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Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,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
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Neurodegeneration with Brain Iron Accumulation
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017
Huntington Disease: Clinical Features and Diagnosis
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Advances in Progressive Supranuclear Palsy: New Diagnostic Criteria, Biomarkers, and Therapeutic Approaches
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Encephalitis Lethargica (non Economo Disease, sleeping sickness)
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Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Whipple Disease
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Central Nervous System Involvement in Whipple Disease
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Huntingtons Disease
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Hemichorea-Hemiballism after Diabetic Ketoacidosis
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Diabetic Striatal Disease: Clinical Presentation, Neuroimaging, and Pathology
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Bilateral Basal Ganglia Lesions in Patients with End-Stage Diabetic Nephropathy
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The Syndrome of Bilateral Basal Ganglia Lesions in Diabetic Uremic Patients Presenting with a Relapsing and Remitting Course: A Case Report
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Posterior Cerebral Artery Syndromes
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Delayed-Onset Progressive Movement Disorders after Static Brain Lesions
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Oculo-Facial-Skeletal Myorhythmia in Whipple Disease:Treatment with Ceftriazone
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Movement Disorder of Premature Infants with Severe Bronchopulmonary Dysplasia:A New Syndrome
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Delayed-onset Dystonia in Patients with"Static"Encephalopathy
JNNP 43:789-797, Burke,R.E.,et al, 1980
Normocalcemic Tetany
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Neurologic Manifestations of SLE 1972
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Enlargement of the Sylvian Aqueduct:A Sequel of Head Injuries
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Corticodentatonigral Degeneration with Neuronal Achromasia
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