Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021
Spontaneous Subarachnoid Haemorrhage
Lancet 389:655-666, Macdonald, R.L. & Schweizer, T.A., 2017
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
Paraneoplastic Neurological Syndromes
Clin Exp Immunol 175:336-348, Leypoldt, F. & Wandinger, K.-P., 2014
Clinicopathologic Conferences, Celiac Disease, Addisons Disease, and Major Depression Disorder
NEJM 368:2015-2024, Case 16-2013, 2013
The Myositis Autoantibody Phenotypes of the Juvenile Idiopathic Inflammatory Myopathies
Medicine 92:223-243, Rider, L.,et al, 2013
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
Cancer-Associated Myositis and Anti-p155 Autoantibody in a Series of 85 Patients with Idiopathic Inflammatory Myopathy
Medicine 89:47-52, Trallero-Araguas,E.,et al, 2010
Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Validation of the 2023 International Diagnostic Criteria for MOGAD in a Selected Cohort of Adults and Children
Neurol 103:e209321, Varley,J.A.,et al, 2024
Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 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
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
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
What All Physicians Need to Know About the Polio Resurgence in New York State
JAMA online e1-e3, Larkin, H., 2022
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
Recurrent Epistaxis in an Adolescent
BMJ 367:I5393, McLaren, O. & Ronan, N., 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,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
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 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
Somatic Mutations in Cerebral Cortical Malformations
NEJM 371:733-743, Jamuar, S.S.,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
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
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
Encephalitis and antibodies to synaptic and neuronal cell surface proteins
Neurol 77:179-189, Lancaster, E.,et al, 2011
Contemporary management and recent advances in paediatric hydrocephalus
BMJ 343:d4191, Kandasamy, J.,et al, 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 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
Comparison of Clinical, Familial, and MRI Features of CADASIL and NOTCH3-Negative Patients
Neurol 74:57-63, Pantoni,L.,et al, 2010
Optimal Screening Strategy for Familial Intracranial Aneurysms: A Cost-Effectiveness Analysis
Neurol 74:1671-1679, Bor,A.S.E., et al, 2010