A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Niemann-Pick Type C Disease
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
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A Middle-Aged Man with Progressive Gait Abnormalities
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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Huntington Disease: Clinical Features and Diagnosis
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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Whipple Disease
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Subacute Sclerosing Panencephalitis
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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A Genetic Risk Factor for Periodic Limb Movements in Sleep
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Age and High-Dose Methotrexate are Associated to Clinical Acute Encephalopathy in FRALLE 93 Trial for Acute Lymphoblastic Leukemia in Children
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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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Familial Paroxysmal Dystonic Choreoathetosis,Clinical Findings in a Large Japanese Family and Genetic Linkage to 2q
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Slater Revisited:6 Year Follow Up Study of Pts with Medically Unexplained Motor Symptoms
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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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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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
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Huntington's Chorea
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A 69-Year Old Man With Rapid Cognitive Decline and Abnormal Movements
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Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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A 38-Year-Old Man With Involuntary Jerk-Like Movements and Ataxia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Neurologic Manifestations of Hyperthyroidism and Graves Disease
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Clinicopathologic Conference,Limb-Shaking Transient Ischemia Attacks
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Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
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A 37-Year-Old Man with Involuntary Movements, Gait Disturbance, and Hyperasthesia
Neurol 98:851-853, Meng, D.,et al, 2022
A 77-Year-Old Man with Involuntary Movements, Sleep Changes, Falls, Bulbar Symptoms, and Cognitive Complaints
Neurol 99:26-30, Cao, T.Q.,et al, 2022
Functional Neurological Disorders
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A 65-Year-Old Woman with Tremor
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Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease
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A 55-Year-Odd Man with Old Behavior and Abnormal Movements
Neurol 97:1090-1093, McIntosh, P. & Scott, B., 2021
A Rare Presentation of Whipple Disease
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