Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
Lentiviral Haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access
Lancet 399:372-383, Fumagalli, F.,et al, 2022
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
A 31-Year-Old Man with Sequential Vision Loss
Neurol 98:163-169, Fortes, B.,et al, 2022
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Digital Health in Primordial and Primary Stroke Prevention: A Systematic Review
Stroke 53:1008-1019, Feigin, V.L.,et al, 2022
Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
Neurol 98:468-469, Zhao, B.,et al, 2022
Laboratory Diagnosis of Creutzfeldt-Jakob Disease
NEJM 386:1345-1350, Zerr, I., 2022
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
Wilson Disease Presenting with Catatonia
Neurol 96:e2781-e2782, Patel, R.A. & Bailey, M., 2021
Acute Treatment for Migraine
JAMA 325:2346-2347, Burch, R. & Rayhill, M., 2021
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
Neurol 97:e577-e586, Accogli, A.,et al, 2021
Atogepant for the Preventive Treatment of Migraine
NEJM 385:695-706, Ailani,J.,et al, 2021
Genetics of Cluster Headache Takes a Leap
Ann Neurol 90:191-192, Palotie, A., 2021
Direct to Angiography Suite Without Stopping for Computed Tomography Imaging for Patients with Acute Stroke
JAMA Neurol 78:1099-1107, Requena, M.,et al, 2021
Area Postrema Syndrome as the Initial Presentation of Alexander Disease
Neurol 97:548-549, Renaldo, F.,et al, 2021
Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis
NEJM 385:1220-1229, Case 29-2021, 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Sporadic Creutzfeldt-Jakob Disease in a Very Young Person
Neurol 97:813-816,801, Appleby, B.S.,et al, 2021
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 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
A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
Neurol 97:958-963, Davalos, L.,et al, 2021
Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
NEJM 385:1929-1940, Gentner, B.,et al, 2021
Determination of Brain Death
NEJM 385:2554-2561, Greer, D.M., 2021
"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021
Which Imaging Approach Should be Used for Stroke of Unknown Time of Onset?
Stroke 52:373-380, Simonsen, C.Z.,et al, 2021
A 6-Year-Old Boy with Muscle Twitching
Neurol 96:e301-e304, Lewis, H.S.,et al, 2021
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
CLOVES Syndrome
Neurol 96:e1487-e1488, Collins, M.,et al, 2021
Bilateral Temporal Pole Involvement in Adult-Onset X-Linked Adrenoleukodystrophy
JAMA Neurol 78:367-368, Liu, M.,et al, 2021
Brain and Skin Involvement in Erdheim-Chester Disease
Neurol 96:e1590-e1592, Budhram, A.,et al, 2021
Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021
Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Differential Diagnosis Checklists Reduce Diagnostic Error Differentially: A Randomised Experiment
Med Educ 55:1172-1182, Kammer, J.E.,et al, 2021
Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021
Acute Cortical Lesions in MELAS Syndrome: Anatomic Distribution, Symmetry, and Evolution
AJNR 41:167-173, Bhatia,K.D.,et al, 2020
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
Clinicopathologic Conference,Aceruloplasminemia, Hereditary
NEJM 383:1974-1983, Case 35-2020, 2020
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
Bilateral Ptosis, Dysphagia, and Progresive Weakness in a Patient of French-Canadian Background
Neurol 95:933-938, Paul,P.,et al, 2020
Variant Creutzfeldt-Jakob Disease Diagnosed 7.5 Years after Occupational Exposure
NEJM 383:83-85, Brandel, J.P.,et al, 2020