The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Molybdenum Cofactor Deficiency
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The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
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The Epilepsy of Trisomy 9p
Neurol 47:821-824, Stern,J.M., 1996
Angelman Syndrome: Clinical Profile
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Congenital Brain Anomalies Associated with the Hypoplastic Left Heart Syndrome
Pediatrics 85:984-990, Glauser,T.A.,et al, 1990
Natural History of the Fetal Alcohol Syndrome:A 10-Year Follow-Up of Eleven Patients
Lancet 2:85-91, Streissguth,A.P.,et al, 1985
Coffin-Siris Syndrome, Neuropathologic Findings
Arch Neurol 42:350-353, DeBassio,W.A.,et al, 1985
Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
Ann Neurol 6:340-348, 1979, Soffer,D.,et al, 1979
Herpes Simplex & the Human Nervous System
Milit Med 140:765, Finelli,P.F., 1975
Diagnostic Significance of Median Facial Anomalies for Holoprosencephaly
Pediatr 256, 1964 Aug., DeMeyer,W.,et al, 1964
In Utero MR Imaging for Fetuses with Small Head Sizes Without Intracranial Abnormalities Detected on Ultrasonography
AJNR 46:1917-1924, Griffiths,P.D.,et al, 2025
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Neuroimaging Findings of Zika Virus-Associated Neurologic Complications in Adults
AJNR 39:1967-1974, Hygino da Cruz, L.C.,et al, 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
Nonmicrocephalic Infarcts with Congenital Zika Syndrome Suspected Only after Neuroimaging Evaluation Compared with Those with Microcephaly at Birth and Postnatally: How Large is the Zika Virus "Iceberg"?
AJNR 38:1427-1434, Aragao, M.F.V.V.,et al, 2017
Computed Tomographic Findings in Microcephaly Associated with Zika Virus
NEJM 374:2193-2195, Hazin, A.,et al, 2016
Zika Virus as an Emerging Global Pathogen
JAMA Neurol 73:875-879, Beckham, J.D.,et al, 2016
Neonatal Abstinence Syndrome
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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
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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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
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
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Major Congential Malformations After First-Trimester Exposure to ACE Inhibitors
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Mutations in the Molybdenum Cofactor Biosynthetic Genes MOCS1, MOCS2, and GEPH
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Pyridostigmine-Induced Microcephaly
Neurol 54:1873-1874, Niesen,C.E.&Shah,N.S., 2000
White Matter MR Hyperintensities in Adult Patients with Congenital Rubella
AJNR 17:99-103, Barton Lane,E.,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
Prenatal Alcohol Exposure and Long-Term Developmental Consequences
Lancet 341:907-910, Spohr,H.,et al, 1993
TORCH Infections in the Newborn
Semin Neurol 13:106-115, Donley,D.K., 1993
Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
Am J Dis Child 147:1291-1294, Alvarado,M.,et al, 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
Magnetic Resonance Imaging of the Brain in Congenital Rubella Virus and Cytomegalovirus Infections
Neuroradiology 33:239-242, Sugita,K.,et al, 1991
Perinatal Loss and Neurological Abnormalities Among Children of the Atomic Bomb
JAMA 264:605-609, 6221990., Yamazaki,J.N.&Schull,W.J., 1990
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
Computed Tomographic Findings of Brain & Skull in Myotonic Dystrophy
JNNP 50:435-438, Avrahami,E.,et al, 1987