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Laboratory Diagnosis of Creutzfeldt-Jakob Disease
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples
JAMA Neurol 74:155-162,144, Bongianni, M.,et al, 2017
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Diagnosing variant Creutzfeldt-Jakob disease: a retrospective analysis of the first 150 cases in the UK
JNNP 82:646-651, Heath, C.A.,et al, 2011
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
Rapidly Progressive Dementia
Ann Neurol 64:97-108, Geschwind,M.D.,et al., 2008
MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
AJNR 29:1638-1643, Fulbright,R.K.,et al, 2008
Neuroimaging Findings in Human Prion Disease
JNNP 78:664-670, Macfarlane,R.G.,et al, 2007
Early Clinical Signs and Imaging Findings in Gerstmann-Straussler-Scheinker Syndrome (Pro102Leu)
Neurol 66:1672-1678, Arata,H.,et al, 2006
Clinical Presentation and Pre-Mortem Diagnosis of Variant Creutzfeldt-Jakob Disease Associated With Blood Transfusion: A Case Report
Lancet 368:2061-2067, Wroe,S.J.,et al, 2006
Prion Deposition in Olfactory Biopsy of Sporadic Creutzfeldt-Jakob Disease
Ann Neurol 55:294-296, Tabaton,M.,et al, 2004
Detection of Pathologic Prion Protein in the Olfactory Epithelium in Sporadic Creutzfeldt-Jakob Disease
NEJM 348:711-719,681, Zanusso,G.,et al, 2003
Diffusion-Weighted Imaging Discriminates Progressive Supranuclear Palsy from PD, But Not From the Parkinson Variant of Multiple System Atrophy
Neurol 60:922-927, Seppi,K.,et al, 2003
Antimyelin Antibodies as a Predictor of Clinically Definite Multiple Sclerosis After a First Demyelinating Event
NEJM 349:139-145,107, Berger,T.,et al, 2003
14-3-3 Testing in Diagnosing Creutzfeldt-Jakob Disease
Neurol 55:514-516, Lemstra,A.W. et al, 2000
Investigation of Variant Creutzfeldt-Jakob Disease and Other Human Prion Diseases with Tonsil Biopsy Samples
Lancet 353:183-189,163, Hill,A.F.,et al, 1999
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
New Variant Creutzfeldt-Jakob Disease:Neurological Features and Diagnostic Tests
Lancet 350:903-907, Zeidler,M.,et al, 1997
Diagnostic Criteria for Sporadic Creutzfeldt-Jakob Disease
Arch Neurol 53:913-920, Kretzschmar,H.A.,et al, 1996
The 14-3-3 Brain Protein in Cerebrospinal Fluid as a Marker for Transmissible Spongiform Encephalopathies
NEJM 335:924-930, 9631996., Hsich,G.,et al, 1996
Diagnosis of Creutzfeldt-Jakob Disease in Two-Dimensional Gel Electrophoresis of Cerebrospinal Fluid
Lancet 348:846-849, Zerr,I.,et al, 1996
Human Prion Diseases
Ann Neurol 35:385-395, Prusiner,S.B.&Hsiao,K.K., 1994
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
Stroke 57:148-156, Mania-Paris,L.,et al, 2026
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Polymyalgia Rheumatica
NEJM 394:1097-1109, Dejaco,C.,et al, 2026
Frequency of AQP4 and MOG Antibodies in Patients with Optic Neuritis Fulfilling Minimal New Multiple Sclerosis MRI Criteria
Neurol 106:e214753, Deschamps,R.,et al, 2026
Diagnostic Value of the Kappa Free light Chain Index to Distinguish MOGAD, NMOSD, and MS
Neurol 106:e214946, Tournier,A.,et al, 2026
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NEJM 394:1836-1845, Greenberg,S.M., 2026
Next-Day Serum Glial Fibrillary Acidic Protein Levels to Aid Diagnosis of Sport-Related Concussion
Neurol 104:e210308, OBrien,W.T.,et al, 2025
A 26-Year-OldWoman with Headache and Eosinophilia
Neurol 104:e213434, Goh,W.G.W.,et al, 2025
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Rapid Diagnosis of Intracerebral Hemorrhage in Patients with Acute Stroke by Measuring Prehospital GFAP Levels on a Point-of-Care Device (DETECT)
Neurol 105: e213823, Kalra,L-P.,et al, 2025
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
Neurol 105:213101, Soontrapa,P.,et al, 2025
A 30-Year-Old Female Patient with Multiple Sclerosis Presenting with Rapidly Progressive Cranial Neuropathies, Weakness, and Ataxia
Neurol 105:e214429, Trentadue,T.,et al, 2025
Myelin Oligodendrocyte Glycoprotein Antibody - Associated Cerebral Cortical Encephalitis: A Case Report Highlighting Diagnostic Challenges and Therapeutic Implications
Front Immunol 16:1619807, Liu,M. & Li, D., 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Magnetic Resonance Imaging Characteristics of LGl1-Antibody and CASPR2-Antibody Encephalitis
JAMA Neurol 81:525-533, Kelly,Mark J., et al, 2024
Validation of the 2023 International Diagnostic Criteria for MOGAD in a Selected Cohort of Adults and Children
Neurol 103:e209321, Varley,J.A.,et al, 2024
Glial Fibrillary Acidic Protein Astrocytopathy:Review of Pathogenesis, Imaging Features, and Radiographic Mimics
AJNR 45:1394-1402, Shetty,D.,et al, 2024
Slowly Expanding Lesions Differentiate Pediatric Multiple Sclerosis from Myelin Oligodendrocyte Glycoprotein Antibody Disease
Ann Neurol 96:1086-1091, Fadda,G.,et al, 2024
Genome Sequencing in the NICU and PICU is Here to Stay
Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024