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The Phenotypic Continuum of ATP1A3-Related Disorders
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Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Dopa-Responsive Dystonia Revisited
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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Diagnostic Criteria for Dystonia in DYT1 Families
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Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Current and Emerging Issues in Wilsons Disease
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A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
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Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Criteria for the Diagnosis of Corticobasal Degeneration
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Risk Factors for Spinal Cord Lesions in Dystonic Cerebral Palsy and Generalised Dystonia
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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
Sjogren Syndrome: Neurologic Complications
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Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Progressive Supranuclear Palsy: A Current Review
The Neurologist 14:79-88, Lubarsky,M. &Juncos,J.L., 2008
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
Tardive Dyskinesia:Diagnosis, Pathogenesis, and Management
The Neurologist 4:180-187, Trugman,J.M., 1998
Dystonia and Chorea in Acquired Systemic Disorders
JNNP 65:436-445, Janavs,J.L.&Aminoff,M.J., 1998
Accuracy of the Clinical Diagnosis of Corticobasal Degeneration:A clinicopathologic Study
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
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
Wilson's Disease:The Problem of Delayed Diagnosis
JNNP 55:692-696, Walshe,J.M.&Yealland,M., 1992
The Sit-up Test:An Alternative Clinical Test for Evaluating Pediatric Torticollis
Pediatrics 90:612-615, Caputo,A.R.,et al, 1992
Diagnostic Tests for Choreoacanthocytosis
Neurol 41:1000-1006, Feinberg,T.E.,et al, 1991
Clinical Diagnosis of the Dyskinesias
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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A 6-Year-Old Girl with Progressive Toe Walking
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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
Practice Guideline Update Summary: Botulinum Neurotoxin for the Treatment of Blepharospasm, Cervical Dystonia, Adult Spasticity, and Headache
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Autopsy Case of Severe Generalized Dystonia and Static Ataxia with Marked Cerebellar Atrophy
Neurol 85:1522-1524, Miyamoto, R.,et al, 2015
Deep-Brain Stimulation - Entering the Era of Human Neural-Network Modulation
NEJM 371:1369-1373, Okun, M.S., 2014
Degenerative Diseases of the Nervous System, Dystonia Musculorum Deformans
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Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
High Doses of Deferiprone May Be Associated with Cerebellar Syndrome
BMJ 338:653, Beau-Salinas,F.,et al, 2009
Deep Brain Stimulation for Primary Generalized Dystonia: Long-Term Outcomes
Arch Neurol 66:465-470, Isaias,I.U.,et al, 2009
Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
Ann Neurol 66:11-18,1, Florance,N.R.,et al, 2009
Acute Deep-Brain Stimulation of the Internal and External Globus Pallidus in Primary Dystonia: Functional Mapping of the Pallidum
Arch Neurol 64:1281-1286, Houeto,J.-L.,et al, 2007
Familial Dopa-Responsive Cervical Dystonia
Neurol 66:599-601, Schneider,S.A.,et al, 2006
Dopa-responsive Dystonic Camptocormia
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