Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Autoimmune Encephalitis as Treatment-Responsive Cause of Rapidly Progressive Dementia
Neurol 106:e214933, van Steenhoven,R.W.,et al, 2026
A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Genome Sequencing in the NICU and PICU is Here to Stay
Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024
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
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
Autoimmune Nodopathies, An Emerging Dignostic Category
Curr Opin Neurol 35:579-585, Martin-Agullar, L.,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
HIV Infection - Screening, Diagnosis, and Treatment
NEJM 384:2131-2143, Saag, M.S., 2021
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
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Clinicopathologic Conference, Advanced AIDS Complicated by HSV-1 Encephalopathy. Basal-Cell Carcinoma. Kaposis Sarcoma.
NEJM 376:2580-2589, Case 20-2017, 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Anal Carcinoma
NCCN.org April 2017 V2.2017, , 2017
The Relevance of VGKC Positivity in the Absence of LGI1 and Caspr2 Antibodies
Neurol 86:1692-1699,1657, Sonderen, A.V.,et al, 2016
Autism
Lancet 383:896-910, Lai, M.C.,et al, 2014
Newborn Screening for Fragile X Syndrome
JAMA Neurol 71:355-359, Tassone, F., 2014
Opt-Out HIV Testing in Adult Critical Care Units
Lancet 383:1460, Thornhill, J.,et al, 2014
Somatic Mutations in Cerebral Cortical Malformations
NEJM 371:733-743, Jamuar, S.S.,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
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
Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,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
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
Test all Adults aged 15 to 65 for HIV, recommends task force
BMJ 345:e7944, Davies, E., 2012
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Encephalitis and antibodies to synaptic and neuronal cell surface proteins
Neurol 77:179-189, Lancaster, E.,et al, 2011
Results of the Expanded HIV Testing Initiative - 25 Jurisdictions, United States 2007-2010
JAMA 306:698-700, , 2011
Screening for HIV Infection A Healthy, "Low-Risk" 42-Year-Old Man
JAMA 306:637-644, Libman, H., 2011
Routine HIV Screening - What Counts in Evidence-Based Policy?
NEJM 365:1265-1268, Bayer, R. and Oppenheimer G.M., 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
HIV Screening of Male Inmates During Prison Intake Medical Evaluation - Washington, 2006-2010
JAMA 306:1756-1757, Strick, L.B., 2011
Impact of Late Diagnosis and Treatment on Life Expectancy in People with HIV-1: UK Collaborative HIV Cohort (UK CHIC) Study
BMJ 343:d6016,d6015, May, M.,et al, 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
Wolff-Parkinson-White Syndrome in Patients with MELAS
Arch Neurol 64:1625-1627, Sproule,D.M.,et al, 2007
Revised Recommendations for HIV Testing of Adults, Adolescents, and Pregnant Women in Health-Care Settings
MMWR 55:1-17, Gerberding, J.L.,et al, 2006
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006