Pernicious Anaemia
BMJ 369:m1319, Mohamed, M.,et al, 2020
Clinopathologic Conference, Celiac Disease
NEJM 374:1875-1883, Case 14-2016, 2016
Challenges in the Identification of Cobalamin-Deficiency Polyneuropathy
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Practice Parameter: Diagnosis of Dementia (an Evidence-Based Review)
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Neurologic Aspects of Cobalamin Deficiency
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Congenital Cytomegalovirus Infection
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Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
Neurol 78: e126, Shah, S.,et al, 2012
Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Diagnosis and Management of Cerebral Venous Thrombosis: A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association
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Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Clinical Features and Diagnosis of Primary Central Nervous System Lymphoma
Hematol Oncol Clin North Am 19:689-703, Fitzsimmons,A.,et al, 2005
Presenting Features and Value of Diagnostic Procedures in Leptomeningeal Metastases
Neurol 53:382-385, van Oostenbrugge,R.J.&Twijnstra,A., 1999
Evaluation and Management of Intracranial Mass Lesions in AIDS
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Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Phosphorylase Deficiency
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Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
Primary Central Nervous System Lymphoma:Clinical Features, Diagnosis, and Extent of Disease Evaluation
www.UptoDate.com, Jan, Nayak,L & Batchelor,T., 2024
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD): Clinical Features and Diagnosis
UptoDate.com, March, Flanagan,E.P. & Tillema,J-M, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD):Clinical Features and Diagnosis
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Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
An 8-Year-Old with Acute Onset Ataxia
Neurol 99:305-310, McLaren, J.R.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Sturge-Weber Syndrome
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Paraneoplastic Myeloneuropathies
Neurol 96:e632-e639, Shah, S.,et al, 2021
Acute Flaccid Myelitis: Cause, Diagnosis, and Management
Lancet 394:334-397, Murphy, O.C.,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
Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis
NEJM 385:1220-1229, Case 29-2021, 2021
Determination of Brain Death
NEJM 385:2554-2561, Greer, D.M., 2021
Hopkins Syndrome
Neurol 94:e996-e997, Sgobbi de Souza, P. V.,et al, 2020
Determination of Brain Death/Death by Neurologic Criteria
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Radiologically Isolated Syndrome: A Review for Neuroradiologists
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Migraine
NEJM 383:1866-1876, Ashina, M., 2020
Cyclic Vomiting Syndrome in Children
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"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
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Acute Treatment of Migraine in Children and Adolescents
Neurol 93:487-499, Oskoui, M.,et al, 2019
Acute Rheumatic Fever: Clinical Manifestations and Diagnosis
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