Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005
Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
Lancet 350:1511-1515, 14901997., Joutel,A.,et al, 1997
Misdiagnosis Revealed by Genetic Linkage Analysis in a Family with Wilson Disease
Neurol 46:1485-1486, Vidaud,D.,et al, 1996
Hereditary Spastic Paraplegia:Advances in Genetic Research
Neurol 46:1507-1514, Fink,J.K.,et al, 1996
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
Neurol 47:1269-1277, Baser,M.E., 1996
A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
J Pediatr 129:611-614, Giangreco,C.A.,et al, 1996
Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
NEJM 328:471-475, Shelbourne,P.,et al, 1993
Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993
Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
Arch Neurol 50:803-806, Klockgether,T.,et al, 1993
The DNA Laboratory and Neurolgoical Practice
JNNP 56:229-233, Harding,A., 1993
Hyperkalemic Periodic Paralysis:Rapid Molecular Diag & Rela of Genotype to Phenotype in 12 Families
Neurol 43:668-673, Feero,W.G.,et al, 1993
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
DNA Diagnosis of Neurofibromatosis 2:Altered Coding Sequence of the Merlin Tumor Suppressor in an Extended Pedigree
JAMA 270:2316-2320, MacCollin,M.,et al, 1993
Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
J Pediatr 120:394-398, Hofman,K.J.&Boehm,C.D., 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
NEJM 325:1673-1681, Rousseau,F.,et al, 1991
Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
NEJM 325:1720-1738, Sutherland,G.R.,et al, 1991
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Patent Foramen Ovale Management for Secondary Stroke Prevention:State-of-the-Art Appraisal of Current Evidence
Stroke 55:236-247, Sposato,L.A.,et al, 2024
Neurological Diagnosis, Artificial Intelligence Compared with Diagnostic Generator
Neurologist doi.10.1097/NR.0000000000000560, Finelli,P.F., 2024
Diagnosis, Workup, Risk Reduction of Transient Ischemic Attack in the Emergency Department Setting:A Scientific Statement From the American HEart Association
Stroke 54:e109-e121, Hardik,P.A.,et al, 2023
Artificial Intelligence and Machine Learning in Clinical Medicine, 2023
NEjM 388:1201-1208,1220, Haug,C.H. & Drazen,J.M., 2023
Accuracy of a Generative Artificial Intelligence Model in a Complex Diagnostic Challenge
JAMA 330:78-79, Kanjee,Z.,et al, 2023
Use of GPT-4 to Diagnose Complex Clinical Cases
NEJM AI doi:10.1056/AIp2300031, Eriksen,A.V.,et al, 2023
Should Electronic Differential Diagnosis Support be Used Early or Late in the Diagnostic Process? A Multicentre Experimental Study of Isabel
BMJ Qual Saf doi:10.1136/bmjqs-2021-013493, Sibbald, M.,et al, 2022
Reaching 95%: Decision Support Tools are the Surest Way to Improve Diagnosis Now
BMJ Qual Saf doi:10.1136/bmjqs-2021-014033, Graber, M.L., 2022
Magnetic Resonance Imaging or Computed Tomography for Suspected Acute Stroke: Association of Admission Image Modality with Acute Recanalization Therapies, Workflow Metrics, and Outcomes
Ann Neurol 92:184-194, Fischer, U.,et al, 2022
Evaluation of Medical Decision Support Systems (DDX Generators) Using Real Medical Cases of Varying Complexity and Origin
BMC Med Inform Dcis Mak 22:254, Fritz,P.,et al, 2022
Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021
Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis
NEJM 385:1220-1229, Case 29-2021, 2021
The First Examination of Diagnostic Performance of Automated Measurement of the Callosal Angle in 1856 Elderly Patients and Volunteers Indicates that 12.4% of Exams Met the Criteria for Possible Normal Pressure Hydrocephalus
AJNR 42:1942-1948, Morzage, M.,et al, 2021
Determination of Brain Death
NEJM 385:2554-2561, Greer, D.M., 2021
Next-Generation Artificial Intelligence for Diagnosis
JAMA doi:10.1001/JAMA/2021.22396, Dec, Adler-Milstein, J.,et al, 2021
Assessing the Utility of a Differential Diagnostic Generator in UK General Practice: A Feasibility Study
Diagnosis 8:91-99, Cheraghi-Sohi, S.,et al, 2021
Differential Diagnosis Checklists Reduce Diagnostic Error Differentially: A Randomised Experiment
Med Educ 55:1172-1182, Kammer, J.E.,et al, 2021
Diagnosis and Treatment of Parkinson Disease
JAMA 323:548-560, Armstrong, M.J. & Okun, M.S., 2020
Pernicious Anaemia
BMJ 369:m1319, Mohamed, M.,et al, 2020
Transient Ischemic Attack
NEJM 382:1933-1941, Amarenco, P., 2020
Olfactory Dysfunction in COVID-19
JAMA doi:10.1001/JAMA.2020.8391, Whitcroft, K.L. & Hummel, T., 2020
Polymyalgia Rheumatica and Giant Cell Arteritis
JAMA 324:993-994, Buttgereit, F.,et al, 2020
Migraine
NEJM 383:1866-1876, Ashina, M., 2020
Acute Encephalitis in Immunocompetent Adults
Lancet 393:702-716, Venkatesan, A.,et al, 2019
Reimagining Specialty Consultation in the Digital Age the Potential Role of Targeted Automatic Electronic Consultations
JAMA doi:10.1001/JAMA.2019.6607, Wachter, R.M.,et al, 2019
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Diagnosing Stroke in Acute Dizziness and Vertigo
Stroke 49:788-795, Saber Tehrani, A.S.,et al, 2018
Toxidrome Recognition in Chemical - Weapons Attacks
NEJM 378:1611-1620, Ciottone, G.R., 2018
A Fatal Case of Undiagnosed Candida Meningitis-Role of Computer-assisted Diagnosis
Neurologist 23:138-140, Finelli, P.F., 2018
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017