Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 2014
Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Whipples Disease
NEJM 356:55-66, Fenollar,F.,et al, 2007
New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002
Diagnosing Motor Neurone Disease
BMJ 312:650-651, Chancellor,A.M., 1996
A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
J Pediatr 129:611-614, Giangreco,C.A.,et al, 1996
Diagnostic Yield of the Neurologic Assessment of the Developmentally Delayed Child
J Pediatr 127:193-199, Majnemer,A.&Shevell,M.I., 1995
Rapid Antibody Test for Fragile X Syndrome
Lancet 345:1147-1148, Willemsen,R.,et al, 1995
Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994
Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993
Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992
Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
NEJM 325:1673-1681, Rousseau,F.,et al, 1991
Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
NEJM 325:1720-1738, Sutherland,G.R.,et al, 1991
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Sturge-Weber Syndrome
www.UptoDate.com,Dec, Patterson,M.C., 2022
Acute Flaccid Myelitis: Cause, Diagnosis, and Management
Lancet 394:334-397, Murphy, O.C.,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
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021
National Institute of Neurological Disorders and Stroke Consensus Diagnostic Criteria for Traumatic Encephalopathy Syndrome
Neurol 96:848-863, Katz, D.I.,et al, 2021
Complete Evaluation of Dementia: PET and MRI Correlation and Diagnosis for the Neuroradiologist
AJNR 42:998-1007, Oldan, J.D.,et al, 2021
Chronic Meningitis
NEJM 385:930-936, Aksamit, A.J., 2021
Spontaneous Intracranial Hypotension
NEJM 385:2173-2178, Schievink, W.I., 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Telemedicine in Neurology
Neurol 94:30-38,16, Hatcher-Martin, J.M.,et al, 2020
Hashimoto Encephalopathy in the 21st Century
Neurol 94:e217-e224, Mattozzi, S.,et al, 2020
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Functional Gait Disorders
Neurol 94:1093-1099, Nonnekes, J.,et al, 2020
Long Survival Sporadic Creutzfeldt-Jakob Disease
Neurol 95:87-88, Liu, X.Y.,et al, 2020
Clinical Characteristics, Risk Factors, and Outcomes of POEMS Syndrome
Neurol 95:e268-e279, Keddie, S.,et al, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
AJNR 40:199-203, Pascual, B.,et al, 2019
Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
Brain DOI: 10.1093/brain/awz099, Nelson, P.T.,et al, 2019
Diagnosis and Management of Dementia
JAMA 322:1589-1599, Arvanitakis, Z.,et al, 2019
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Practice Guide Update Summary: Mild Cognitive Impairment
Neurol 90:126-135, Petersen, R.C.,et al, 2018
Persistent Postural-Perceptual Dizziness (PPPD): A Common, Characteristic and Treatable Cause of Chronic Dizziness
Pract Neurol 18:5-13, Popkirov, S.,et al, 2018
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Toxidrome Recognition in Chemical - Weapons Attacks
NEJM 378:1611-1620, Ciottone, G.R., 2018
Diagnosis and Management of the Antiphospholipid Syndrome
NEJM 378:2010-2021, Garcia, D. & Erkan, D., 2018
Spontaneous Subarachnoid Haemorrhage
Lancet 389:655-666, Macdonald, R.L. & Schweizer, T.A., 2017
Primary Angiitis of the Central Nervous System
Stroke 48:1248-1255, Boulouis, G.,et al, 2017