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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
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Mitochondrial DNA Polymerase-y and Human Disease
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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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Tourette Syndrome:Update and Review of the Literature
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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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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
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Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
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Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
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Olivopontocerebellar Atrophy with Dementia, Blindness, & Chorea, Response to Baclofen
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Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
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Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
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Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
More Than a Little Unsteady
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Spinal Muscular Atrophy
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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Duchenne Muscular Dystrophy
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Muscular Dystrophies
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Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
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Neuroimaging Changes in Menkes Disease, Part 1
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Bipolar II Disorder as the Initial Presentation of CADASIL:An Underdiagnosed Manifestation
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Hydrocephalus in Children
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Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
JAMA Neurol 73:888-890, Kawarai, T.,et al, 2016
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
A Case of Refractory Nocturnal Seizures
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