Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Curable Cause of Paraplegia: Spinal Dural Arteriovenous Fistulae
Stroke 39:2756-2759, Aghakhani,N.,et al, 2008
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
Neonatal MRI to Predict Neurodevelopmental Outcomes in Preterm Infants
NEJM 355:685-694,727, Woodward,L.J.,et al, 2006
Practice Paramenter: Neuroimaging of the Neonate
Neurol 58:1726-1738, Ment,L.R.,et al, 2002
Brain Structure and Neurocognitive and Behavioural Function in Adolescents Who Were Born Very Preterm
Lancet 353:1653-1657, Stewart,A.L.,et al, 1999
Cranial Ultrasound Predict of Disabling & Nondisabling Cerebral Palsy at Age Two in Low Birth Wt Population
Pediatrics 95:249-254, Pinto-Martin,J.A.,et al, 1995
Postoperative Neurologic Complications after Open Heart Surgery on Young Infants
Arch Pediatr Adolesc Med 149:764-768, Miller,G.,et al, 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Myotonic Dystrophy
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Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Outlook for the Child with a Cephalocele
Pediatrics 90:914-919, Brown,M.S.,et al, 1992
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Periventricular-Intraventricular Hemorrhage Sonographic Localization in Low Birth Weight Infants
Pediatrics 85:1027-1032, Krishamoorthy,K.,et al, 1990
Acid Maltase Deficiency
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Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Subarachnoid Hemmorhage During Pregnancy and Puerperium:A Population-Based Study
Stroke 54:198-207, Korhonen,A., et al, 2023
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
Brain Tumors in Children
NEJM 386:1922-1931, Cohen, A.R., 2022
Clinical Manifestations and Diagnosis of Listeria Monocytogenes Infection
UptoDate Aug, Gelfand, M.S.,et al, 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Clinicopathologic Conference, Listeria Monocytogenes Bacteremia Resulting in Fetal Loss
NEJM 385:265-274, Case 21-2021, 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020
Long Survival Sporadic Creutzfeldt-Jakob Disease
Neurol 95:87-88, Liu, X.Y.,et al, 2020
Fibromuscular Dysplasia and Its Neurologic Manifestations
JAMA Neurol 76:217-226, Touze, E.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
A 60-year-old man with arm weakness and numbness
Neurol 90:190-196, Foster, L.A.,et al, 2018
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018
Review of the Neurological Implications of von Hippel-Lindau Disease
JAMA Neurol 75:620-627, Dornbos, D.,et al, 2018
Acute Onset of Diplopia in Pregnancy
Neurol 91:e180-e184, Munro, Z. & Fernandez, D., 2018
Pediatric HIV Infection: Classification, Clinical Manifestations, and Outcome
www.UptoDate.com, June, Gillespie, S.L., 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Safety of Pregnancy After Cerebral Venous Thrombosis
Stroke 47:713-718, Aguiar de Sousa, D.,et al, 2016
Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016
Congenital Zika Virus Syndrome in Brazil: A Case Series of the first 1501 livebirths with complete investigation
Lancet 388:891-897, Franca, G.V.A.,et al, 2016
Myasthenia Gravis
NEJM 375:2570-2581, Gilhus, N.E.,et al, 2016