The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
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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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Clinical Manifestations of the anti-IgLON5 Disease
Neurol 88:1736-1743,1688, Gaig, C.,et al, 2017
Precipitous Deterioration of Motor Function, Cognition, and Behavior
JAMA Neurol 74:591-596, Fernandez-Fournier, M.,et al, 2017
Advances in Progressive Supranuclear Palsy: New Diagnostic Criteria, Biomarkers, and Therapeutic Approaches
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Criteria for the Diagnosis of Corticobasal Degeneration
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The Autosomal Recessive Cerebellar Ataxias
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Ophthalmologic Features of Parkinson's Disease
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Spinocerebellar Ataxia Type 6, Frequency of the Mutation & Genotype-Phenotype Correl
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Familial Hemiplegic Migraine, Nystagmus and Cerebellar Atrophy
Ann Neurol 39:100-106, Elliott,M.A.,et al, 1996
Eye Movements in Parkinsonian Syndromes:Vidailhet
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Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992
Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
Neurol 41:429-433, Baloh,R.W.&Winder,A., 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
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Familial Visceral Myopathy (Oculogastrointestinal Muscular Dystrophy) , Case 12-1990, NEJM 322:829-8, 1, 19, 1990
Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990
The Clinical Features & Natural History of the Steele-Richardson-Olszewski Syndrome (Prog Supranuclear Palsy)
Neurol 36:1005-1006, Maher,E.R.,et al, 1986
Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
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Neuro-Ophthalmologic Findings in Vestibulocerebellar Ataxia
Arch Neurol 43:1050-1053, Farris,B.K.,et al, 1986
Progressive Supranuclear Palsy:Clinical Features & Response to Treatment in 16 Patients
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Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983
Oculomotor Abnormalities in Parkinson's Disease
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Ocular Motor Abnormalities in Hereditary Cerebellar Ataxia
Brain 99:207-234, Zee,D.S.,et al, 1976
Progressive Supranuclear Palsy-Case Study
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Oculogyric Crisis
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