Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Prader-Willi and Angelman Syndromes
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Angelman Syndrome: Clinical Profile
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The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
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Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
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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
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Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
Ann Neurol 62:347-355, Bonthius,D.J.,et al, 2007
The Tuberous Sclerosis Complex
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Mental Retardation
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Myotonic Dystrophy, The Role of Large Triplet Repeat Length in the Develop of Mental Retardation
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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The Relation of Transient Hypothyroxinemia in Preterm Infants to Neurologic Development at Two Years of Age
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The Epilepsy of Trisomy 9p
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,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
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Prenatal Alcohol Exposure and Long-Term Developmental Consequences
Lancet 341:907-910, Spohr,H.,et al, 1993
Magnetic Resonance Imaging of Brain and the Neuromotor Disorder in Endemic Cretinism
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Arginase Deficiency Presenting as Cerebral Palsy
Pediatrics 91:995-996, Scheuerle,A.E.,et al, 1993
Alternating Hemiplegia of Childhood
J Pediatr 122:673-679, Bourgeois,M.,et al, 1993
Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
JAMA 270:2838-2842, Dobyns,W.B.,et al, 1993
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993
Hypomelanosis of Ito
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Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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Causal Heterogeneity in Isolated Lissencephaly
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Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992
Cerebellar Symptoms as Presenting Manifest of Bilirubin Encephal in Children with Crigler-Najjar Type I Disease
Pediatrics 89:768-770, Labrune,P.H.,et al, 1992
A Clinical Study of Noonan Syndrome
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
NEJM 325:1673-1681, Rousseau,F.,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
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Difference Between Herpes Simplex Virus Type I & Type 2 Neonatal Encephalitis in Neurological Outcome
Lancet 1:1-4, Corey,L.,et al, 1988
Diagnostic Criteria for Rett Syndrome
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Rett Syndrome:Natural History and Management
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Retinitis Pigmentosa
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Alternating Hemiplegia of Childhood
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Neurological Manifestations in Xeroderma Pigmentosum
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Clinicopath Conf
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Preventive Screening for Fragile X Syndrome
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Neurologic Manifestations of the Organoid Nevus Syndrome
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Neurological Findings in Patients with the Fragile-X Syndrome
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Alexander's Disease, A Disease of Astrocytes
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Schizencephaly:A Clinical & CT Study
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Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
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Cockayne Syndrome
J Comput Assist Tomogr 6:1172-1174, Levinson,E.D.,et al, 1982
Maternal Seizure Disorder, Outcome of Pregnancy, & Neurologic Abnormalities in the Children
Neurol 32:1247-1254, Nelson,K.B.,et al, 1982
Fragile X Chromosome & X-Linked Mental Retardation
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