Niemann-Pick Disease Type C
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Niemann-Pick Type C Disease
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Post-Streptococcal Autoimmune Disorders of the Central Nervous System
Curr Opin Neurol 16:359-365, Snider,L. &Swedo,S., 2003
Drug-Induced Pisa Syndrome (Pleurothotomus)
CNS Drugs 10:166-174, Suzuki, T. & Matsuzaka, H., 2002
Posterior Cerebral Artery Syndromes
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Delayed-Onset Progressive Movement Disorders after Static Brain Lesions
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Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Delayed Dystonia with Striatal CT Lucencies Induced by a Mycotoxin (3-Nitropropionic Acid)
Neurol 45:2178-2183, He,F.,et al, 1995
Alternating Hemiplegia of Childhood:A Study of 10 Pts & Results of Flunarizine Treatment
Neurol 43:36-41, Silver,K.&Andermann,F., 1993
Progressive Dyskinesia Due to Internal Cerebral Vein Thrombosis
Neurol 32:769-772, Solomon,G.E.,et al, 1982
Delayed-onset Dystonia in Patients with"Static"Encephalopathy
JNNP 43:789-797, Burke,R.E.,et al, 1980
Alternating Hemiplegia in Infants:Report of Five Cases
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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
Torticollis in a Child with Otalgia
BMJ 378:e070608, Sarathi, C.I.P.,et al, 2022
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Adults with Cerebral Palsy Require Ongoing Neurologic Care
Ann Neurol 89:860-871, Smith, S.E.,et al, 2021
A Middle-Aged Man with New Onset Seizures and Myoclonic Jerks
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Treatable Bilateral Striatal Lesions Related to Anti-Dopamine 2 Receptor
Neurol 91:98-101, Marques-Matos, C.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
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Huntington Disease: Clinical Features and Diagnosis
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Practice Guideline Update Summary: Botulinum Neurotoxin for the Treatment of Blepharospasm, Cervical Dystonia, Adult Spasticity, and Headache
Neurol 86:1818-1826, Simpson, D.M.,et al, 2016
Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
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
Parkin Disease
JAMA Neurol 70:571-579, Doherty, K.,et al, 2013
Bilirubin-Induced Neurologic Damage - Mechanisms and Management Approaches
NEJM 369:2021-2030, Watchko, J.F.,et al, 2013
Risk Factors for Spinal Cord Lesions in Dystonic Cerebral Palsy and Generalised Dystonia
JNNP 83:159-163, Guettard,E.,et al, 2012
Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
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Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
Movement Disorders Emergencies Part 2 Hyperkinetic Disorders
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Anti-N-Methyl-d-Aspartate Receptor Encephalitis: Characteristic Behavioral and Movement Disorder
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MRI in Methylmalonic Acidemia
Neurol 74:e14, Bindu, P.S.,et al, 2010
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
Pneumonias Link With the Head and Neck
Lancet 376:388, Mariotti,P., et al, 2010
Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
NEJM 362:2213-2219, Case 17-2010, 2010
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Sjogren Syndrome: Neurologic Complications
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Long-Term Effects of Pallidal Deep Brain Stimulation in Tradive Dystonia
Neurol 73:53-58, Gruber,D.,et al, 2009
Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
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N-Methyl-D-Aspartate Receptor Antibodies in Pediatric Dyskinetic Encephalitis Lethargica
Ann Neurol 66:704-709, Dale,R.,et al, 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Poststreptococcal Dystonia With Bilateral Striatal Enlargement: MR Imaging and Spectroscopic Findings
AJNR 29:1276-1278, Kendi,A.T.K.,et al., 2008
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007