A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Huntington Disease: Clinical Features and Diagnosis
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A 56-year-old Man with Cognitive Impairment and Difficulty Tying his Necktie
Neurol 85:e116-e122, Baker, J.M.,et al, 2015
Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,et al, 2013
Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
NEJM 362:2213-2219, Case 17-2010, 2010
Sjogren Syndrome: Neurologic Complications
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Aicardi-Gouti�res Syndrome
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Progressive Supranuclear Palsy: A Current Review
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Clinical Presentation and Pharmacological Therapy in Corticobasal Degeneration
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Accuracy of the Clinical Diagnosis of Corticobasal Degeneration:A clinicopathologic Study
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Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Diagnostic Tests for Choreoacanthocytosis
Neurol 41:1000-1006, Feinberg,T.E.,et al, 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Cortical-Basal Ganglionic Degeneration
Neurol 40:1203-1212, Riley,D.E.,et al, 1990
Dystonia and Tremor Induced by Peripheral Trauma:Predisposing Factors
JNNP 51:1512-1519, Jankovic,J.&VanDer Linden,C., 1988
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
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Autosomal Dominant System Degeneration in Portugese Families of the Azores Islands
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Corticodentatonigral Degeneration with Neuronal Achromasia
Arch Neurol 18:20-33, Rebeiz,J.J.,et al, 1968
Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
Neurol 101:e1884-e1892, van der Veen,S.,et al, 2023
Choreoathetosis and Focal Dystonia in Vitamin B12 Deficiency
Neurol 97:e1545, Ng, C.F.,et al, 2021
A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
Ann Neurol 88:637-638, Wu, H.,et al, 2020
A Middle-Aged Man with New Onset Seizures and Myoclonic Jerks
Neurol 92:e274-e281, Chen, Z. & Neo, S., 2019
Recurrent Involuntary Contractions of the Face, Arm, and Leg in an Elderly Man
JAMA Neurol 76:728-729, Kim, D.D.,et al, 2019
IgLON5-mediated neurodegeneration is a differential diagnosis of CNS Whipple disease
Neurol 90:1113-1115, Morales-Briceno, H.,et al, 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
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
Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
JAMA Neurol 73:888-890, Kawarai, T.,et al, 2016
Autopsy Case of Severe Generalized Dystonia and Static Ataxia with Marked Cerebellar Atrophy
Neurol 85:1522-1524, Miyamoto, R.,et al, 2015
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Encephalitis Lethargica (non Economo Disease, sleeping sickness)
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Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
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Bilirubin-Induced Neurologic Damage - Mechanisms and Management Approaches
NEJM 369:2021-2030, Watchko, J.F.,et al, 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
Movement Disorders Emergencies Part 2 Hyperkinetic Disorders
Arch Neurol 68:719-724, Robottom, B.J.,et al, 2011
Rapidly Progressive Corticobasal Degeneration Syndrome
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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
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Huntingtons Disease
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Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
Ann Neurol 66:11-18,1, Florance,N.R.,et al, 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
Neurol 62:87-90, Basel-Vanagaite,L.,et al, 2004
Post-Stroke Movement Disorders; Report of 56 Patients
JNNP 75:1568-1574, Alarcon,F.,et al, 2004
HIV-Related Movement Disorders, Epidemiology, Pathogenesis and Management
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