Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Psychiatric Disorders in Preclinical Huntingtons Disease
JNNP 78:939-943, Julien,C.L.,et al, 2007
Psychiatric Symptoms Do Not Correlate with Cognitive Decline, Motor Sympt or CAG Repeat Length in Huntington's
Arch Neurol 53:493-497, Zappacosta,B.,et al, 1996
Huntington's Chorea
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Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
Ann Neurol 66:11-18,1, Florance,N.R.,et al, 2009
N-Methyl-D-Aspartate Receptor Antibodies in Pediatric Dyskinetic Encephalitis Lethargica
Ann Neurol 66:704-709, Dale,R.,et al, 2009
The Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infection (PANDAS) Etiology for Tics and Obsessive-Compulsive Symptoms: Hypothesis or Entity? Practical Considerations for the Clinician
Pediatrics 113:883-886, Kurlan,R. &Kaplan,E., 2004
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025
Paraneoplastic Calmodulin Kinase-Like Vesicle-Associated Protein (CAMKV) Autoimmune Encephalitis
Ann Neurol 96:21-33, Gilligan,M.,et al, 2024
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
A 55-Year-Odd Man with Old Behavior and Abnormal Movements
Neurol 97:1090-1093, McIntosh, P. & Scott, B., 2021
CASPR2 Autoimmunity in Children Expanding to Mild Encephalopathy with Hypertension
Neurol 94:e2290-e2301,953, Syrbe, S.,et al, 2020
A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
Ann Neurol 88:637-638, Wu, H.,et al, 2020
Childhood Primary Angiitis of the Central Nervous System
www.UptoDate.com, Dec, Twilt, M. & Benseler, S., 2019
Sydenham Chorea
www.UptoDate.com, Oct, Gilbert, D.L., 2019
Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,et al, 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014
Clinicopathologic Conferences, Celiac Disease, Addisons Disease, and Major Depression Disorder
NEJM 368:2015-2024, Case 16-2013, 2013
Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
Neurol 78:e72-e76, Blackburn,J.S. and Cirillo,M.L., 2012
Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
Neurol 78:1560-1567,1546, Wijburg, F.A.,et al, 2012
Morvan Syndrome: Clinical and Serological Observations in 29 Cases
Ann Neurol 72:241-255, Irani, S.R.,et al, 2012
The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
Stroke 43:2871-2876, Pescini, F.,et al, 2012
MELAS
MedLink.com, August, Klopstock, T., 2012
The Frequency of Autoimmune N-Methyl-D-Aspartate Receptor Encephalitis Surpasses That of Individual Viral Etiologies in Young Individuals Enrolled in the California Encephalitis Project
Clin Inf Dis 54:899-904, Gable, M.S.,et al, 2012
Late onset autism and anti-NMDA-receptor encephalitis
Lancet 378:98;378, Creten, C.,et al, 2011
Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
The Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infection (PANDAS) Subgroup: Separating Fact From Fiction
Pediatrics 113:907-911, Swedo,S.,et al, 2004
An Organic Cause of Neuropsychiatric Illness in Adolescence
Lancet 361:572, Taylor,S.E.,et al, 2003
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
A New Variant of Creutzfeldt-Jakob Disease in the UK
Lancet 347:921-925, 915, 916, 91796., Will,R.G.,et al, 1996
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Small Infarctions of Cochlear, Retinal, and Encephalic Tissue in Young Women
Stroke 23:903-907, Schwitter,J.,et al, 1992
Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992
Sarcoidosis of the Nervous System, A Clinical Approach
Arch Int Med 151:1317-1321, Sharma,Om.P.&Sharma,A.D., 1991
The Acquired Immunodeficiency Syndrome (AIDS) Dementia Complex
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Non-Convulsive Status Epilepticus
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