Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
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
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
Natural History of Nonketotic Hyperglycinemia in 65 Patients
Neurol 63:1847-1853, Hoover-Fong,J.E.,et al, 2004
Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003
Neurologic and Developmental Disability After Extremely Preterm Birth
NEJM 343:378-384,429, Wood,N.S. et al, 2000
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
J Pediatr 120:381-387, Weese-Mayer,D.E.,et al, 1992
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
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
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
A Child with Arthrogryposis
Neurol 91:e995-e998, Irumudomom, O. & Ghosh, P.S., 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
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, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
Neonatal MRI to Predict Neurodevelopmental Outcomes in Preterm Infants
NEJM 355:685-694,727, Woodward,L.J.,et al, 2006
Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Fetal Alcohol Syndrome and Alcohol-Related Neurodevelopmental Disorders
Pediatrics 106:358-361, Jacobs,E.A. et al, 2000
Gray Matter Heterotopia
Neurol 55:1603-1608, Barkovich,A.J. & Kuzniecky,R.I., 2000
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Management Issues for Women with Epilepsy,A Review of the Literature
Neurol 51:949-956, Zahn,C.A.,et al, 1998
An Early Marker for Neurological Deficits after Perinatal Brain Lesions
Lancet 349:1361-1363, Prechtl,H.F.R.,et al, 1997
Valproic Acid Hepatic Fatalities. III. U. S. Experience Since 1986
Neurol 46:465-469, Bryant,A.E.&Dreifuss,F., 1996
Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
Neurol 46:810-814, Connolly,A.M.,et al, 1996
Neurologic Status of HIV-1 Infected Infants and Their Controls:A Prospective Study from Birth to 2 Yrs
Pediatrics 98:1109-1118, Belman,A.L.,et al, 1996
Neurodevelopmental Outcome of Infants with Hypoplastic Left Heart Syndrome
J Pediatr 126:496-498, Rogers,B.T.,et al, 1995
Diagnostic Yield of the Neurologic Assessment of the Developmentally Delayed Child
J Pediatr 127:193-199, Majnemer,A.&Shevell,M.I., 1995
The Infant or Young Child with Developmental Delay
NEJM 330:478-483, First,L.R.&Palfrey,J.S., 1994
Post Extracorporeal Membrane Oxygenation SPECT as a Predictor of Neurodevelopmental Outcome
Pediatrics 93:951-955, Kumar,P.,et al, 1994
Prenatal Alcohol Exposure and Long-Term Developmental Consequences
Lancet 341:907-910, Spohr,H.,et al, 1993
A 10-Year Experience with Postpump Chorea
Ann Neurol 34:820-826, Medlock,M.D.,et al, 1993
A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
Neurol 42:2251-2257, Mikati,M.A.,et al, 1992
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992