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The DYT1 Phenotype and Guidelines for Diagnostic Testing
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Mitochondrial DNA and Disease
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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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Functional Gait Disorders
Neurol 94:1093-1099, Nonnekes, J.,et al, 2020
A Middle-Aged Man with New Onset Seizures and Myoclonic Jerks
Neurol 92:e274-e281, Chen, Z. & Neo, S., 2019
Neurodegeneration with Brain Iron Accumulation
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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
Huntington Disease: Clinical Features and Diagnosis
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Deep-Brain Stimulation - Entering the Era of Human Neural-Network Modulation
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Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,et al, 2013
Risk Factors for Spinal Cord Lesions in Dystonic Cerebral Palsy and Generalised Dystonia
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Dopa-Responsive Dystonia Revisited
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Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
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Aicardi-Gouti�res Syndrome
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Progressive Supranuclear Palsy: A Current Review
The Neurologist 14:79-88, Lubarsky,M. &Juncos,J.L., 2008
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
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Diagnostic Criteria for Dystonia in DYT1 Families
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Uses of Botulinum Toxin Injection in Medicine Today
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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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
Posterior Cerebral Artery Syndromes
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Accuracy of the Clinical Diagnosis of Corticobasal Degeneration:A clinicopathologic Study
Neurol 48:119-125, Litvan,I.,et al, 1997
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,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
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
Wilson Disease
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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
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
The Coexistence of Tics and Dystonia
Arch Neurol 48:862-865, Stone,L.A.&Jankovic,J., 1991
Alternating Hemiplegia in Infants:Report of Five Cases
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Autosomal Dominant System Degeneration in Portugese Families of the Azores Islands
Neurol 28:703, Coutinho,P.,et al, 1978
Progressive Supranuclear Palsy-Case Study
NEJM 293:346, Richardson,E.P., 1975
Clinical Diagnosis of the Dyskinesias
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