A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Degenerative Diseases of the Nervous System, Progressive Supranuclear Palsy
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Degenerative Diseases of the Nervous System, Dystonia Musculorum Deformans
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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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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Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
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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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Pallidal Deep-Brain Stimulation in Primary Generalized or Segmental Dystonia
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Niemann-Pick Disease Type C: Two Cases and an Update
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Niemann-Pick Disease Type C from Bench to Bedside
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Clinicopath Conf
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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Wilson Disease
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Wilson's Disease:The Problem of Delayed Diagnosis
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Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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Delayed Cyanide Induced Dystonia
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
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Blepharospasm & Orofacial-Cervical Dystonia:Clinical & Pharmacological Findings in 100 Patients
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Diagnosis of Treatable Wilson's Disease
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Clinical Aspects of Spasmodic Dysphonia
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Blepharospasm-oromandibular Dystonia Dyndrome (Brueghel's syndrome) :A Variant of Adult-onset Torsion Dystonia
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Progressive Supranuclear Palsy-Case Study
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Corticodentatonigral Degeneration with Neuronal Achromasia
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Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
Neurol 101:e1884-e1892, van der Veen,S.,et al, 2023
A 6-Year-Old Girl with Progressive Toe Walking
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Torticollis in a Child with Otalgia
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Clinical and Structural Findings in Patients with Lesion-Induced Dystonia
Neurol 99:e1957-e1967, Corp, D.T.,et al, 2022
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
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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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Choreoathetosis and Focal Dystonia in Vitamin B12 Deficiency
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Clinical and Radiologic Features of Pedicatric Opioid Use-Associated Neurotoxicity with Cerebellar Edema (POUNCE) Syndrome
Neurol 94:710-712, Kim, D.D. & Prasad, A.N., 2020
Clinicopathologic Conference, LGI1 autoimmune encephalitis
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Functional Gait Disorders
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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
Neurodegeneration with Brain Iron Accumulation
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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