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Newborn Screening for Fragile X Syndrome
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Sturge-Weber Syndrome
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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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Autism and Mental Retardation among Offspring born after In Vitro Fertilization
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Febrile Infection-Related Epilepsy Syndrome: A Study of 12 Patients
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Transition to Adult Care for Children with Chronic Neurological Disorders
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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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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Epilepsy in Children with Infantile Thiamine Deficiency
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Extension of the Clinical Spectrum of Danon Disease
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Overview of Phenylketonuria
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Mirror Writing: Neurological Reflections on an Unusual Phenomenon
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Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
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Phenylketonuria
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The Tuberous Sclerosis Complex
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Developmental Neurotoxivity of Industrial Chemicals
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Oligophrenin 1 Mutations Frequently Cause X-Linked Mental Retardation with Cerebellar Hypoplasia
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Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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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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Diffusion-Weighted Imaging of White Matter Abnormalities in Patients with Phenylketonuria
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Gray Matter Heterotopia
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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Ash-Leaf Spots in Tuberous Sclerosis
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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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Prader-Willi and Angelman Syndromes
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Mucolipidosis Type IV; Characteristic MRI Findings
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Chromosome 20 Ring:A Chromosomal Disorder Associated with a Particular Electroclinical Pattern
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Neuroimaging Findings in Late Infantile GM1 Gangliosidosis
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Association of Tuberous Sclerosis of Temporal Lobes with Autism and Atypical Autism
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Muscle-Eye-Brain Disease:A Neuropathological Study
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Myotonic Dystrophy, The Role of Large Triplet Repeat Length in the Develop of Mental Retardation
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Cognitive Function and Academic Performance in Neurofibromatosis 1:North
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The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
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Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
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Bilirubin Metabolism and Kernicterus
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Cognitive Dysfunction as the Major Presenting Feature of Becker's Muscular Dystrophy
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MRI of White Matter Changes in the Sjogren-Larsson Syndrome
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
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