The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 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
Febrile Infection-Related Epilepsy Syndrome: A Study of 12 Patients
Seizure 22:553-559, Caraballo, R.H.,et al, 2013
The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Transition to Adult Care for Children with Chronic Neurological Disorders
Ann Neurol 69:437-444, Camfiled, P. & Camfield, C., 2011
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
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Prenatal Magnesium Sulfate Expos/Risk for CP or MR Among Very Low-Birth-Weight Child Aged 3-5 Yrs
JAMA 276:1805-1810, 18431996., Schendel,D.E.,et al, 1996
Survival of Profoundly Disabled People with Severe Mental Retardation
Am J Dis Child 147:329-336, Eyman,R.K.,et al, 1993
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
Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.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
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,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
Valproic Acid for the Treatment of Children with Mental Retardation and Mood Symptomatology
Pediatrics 86:467-472, Kastner,T.,et al, 1990
Efficacy of Methylphenidate Among Mentally Retarded Children with Attention Deficit Hyperactivity Disorder
Pediatrics 86:922-930, Handen,B.L.,et al, 1990
Prospective Study of Outcome of Infants with Infantile Spasms Treated During Studies of ACTH & Prednisone
J Pediatr 112:389-396, Glaze,D.G.,et al, 1988
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985
The Child Who is Slow to Talk
BMJ 285:671-672, Robinson,R.J., 1982
Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
Am J Med 68:122-140, Hall,J.G.,et al, 1980
Unrecognized Adult Phenylketonuria
NEJM 289:395, 1973, 289:1040, 1973, 290:1084., Perry,T.,et al, 1974
Psychological Management of the Retarded Child & Its Family
Psych Ann 3:Jul, Freeman,R., 1973
Diphenylhydantoin & Selected Congenital Malformations
NEJM 289:1049, 1973; 289:1089973., Monson,R.,et al, 1973
Infantile Spasms Favorable Response to Steroid Therapy
JAMA 201:116, Snyder,C.H., 1967