A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Choreoathetosis and Focal Dystonia in Vitamin B12 Deficiency
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Huntington Disease: Clinical Features and Diagnosis
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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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
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Accuracy of the Clinical Diagnosis of Corticobasal Degeneration:A clinicopathologic Study
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Wilson Disease
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Coma Assoc with Bursts of Abnor Movements & Cognitive Disturb:Acute Encephalopathy of Obscure Origin
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Alternating Hemiplegia of Childhood
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Corticodentatonigral Degeneration with Neuronal Achromasia
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Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
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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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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
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
A 56-year-old Man with Cognitive Impairment and Difficulty Tying his Necktie
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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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Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
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Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
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Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,et al, 2013
Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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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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Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
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Huntingtons Disease
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Sjogren Syndrome: Neurologic Complications
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Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
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Vigabatrin Improves Paroxysmal Dystonia in Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 68:1320-1321, Leuzzi,V.,et al, 2007
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
Post-Stroke Movement Disorders; Report of 56 Patients
JNNP 75:1568-1574, Alarcon,F.,et al, 2004
Mental Retardation
Neurol 61:156-157, Patterson,M.C. &Zoghbi,H.Y., 2003
Reversible Chorea and Focal Dystonia in Vitamin B12 Deficiency
NEJM 347:295, Pacchetti,C.,et al, 2002
HIV-Related Movement Disorders, Epidemiology, Pathogenesis and Management
CNS Drugs 16:663-668, Cardoso,F., 2002
Uses of Botulinum Toxin Injection in Medicine Today
BMJ 320:161-165, Munchau,A. & Bhatia,K.P., 2000
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
Familial Paroxysmal Dystonic Choreoathetosis,Clinical Findings in a Large Japanese Family and Genetic Linkage to 2q
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