Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 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
Extension of the Clinical Spectrum of Danon Disease
Neurol 70:1358-1359, van der Kooi,A.J.,et al, 2008
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Mirror Writing: Neurological Reflections on an Unusual Phenomenon
JNNP 78:5-13, Schott,G.D., 2007
Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
Phenylketonuria
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The Tuberous Sclerosis Complex
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Developmental Neurotoxivity of Industrial Chemicals
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Gray Matter Heterotopia
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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
Prader-Willi and Angelman Syndromes
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Bilirubin Metabolism and Kernicterus
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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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
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Neurologic Abnormalities in Murderers
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Fetal Alcohol Syndrome and Fetal Alcohol Effects
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Alternating Hemiplegia of Childhood
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Hypomelanosis of Ito
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Twinning and Neurologic Morbisity
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Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 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
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Retinitis Pigmentosa
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Neurologic Sequelae of Cardiac Surgery in Children
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Alternating Hemiplegia of Childhood
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The Thyroid Gland:Its Relationship to Neurology
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