Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
Neurol 45:311-317, Barth,P.G.,et al, 1995
Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
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, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014
Early Child Development and Exposure to Antiepileptic Drugs Prenatally and Through Breastfeeding
JAMA Neurol 70:1367-1374, Veiby, G.,et al, 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Neurodevelopment and Cognition in Children After Enterovirus 71 Infection
NEJM 356:1226-1234, Chang,L.-Y.,et al, 2007
Neonatal MRI to Predict Neurodevelopmental Outcomes in Preterm Infants
NEJM 355:685-694,727, Woodward,L.J.,et al, 2006
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Neurodevelopmental Dysfunction Among Nonreferred Children with Idiopathic Megalencephaly
J Pediatr 131:320-324, Sandler,A.D.,et al, 1997
Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
Neurol 46:810-814, Connolly,A.M.,et al, 1996
The Epilepsy of Trisomy 9p
Neurol 47:821-824, Stern,J.M., 1996
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
Ann Neurol 34:25-31, Koo,B.,et al, 1993
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
Gray Matter Heterotopias:MR Characteristics & Correlation with Develop & Neurologic Manifest
Radiology 182:493-499, Barkovich,A.J.&Kjos,B.O., 1992
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
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
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Thalamic Hemorrhage with Intraventricular Hemorrhage in the Full-Term Newborn
Pediatrics 85:737-742, Rowland,E.H.,et al, 1990
Congenital Inflammatory Myopathy
Neurol 40:1111-1114, Shevell,M.,et al, 1990
Neurological Deterioration in Young Adults with Phenylketonuria
Lancet 336:602-605, Thompson,A.J.,et al, 1990
Periventricular-Intraventricular Hemorrhage Sonographic Localization in Low Birth Weight Infants
Pediatrics 85:1027-1032, Krishamoorthy,K.,et al, 1990
Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
Neurol 40:1876-1882, Gascon,G.G.,et al, 1990
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Brain Damage by Neonatal Hypoglycaemia
Editorial, Lancet 1:882-8831989., , 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
Alexander's Disease, A Disease of Astrocytes
Brain 108:367-385, Borrett,D.&Becker,L.E., 1985
Familial Porencephaly
Arch Neurol 40:567-569, Berg,R.A.,et al, 1983
Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
Neurol 32:1277-1281, Baumann,R.J.,et al, 1982
Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
Arch Neurol 37:300-305, Sarnatt,H.B.,et al, 1980
Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
Am J Med 68:122-140, Hall,J.G.,et al, 1980
Congenital Ocular Motor Apraxia
Arch Neurol 36:29-31, Orrison,W.W.,et al, 1979
Neurological Complications of Infantile Osteopetrosis
Ann Neurol 2:378, Lehman,R.A.W.,et al, 1977