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Diagnosis and Misdiagnosis of Adult Neuronal Ceroid Lipofuscinosis
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Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
JIEMS 4:1-5, Politeri,J.M.,et al, 2016
Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
Neurol 71:925-929, Van Gerpen,J.A.,et al, 2008
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Clinicopatholigical Conference, Plasmodium Falciparum Malaria
NEJM 309:549-556, Case 4-2024, 2024
Fluorodeoxyglucose PET/CT as Possible Early Diagnostic Tool Preceding MRI Changes in Borna Disease Virus 1 Encephalitis
Lancet 403:665-666, Bayas, A., et al, 2024
Diagnosis and Management of ANCA-Associated Vasculitis
Lancet 403:683-698, Kronbichler, A., et al, 2024
Primary Central Nervous System Lymphoma:Clinical Features, Diagnosis, and Extent of Disease Evaluation
www.UptoDate.com, Jan, Nayak,L & Batchelor,T., 2024
Autoimmune Encephalitis Misdiagnosis in Adults
JAMA Neurol 80:30-39, Flanagan,E.P.,et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023
Monkeypox-Associated Central Nervous System Disease:A Case Series and Review
Ann Neurol 93:893-905, Money,K.M.,et al, 2023
Clinical Features and Diagnosis of Intramedullary Spinal Cord Abscess in Adults, A Systematic Review
Neurol 101:e836-e844, Harrold,G.K.,et al, 2023
A 67-YEar-Old Man with Multiple Intracranial Lesions
Neurol 101:e845-e851, Ngo,A.,et al, 2023
Polymyalgia Rheumatica
Lancet 402:1459-1472, Espigol-Frigole,G.,et al, 2023
Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023
Evaluation of Revised Classification Criteria for Giant Cell Arteritis and Its Clinical Phenotypes
Rheumatology (Oxford), 61:383-387, Wiberg,F.,et al, 2022
Laboratory Diagnosis of Creutzfeldt-Jakob Disease
NEJM 386:1345-1350, Zerr, I., 2022
Biopsy Negative Giant Cell Arteritis - Revised Diagnostic Criteria
J Stroke Cerebrovasc Dis 31:106660, Finelli, P.F., 2022
FDG-PET/CT of Giant Cell Arteritis with Normal Inflammatory Markers
Ann Neurol 92:337-339, Koizumi, N.,et al, 2022
Neuromyelitis Optica Spectrum Disorder
NEJM 387:631-639, Wingerchuk, D.M. & Lucchinetti, C.F., 2022
Clinical Manifestation,Management,and Outcomes in Patients with COVID-19 Vaccine-Induced Acute Encephalitis:Two Case Reports and a Literature Review
Vaccines 10:1230, Shyu,S.,et al, 2022
Paraneoplastic Myeloneuropathies
Neurol 96:e632-e639, Shah, S.,et al, 2021
HIV Infection - Screening, Diagnosis, and Treatment
NEJM 384:2131-2143, Saag, M.S., 2021
A 47-Year-Old With Headache, Vertigo, and Double Vision
Neurol 97:e535-e539, Frey, J.,et al, 2021
Chronic Meningitis
NEJM 385:930-936, Aksamit, A.J., 2021
Single Photon Emission Computed Tomography/Positron Emission Tomography Molecular Imaging for Parkinsonism: A Fast-Developing Field
Ann Neurol 90:711-719, Verger, A.,et al, 2021
Autoimmune Encephalitis Related to Cancer Treatment with Immune Checkpoint Inhibitors
Neurol 97:e191-e202, Nersesjan, V.,et al, 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
The Tolosa-Hunt Syndrome
NJJP 71:577-582, Kline,L.B. & Hoyt,W.F., 2021
Brainstem Encephalitis. The Role of Imaging in Diagnosis
Curr Prob Diag Radiol 50:946-960, Sotoudeh,H.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Primary Angiitis of the CNS Presenting with Recurrent Intracranial Hemorrhage
Neurol 94:e992-e995, Rice, J.,et al, 2020
Native-Valve Infective Endocarditis
NEJM 383:567-576, Chambers, H.F. & Bayer, A.S., 2020
Polymyalgia Rheumatica and Giant Cell Arteritis
JAMA 324:993-994, Buttgereit, F.,et al, 2020
Sensory Ganglionopathy
NEJM 383:1657-1662, Amato, A.A. & Ropper, A.H., 2020
Central Nervous System Involvement in Erdheim-Chester Disease
Neurol 95:e2746-e2754, Aubart,F.C.,et al, 2020
Imaging Review of Paraneoplastic Neurologic Syndromes
AJNR 41:2176-2187, Madhavan, A.A.,et al, 2020
Vessel Wall MR Imaging for the Detection of Intracranial Inflammatory Vasculopathies
Cardiovasc Diagn Ther 10:1108-1119, Edjlali,M.,et al, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
Acute Encephalitis in Immunocompetent Adults
Lancet 393:702-716, Venkatesan, A.,et al, 2019