Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,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
Prospective Observations of 100 High-Risk Neonates by High-Field MRI of CNS:I. Intraventricular & Extracerebral Lesions
Pediatrycs 87:421-430, Keeney,S.E.,et al, 1991
Thalamic Hemorrhage with Intraventricular Hemorrhage in the Full-Term Newborn
Pediatrics 85:737-742, Rowland,E.H.,et al, 1990
Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
Neurol 40:1876-1882, Gascon,G.G.,et al, 1990
Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990
Morbidity for Survivors of Extracorporeal Membrane Oxygenation:Neurodevelopmental Outcome at 1 Year of Age
Pediatrics 83:72-78, Glass,P.,et al, 1989
Bilateral Central Macrogyria:Epilepsy, Pseudobulbar Palsy, and Mental Retardation-A Migration Disorder
Ann Neurol 25:547-554, Kuzniecky,R.,et al, 1989
Congenital AIDS:Review of Neurological Problems
Child's Nerv Syst 5:9-11, Curles,R.G., 1989
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
MR of Neuronal Migration Anomalies
AJR 150:179-187, Barkovich,A.J.,et al, 1988
Cavum Vergae, Association with Neurologic Abnormality & Diagnosis by Magnetic Resonance Imaging
Arch Neurol 43:821-823, Miller,M.E.,et al, 1986
Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985
Alexander's Disease, A Disease of Astrocytes
Brain 108:367-385, Borrett,D.&Becker,L.E., 1985
Schizencephaly:A Clinical & CT Study
Neurol 34:997-1001, Miller,G.M.,et al, 1984
Familial Porencephaly
Arch Neurol 40:567-569, Berg,R.A.,et al, 1983
Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
Arch Neurol 37:300-305, Sarnatt,H.B.,et al, 1980
The Aicardi Syndrome:Report of 4 Cases & Review of the Literature
Ann Neurol 5:475-482, Bertoni,J.M.,et al, 1979
Neurological Complications of Infantile Osteopetrosis
Ann Neurol 2:378, Lehman,R.A.W.,et al, 1977
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
When Should a Brain MRI Be Performed in Children with New-Onset Seizures? Results of a Large Prospectice Trial
AJNR 42:1645-1701, Hourani, R.,et al, 2021
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
Neurol 94:939-942, Madaan, P.,et al, 2020
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Pontine Tegmental Cap Dysplasia in a Neonate
Neuol 91:e2100-e2101, Bilgin, N.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
Neurol 88:e52-e54, da paz Oliveira, G.,et al, 2017
A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
AJNR 35:402-406, Bhargava, R.,et al, 2014
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Hydrocephalus
Adams & Victors Principles of Neurology, Chp 30, pg 622, Ropper, A.H.,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
Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
MRI in Methylmalonic Acidemia
Neurol 74:e14, Bindu, P.S.,et al, 2010
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
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007