Niemann-Pick Type C Disease
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Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
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Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Functional Gait Disorders
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Neurodegeneration with Brain Iron Accumulation
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Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
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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
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Criteria for the Diagnosis of Corticobasal Degeneration
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Dopa-Responsive Dystonia Revisited
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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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Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Progressive Supranuclear Palsy: A Current Review
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Diagnostic Criteria for Dystonia in DYT1 Families
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The DYT1 Phenotype and Guidelines for Diagnostic Testing
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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
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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
Neurol 48:119-125, Litvan,I.,et al, 1997
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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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
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Diagnostic Tests for Choreoacanthocytosis
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Adults with Cerebral Palsy Require Ongoing Neurologic Care
Ann Neurol 89:860-871, Smith, S.E.,et al, 2021
Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease
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Clinicopathologic Conference, LGI1 autoimmune encephalitis
NEJM 382:1943-1950, Case 15-2020, 2020
A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
Ann Neurol 88:637-638, Wu, H.,et al, 2020
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
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Long-Term Improvement of Musicians Dystonia after Stereotactic Ventro-Oral Thalamotomy
Ann Neurol 74:648-654,627, Horisawa, S.,et al, 2013
Risk Factors for Spinal Cord Lesions in Dystonic Cerebral Palsy and Generalised Dystonia
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Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
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Deep Brain Stimulation
JAMA 305:732, Pluta,R.,et al, 2011
Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
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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Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
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Long-term Outcome of Bilateal Pallidal Deep Brain Stimulation for Primary Cervical Dystonia
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Long-Term Outcome of Bilateral Pallidal Deep Brain Stimulation for Primary Cervical Dystonia
Neurol 68:457-459, Hung,S.W.,et al, 2007
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
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