Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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Slater Revisited:6 Year Follow Up Study of Pts with Medically Unexplained Motor Symptoms
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A 6-Year-Old Girl with Progressive Toe Walking
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A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
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Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease
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Functional Gait Disorders
Neurol 94:1093-1099, Nonnekes, J.,et al, 2020
IgLON5-mediated neurodegeneration is a differential diagnosis of CNS Whipple disease
Neurol 90:1113-1115, Morales-Briceno, H.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
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Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
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A Demure Teenager and Her Dystonic Foot
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Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
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Autopsy Case of Severe Generalized Dystonia and Static Ataxia with Marked Cerebellar Atrophy
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Degenerative Diseases of the Nervous System, Progressive Supranuclear Palsy
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Criteria for the Diagnosis of Corticobasal Degeneration
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Risk Factors for Spinal Cord Lesions in Dystonic Cerebral Palsy and Generalised Dystonia
JNNP 83:159-163, Guettard,E.,et al, 2012
Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
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Rapidly Progressive Corticobasal Degeneration Syndrome
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Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
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High Doses of Deferiprone May Be Associated with Cerebellar Syndrome
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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Progressive Supranuclear Palsy: A Current Review
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Dopamine-Responsive 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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Familial Paroxysmal Dystonic Choreoathetosis,Clinical Findings in a Large Japanese Family and Genetic Linkage to 2q
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Clinical Presentation and Pharmacological Therapy in Corticobasal Degeneration
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Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
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Accuracy of the Clinical Diagnosis of Corticobasal Degeneration:A clinicopathologic Study
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Niemann-Pick Disease Type C from Bench to Bedside
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Mitochondrial DNA and Disease
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Paroxysmal Dyskinesias:Clinical Features and Classification
Ann Neurol 38:571-579, Demirkiran,M.&Jankovic,J., 1995
Alternating Hemiplegia of Childhood:A Study of 10 Pts & Results of Flunarizine Treatment
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Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
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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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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Extrapyramidal Involvement in Rett's Syndrome
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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
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Transient Paroxysmal Dystonia in Infancy
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