A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Prader-Willi and Angelman Syndromes
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Congenital Cytomegalovirus Infection
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Molybdenum Cofactor Deficiency
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Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
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Cognitive Delay in a 7-year-old Girl
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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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The Epilepsy of Trisomy 9p
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Prenatal Alcohol Exposure and Long-Term Developmental Consequences
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Mental Development of 2-Year-Old Children Exposed to Alcohol in Utero
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Angelman Syndrome: Clinical Profile
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A Clinical Study of Noonan Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
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Perinatal Loss and Neurological Abnormalities Among Children of the Atomic Bomb
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Congenital AIDS:Review of Neurological Problems
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Alexander's Disease, A Disease of Astrocytes
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Schizencephaly:A Clinical & CT Study
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Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
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Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
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The Aicardi Syndrome:Report of 4 Cases & Review of the Literature
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Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
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Neurological Complications of Infantile Osteopetrosis
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A Comparison of the Physical & Intellectual Development of Black Children with & without Sickle-Cell Trait
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Prader-Willi-Syndrome, In Endocrine & Genetic Diseases of Childhood & Adolescence
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Congenital Anomalies & Herpesvirus Infection
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Clinical Study of Nine Patients with ReNU Syndrome
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Congenital Zika Syndrome
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Multivessel Cerebral Occlusion in Noonan Syndrome
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Niemann-Pick Disease Type C
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
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Neuroimaging Features of Biotinidase Deficiency
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An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Sturge-Weber Syndrome
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
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Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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