The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Perinatal Loss and Neurological Abnormalities Among Children of the Atomic Bomb
JAMA 264:605-609, 6221990., Yamazaki,J.N.&Schull,W.J., 1990
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
Clinicopath Conf
Tuberous Sclerosis, Case 41-1986, NEJM 315:1013-1022986., , 1986
Nevoid Basal Cell Carcinoma Syndrome & Epilepsy
Ann Neurol 11:372-376, Murphy,M.J.,et al, 1982
Febrile Infection-Related Epilepsy Syndrome: A Study of 12 Patients
Seizure 22:553-559, Caraballo, R.H.,et al, 2013
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
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Diffusion-Weighted Imaging of White Matter Abnormalities in Patients with Phenylketonuria
AJNR 22:1583-1586, Phillips,M.D.,et al, 2001
Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Cerebral Cortex and Brainstem Involvement in Marinesco-Sjogren Syndrome
Ann Neurol 27:448-449, Katafuchi,Y.,et al, 1990
The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
Arch Neurol 47:1239-1242, Bromberg,M.B.,et al, 1990
Neurologic Status and Intracranial Hemorrhage in Very-Low-Birth Weight Preterm Infants
Am J Dis Child 143:1186-1190, Ford,L.M.,et al, 1989
Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984
Neonatal Polycythemia Causing Multiple Cerebral Infarcts
Arch Neurol 37:109-110, Amit,M.,et al, 1980
Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
Am J Med 68:122-140, Hall,J.G.,et al, 1980
Neurological Involvement in the Epidermal Naevus Syndrome
JNNP 41:466, McAuley,D.L.,et al, 1978
Neurological Complications of Infantile Osteopetrosis
Ann Neurol 2:378, Lehman,R.A.W.,et al, 1977
Pediatric Neurology
Psych Annals 2:1, , 1972
Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
NEJM 274:384, Renuart,A., 1966
Cerebrovascular Accidents in Patients with Congenital Heart Disease
Arch Neurol & Psychiat 77:483957., Tyler,H.R.,et al, 1957
An 11-year-old Boy with Language Disorder and Epilepsy
Neurol 86:e48-e53, Dong, L. & Zhou, X., 2016
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
Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
Lancet 380:1674-1682, Rauch, A.,et al, 2012
Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Transition to Adult Care for Children with Chronic Neurological Disorders
Ann Neurol 69:437-444, Camfiled, P. & Camfield, C., 2011
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
Epilepsy in Children with Infantile Thiamine Deficiency
Neurol 73:828-833, Fattal-Valevski,A.,et al, 2009
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
Oligophrenin 1 Mutations Frequently Cause X-Linked Mental Retardation with Cerebellar Hypoplasia
Neurol 65:1364-1369,1346, Zanni,G.,et al, 2005
Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
Eur J Radiol Extra 54: 5-9, Teksam,M.,et al., 2005
Mental Retardation
Neurol 61:156-157, Patterson,M.C. &Zoghbi,H.Y., 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
Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
Cognitive Function and Academic Performance in Neurofibromatosis 1:North
K. N. , et al, Neurol 48:1121-11277., , 1997
Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
Neurol 49:1042-1047, Dobyns,W.B.,et al, 1997
The Relation of Transient Hypothyroxinemia in Preterm Infants to Neurologic Development at Two Years of Age
NEJM 334:821-827, 8571996., Reuss,M.L.,et al, 1996
Maternal Phenylketonuria:Magnetic Resonance Imaging of the Brain in Offspring
J Pediatr 128:770-775, Levy,H.L.,et al, 1996
The Epilepsy of Trisomy 9p
Neurol 47:821-824, Stern,J.M., 1996
Startle Provoked Epileptic Seizures:Features in 19 Patients
JNNP 61:151-156, Manford,M.R.A.,et al, 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996