Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Miller Fisher Syndrome and Acute Motor and Sensory Axonal Neuropathy (AMSAN) Variant Guillain-Barre Overlap Syndrome (MFS/AMSAN-GBS) After Upper Respiratory Tract Infection (URTI)
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Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
A 54-year-old woman with Dementia, Myoclonus, and Ataxia
Neurol 89:e7-e12, Ali, F.,et al, 2017
The Acquired Metabolic Disorders of the Nervous System, Hashimoto Encephalopathy (Steroid Responsive Encephalopathy Syndrome)
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Creutzfeldt-Jakob Disease (Subacute Spongiform Encephalopathy)
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Heterogeneity of Coenzyme Q10 Deficiency
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Clinicopathologic Conference, Acute Ischemic Stroke due to Basilar Artery Embolism. Patent Foramen Ovale
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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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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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The Neurological Complications of Bariatric Surgery
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Mitochondrial Respiratory-Chain Diseases
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Symmetric Deep Cerebellar Lesions After Smoking Heroin
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Hashimoto's Encephalitis as a Differential Diagnosis of Creutzfeldt-Jakob Disease
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Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998
Opsoclonus
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Diagnostic Guidelines in Central Nervous System Whipple's Disease
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Clinicopath Conf
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Encephalopathy from Abuse of Bismuth Subsalicylate (Popto-Bismol)
Neurol 43:1265, Jungreis,A.C.&Schaumburg,H.H., 1993
Microangiopathy of the Brain, Retina, and Ear:Improvement without Immunosuppressive Therapy
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Sarcoidosis of the Nervous System, A Clinical Approach
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Refsum Disease
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Friedreich Ataxia
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Opsoclunus, Myoclonus, Ataxia & Encephalopathy in Adults with Cancer:A Distinct Paraneoplastic Syndrome
Medicine 67:100-109, Anderson,N.E.,et al, 1988
Brain Metabolism in Mitochondrial Encephalomyopathy:A PET Study
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Kearns-Sayre Syndrome (Oculocraniosomatic Neuromuscular Disease with Mitochondrial Myopathy) , Case, 4-1,NEJM 317:493-501,1987., 1987
Cogan's Syndrome:18 Cases & a Review of the Literature
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A Progressive Syndrome of Autism, Dementia, Ataxia, & Loss of Purposeful Hand Use in Girls:Rett's Syndrome
Ann Neurol 14:471-491, Hagberg,B., 1983
Encephalopathy in Infants & Children With Chronic Renal Disease
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Mitral Valve Prolapse & Ophthalmoplegia:A Progressive, Cardioneurologic Syndrome
Ann Int Med 92:735-741, Darsee,J.R.,et al, 1980
Neurologic Complications After Treatment for Whipple's Disease:A Report of Four Patients
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Adult Toxoplasmosis Presenting as Polymyositis & Cerebellar Ataxia
Ann Int Med 82:367, Greenlee,J.,et al, 1975
Neurotoxicity of Commonly Used Antineoplastic Agents
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Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
An 82-Year-Old Woman with Subacute Ophthalmoparesis and Ataxia
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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A Dizzy Architect
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding
Ann Neurol 87:10-11, Van Samkar, A.,et al, 2020
Palatal Myoclonus, Abnormal Eye Movements, and Olivary Hypertrophy in GAD65-Related Disorder
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
An Adolescent Girl Presenting with Worsening Vertigo, Headache, and Ataxia
Neurol 95:e1760-e1763, Brigham, E.,et al, 2020
Clinicopathologic Conference, Creutzfeldt-Jakob Disease
NEJM 381:1569-1578, Case 32-2019, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
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