neurol 67:859-863, Rauschka,H.,et al, 2006
Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
NEJM 352:1985-1991, Ramaekers,V.T.,et al, 2005