Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Autism
Lancet 383:896-910, Lai, M.C.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014
The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
Stroke 43:2871-2876, Pescini, F.,et al, 2012
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Screening for Intracranial Aneurysms in ADPKD: A More Accurate Risk Assignment Model Is Needed
BMJ 339:706-707, Ong,A., 2009
Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009
Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Tuberous Sclerosis Complex:Clinical Features
www.UptoDate.com, Dec, Randle,S., et al, 2023
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021
Melbourne Mobile Stroke Unit and Reperfusion Therapy
Stroke 51:922-930, Zhao, H.,et al, 2020
Implementation of a Prehospital Stroke Triage System Using Symptom Severity and Teleconsultation in the Stockholm Stroke Triage Study
JAMA Neurol 77:691-699, Mazya, M.V.,et al, 2020
The COVID-19 Pandemic and the Ethical Duties of the Neurologist
Neurol 95:167-172, Rubin, M.A.,et al, 2020
Long-Term Treatment Effect in Cerebrotendinous Xanthomatosis Depends on Age at Treatment Start
Neurol 92:e83-e95, Stelten, B.M.L.,et al, 2019
Recommendations for the Establishment of Stroke Systems of Care
Stroke 50:e1-e24, Adeoye, O.,et al, 2019
Recurrent Epistaxis in an Adolescent
BMJ 367:I5393, McLaren, O. & Ronan, N., 2019
Spontaneous Subarachnoid Haemorrhage
Lancet 389:655-666, Macdonald, R.L. & Schweizer, T.A., 2017
Characteristics in Limbic Encephalitis with Anti-Adenylate Kinase 5 Autoantibodies
Neurol 88:514-524,508, Do, L. & Chanson, E., 2017
Clinicopathologic Conference, Advanced AIDS Complicated by HSV-1 Encephalopathy. Basal-Cell Carcinoma. Kaposis Sarcoma.
NEJM 376:2580-2589, Case 20-2017, 2017
Effect of Gluten-Free Diet on Cerebellar MR Spectroscopy in Gluten Ataxia
Neurol 89:705-709, Hadjivassiliou, M.,et al, 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Emerging Cases of Powassan Virus Encephalitis in New England:Clinical Presentation, Imaging, and Review of the Literature
CID 62:707-713, Piantadosi,A.,et al, 2016
Encephalitis and AMPA Receptor Antibodies
Neurol 84:2403-2412, Hoftberger, R.,et al, 2015
Intracranial Dural Arteriovenous Fistulae
Stroke 46:2017-2025, Miller, T.R. & Gandhi, D., 2015
Newborn Screening for Fragile X Syndrome
JAMA Neurol 71:355-359, Tassone, F., 2014
Somatic Mutations in Cerebral Cortical Malformations
NEJM 371:733-743, Jamuar, S.S.,et al, 2014
Alberta Stroke Program Early Computed Tomography Score to Select Patients for Endovascular Treatment
Stroke 45:444-449, Hill, M.D.,et al, 2014
Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Paraneoplastic Neurological Syndromes
Clin Exp Immunol 175:336-348, Leypoldt, F. & Wandinger, K.-P., 2014
Low Prevalence of Neurocognitive Impairment in Early Diagnosed and Managed HIV-Infected Persons
Neurol 80:371-379, Crum-Cianflone, N.,et al, 2013
A Systematic Approach to the Diagnosis of Suspected Central Nervous System Lymphoma
JAMA Neurol 70:311-319, Scott, B.J.,et al, 2013
Computed Tomography Angiography in Hyperacute Ischemic Stroke
Stroke 44:1480-1488, Mortimer, A.,et al, 2013
Frequency and Characteristics of Isolated Psychiatric Episodes in Anti-N-Methyl-D-Aspartate Receptor Encephalitis
JAMA Neurol 70:1133-1139, Kayser, M.S.,et al, 2013
Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013
Predicting Alzheimer Disease with �-Amyloid Imaging: Results from the Australian Imaging, Biomarkers, and Lifestyle Study of Ageing
Ann Neurol 74:905-913, Rowe, C.C.,et al, 2013
Misdiagnosis of Treatable Stroke Mimic: The Case for HIV Screening in Practice Guidelines
Neurohosp 3:125-130, Finelli, P.F., 2013
Is It All Cerebral Toxoplasmosis?
Lancet 379:286, Mentzer,A.,et al, 2012
Screening Patients with a Family History of Subarachnoid Haemorrhage for Intracranial Aneurysms: Screening Uptake, Patient Characteristics and Outcome
JNNP 83:86-88, Miller, T.D.,et al, 2012
Autoimmune Epilepsy
Arch Neurol 69:582-593,565, Quek, A.M.L.,et al, 2012
Screening for Fitness to Drive After Stroke: A Systematic Review and Meta-Analysis
Neurol 76:747-756, e35, Devos,H.,et al, 2011
Incidence and Predictors of Myocardial Infarction After Transient Ischemic Attack: A Population-Based Study
Stroke 42:935-940, Burns,J.D.,et al, 2011