Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
Neurol 94:939-942, Madaan, P.,et al, 2020
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
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
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
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
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Mutations in the Molybdenum Cofactor Biosynthetic Genes MOCS1, MOCS2, and GEPH
Hum Mutat 21:569-576, Reiss,J. &Johnson,J.L., 2003
Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
Ann Neurol 31:64-68, Perlman,J.M.&Argyle,C., 1992
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Perinatal Loss and Neurological Abnormalities Among Children of the Atomic Bomb
JAMA 264:605-609, 6221990., Yamazaki,J.N.&Schull,W.J., 1990
Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985
Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
Am J Med 68:122-140, Hall,J.G.,et al, 1980
EEG Recognition of Aicardi's Syndrome
Arch Neurol 34:563, Fariello,R.G.,et al, 1977
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,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
Neonatal Abstinence Syndrome
NEJM 375:2468-2479, McQueen, K. & Murphy-Oikonen, J., 2016
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
Ann Neurol 62:347-355, Bonthius,D.J.,et al, 2007
The Epilepsy of Trisomy 9p
Neurol 47:821-824, Stern,J.M., 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
TORCH Infections in the Newborn
Semin Neurol 13:106-115, Donley,D.K., 1993
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Brain and Ocular Abnormalities in Infants with In Utero Exposure to Cocaine and other Street Drugs
Am J Dis Child 145:688-695, Dominguez,R.,et al, 1991
Effect of Very Low Brith Weight and Subnormal Head Size on Cognitive Abilities at School Age
NEJM 325:231-237, Hack,M.,et al, 1991
Sulfite Oxidase Deficiency:Clinical, Neuroradiologic, and Biochemical Features in Two New Patients
Neurol 39:252-257, Brown,G.K.,et al, 1989
Congenital AIDS:Review of Neurological Problems
Child's Nerv Syst 5:9-11, Curles,R.G., 1989
Pediatric Acquired Immunodefieiency Syndrome
Am J Dis Child 142:29-35, Belman,A.L.,et al, 1988
Difference Between Herpes Simplex Virus Type I & Type 2 Neonatal Encephalitis in Neurological Outcome
Lancet 1:1-4, Corey,L.,et al, 1988
Human Cytomegalovirus Infection & Disorders of the Nervous System
Jr. , Arch Neurol 41:310-320984., Bale,J.F., 1984
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
A Progressive Syndrome of Autism, Dementia, Ataxia, & Loss of Purposeful Hand Use in Girls:Rett's Syndrome
Ann Neurol 14:471-491, Hagberg,B., 1983
Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
Neurol 32:1277-1281, Baumann,R.J.,et al, 1982
Maternal Seizure Disorder, Outcome of Pregnancy, & Neurologic Abnormalities in the Children
Neurol 32:1247-1254, Nelson,K.B.,et al, 1982
The Aicardi Syndrome:Report of 4 Cases & Review of the Literature
Ann Neurol 5:475-482, Bertoni,J.M.,et al, 1979
Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
Arch Neurol 35:337, Brumback,R.A.,et al, 1978
The Lissencephaly, (Agyria) Syndrome in Siblings
Arch Neurol 35:608-611, Garcia,C.A.,et al, 1978
School Failure & Deafness After"Silent"Congenital Cytomegalovirus Infection
NEJM 295:468, Hanshaw,J.B.,et al, 1976
Herpes Simplex & the Human Nervous System
Milit Med 140:765, Finelli,P.F., 1975
Maternal Epilepsy & Abnormalities of the Fetus & Newborn
Lancet 839, Oct1972., Speidel,B.,et al, 1972
Diagnostic Significance of Median Facial Anomalies for Holoprosencephaly
Pediatr 256, 1964 Aug., DeMeyer,W.,et al, 1964
Neuro CPC of MGH
Congenital Toxoplasmosis Involving CNS, NEJM 269:369-3741963., , 1963