An 11-year-old Boy with Language Disorder and Epilepsy
Neurol 86:e48-e53, Dong, L. & Zhou, X., 2016
Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
Neurol 46:810-814, Connolly,A.M.,et al, 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Fetal Alcohol Syndrome and Fetal Alcohol Effects
Comm of Substance Abuse & Comm on Children with Disabilitites, Pediatrics 91:1004-100693., , 1993
Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Fetal Alcohol Syndrome in Adolescents and Adults
JAMA 265:1961-1967, Streissguth,A.P.,et al, 1991
Bilateral Central Macrogyria:Epilepsy, Pseudobulbar Palsy, and Mental Retardation-A Migration Disorder
Ann Neurol 25:547-554, Kuzniecky,R.,et al, 1989
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Neurological Complications of Infantile Osteopetrosis
Ann Neurol 2:378, Lehman,R.A.W.,et al, 1977
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
Adams & Victors Principles of Neurology Chp 40, pg 1156, Ropper, A.H.,et al, 2014
Febrile Infection-Related Epilepsy Syndrome: A Study of 12 Patients
Seizure 22:553-559, Caraballo, R.H.,et al, 2013
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
Ann Neurol 62:347-355, Bonthius,D.J.,et al, 2007
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
Bilirubin Metabolism and Kernicterus
Adv Pediatr 44:173-229, Gourley,G.R., 1997
The Epilepsy of Trisomy 9p
Neurol 47:821-824, Stern,J.M., 1996
A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
J Pediatr 129:611-614, Giangreco,C.A.,et al, 1996
Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
Lancet 345:161-162, Jouet,M.&Kenwrick,S., 1995
Neurologic Abnormalities in Murderers
Neurol 45:1641-1647, Blake,P.Y.,et al, 1995
Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
Ann Neurol 35:680-688, Davis,L.E.,et al, 1994
Neuroleptics, Learning Disability, and the Community:Some History and Mystery
BMJ 307:184-187, Manchester,D., 1993
Alternating Hemiplegia of Childhood
J Pediatr 122:673-679, Bourgeois,M.,et al, 1993
Pre-and Postcontrast MR Studies in Tuberous Sclerosis, Wippold
J Comput Assist Tomogr 16:69-72, II,F.J.,et al, 1992
New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
Long-Term Outcome of Neonatal Meningitis
Am J Dis Child 146:567-571, Franco,S.M.,et al, 1992
Serial MRI in Fukuyama Type Congenital Muscular Dystrophy
Neuroradiol 34:396-398, Aihara,M.,et al, 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Epidermal Nevus Synd:A Neurologic Variant with Hemimegalencephaly, Gyral Malf, Mental Retard, Seizures & Facial Hemihyper
Neurol 41:266-271, Pavone,L.,et al, 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Valproic Acid for the Treatment of Children with Mental Retardation and Mood Symptomatology
Pediatrics 86:467-472, Kastner,T.,et al, 1990
The Sequelae of Haemophilus Influenzae Meningitis in School-Age Children
NEJM 323:1657-1663, Taylor,G.H.,et al, 1990
Sulfite Oxidase Deficiency:Clinical, Neuroradiologic, and Biochemical Features in Two New Patients
Neurol 39:252-257, Brown,G.K.,et al, 1989
Encephalotrigeminal Angiomatosis
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 582, Gold,A.P., 1989
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Alternating Hemiplegia of Childhood
Int Pediatr 2:115-119, Aicardi,J., 1987