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
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Recurrent Epistaxis in an Adolescent
BMJ 367:I5393, McLaren, O. & Ronan, N., 2019
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
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
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Comparison of Clinical, Familial, and MRI Features of CADASIL and NOTCH3-Negative Patients
Neurol 74:57-63, Pantoni,L.,et al, 2010
Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009
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
Should We Test for IgG Antibodies Against MOG in Both Serum and CSF in Patients with Suspected MOGAD?
Neurol 100:497-498, Kim,H.J. & Palace, J., 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Guidelines in Action: Worse Headache of Life...Yesterday
Stroke 54:e488-e491, Albin,C.S.W., 2023
What All Physicians Need to Know About the Polio Resurgence in New York State
JAMA online e1-e3, Larkin, H., 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
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
Pernicious Anaemia
BMJ 369:m1319, Mohamed, M.,et al, 2020
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Diagnosis and Management of Active Intracranial Atherosclerotic Disease
Stroke 49:e221-e223, Narwal, P.,et al, 2018
MOG Encephalomyelitis: International Recommendations on Diagnosis and Antibody Testing
J Neuroinflammation 15:134, Jarius, S.et al, 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Spontaneous Subarachnoid Haemorrhage
Lancet 389:655-666, Macdonald, R.L. & Schweizer, T.A., 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
Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
JIEMS 4:1-5, Politeri,J.M.,et al, 2016
Autism
Lancet 383:896-910, Lai, M.C.,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
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
Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013
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
Central Nervous System Neuronal Surface Antibody Associated Syndromes: Review and Guidelines for Recognition
JNNP 83:638-645, Zuliani,L.,et al, 2012
Diagnosing Cerebral Aneuryms by Computed Tomographic Angiography: Meta-Analysis
Ann Neurol 69:646-654, Menke, J.,et al, 2011
Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome
The Neurologist 17:179-184, Comi, A.M., 2011
Encephalitis and antibodies to synaptic and neuronal cell surface proteins
Neurol 77:179-189, Lancaster, E.,et al, 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
Optimal Screening Strategy for Familial Intracranial Aneurysms: A Cost-Effectiveness Analysis
Neurol 74:1671-1679, Bor,A.S.E., et al, 2010
Diagnosis and Management of the Antiphospholipid Syndrome
BMJ 340:1125-1132, Cohen,D., et al, 2010
Paramedic Diagnosis of Stroke: Examining Long-Term Use of the Melbourne Ambulance Stroke Screen (MASS) in the Field
Stroke 41:1363-1366, Bray,J.E., et al, 2010
Pulmonary AVMs, including hereditary hemorrhagic telangiectasia: Diagnosis and Treatment
UpTo Date, August, Gossage, J.R., 2010
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
Detection of Unknown Primary Tumor in a Patient with Cerebellar Metastasis Using FDG PET-CT: Case Report
No Shinkei Geka 34:1027-1032, Ishiguro,T.,et al, 2006