Civitan International Research Center
Pediatrics
Dr. Alan K. Percy, MD
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Dr. Alan K. Percy is an expert in the field of Pediatrics. He studied medicine at Stanford University School of Medicine. Stanford University School of Medicine is a top medical university. Stanford University School of Medicine is ranked 2 in research and 25 in primary care medicine Dr. Alan K. Percy is also published. He has 99 publications published. The lastest publication: "Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.'
Publications
- Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale.
- Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.
- The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.
- Treatment of cardiac arrhythmias in Rett Syndrome with sodium channel blocking antiepileptic drugs.
- Age of Diagnosis in Rett Syndrome: Patterns of Recognition Among Diagnosticians and Risk Factors for Late Diagnosis.
- Pubertal Development in Rett Syndrome Deviates From Typical Females.
- Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.
- The American History of Rett Syndrome.
- Evaluation of Current Pharmacological Treatment Options in the Management of Rett Syndrome: From the Present to Future Therapeutic Alternatives.
- Neuroscience. Path to treat Rett syndrome.
- Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome.
- Recent Progress in Rett Syndrome and MeCP2 Dysfunction: Assessment of Potential Treatment Options.
- Growth failure and outcome in Rett syndrome: Specific growth references.
- Hippocampal CA1 Pyramidal Neurons of Mecp2 Mutant Mice Show a Dendritic Spine Phenotype Only in the Presymptomatic Stage.
- Splice site, frameshift and chimeric GFAP mutations in alexander disease.
- Pathogenesis of lethal cardiac arrhythmias in mecp2 mutant mice: implication for therapy in rett syndrome.
- Rett syndrome: exploring the autism link.
- Vitamin D Deficiency is Prevalent in Females with Rett Syndrome.
- Rett syndrome diagnostic criteria: lessons from the Natural History Study.
- Profiling scoliosis in Rett syndrome.
- Longevity in Rett syndrome: analysis of the North American Database.
- Variable phenotypic expression of a MECP2 mutation in a family.
- Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations.
- A study of the treatment of Rett syndrome with folate and betaine.
- Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations.
- Nothing out of sequence?: think deletion!
- Does gender parity exist in Fabry disease?
- Rett syndrome: clinical and molecular update.
- Eating difficulties in girls with Rett syndrome compared with other developmental disabilities.
- Certification in neurodevelopmental disabilities: the development of a new subspecialty and results of the initial examinations.
- Rett syndrome. Current status and new vistas.
- Clinical trials and treatment prospects.
- Neurobiology and neurochemistry of Rett syndrome.
- Meeting report: Second International Rett Syndrome Workshop and Symposium.
- Metachromatic leukodystrophy: comparison of early-and late-onset forms.
- Multiple sclerosis in Rochester, Minn. A 60-year appraisal.
- FXYD1, a modulator of Na,K-ATPase activity, facilitates female sexual development by maintaining gonadotrophin-releasing hormone neuronal excitability.
- Linking molecular biology to clinical advances in developmental neurology.
- Polyunsaturated fatty acid accretion in first- and second-trimester human fetal brain: lack of correlation with levels in paired placental samples.
- Phosphoglyceride biosynthesis in bovine adrenal chromaffin cells.
- Progressive hearing loss in infants with asymptomatic congenital cytomegalovirus infection.
- 13C NMR spectroscopic analysis of phospholipid metabolism in adrenal chromaffin cells.
- Globoid cell leukodystrophy: comparison of neuropathology with magnetic resonance imaging.
- Distal infantile neuroaxonal dystrophy--a new familial variant with perineuronal argyrophilic bodies.
- Choline deficiency in cultured adrenal medullary cells: effect on phosphatidylcholine biosynthesis.
- Cerebellar hemorrhage in the term neonate: developmental and neurologic outcome.
- Neurodiagnostic studies in Krabbe's disease.
- The inherited neurodegenerative disorders of childhood: clinical assessment.
- Asymptomatic congenital cytomegalovirus infection. Audiologic, neuroradiologic, and neurodevelopmental abnormalities during the first year.
- Inherited lipid storage diseases of the central nervous system.
- Krabbe disease: specific MRI and CT findings.
- Successful conservative management of cerebellar hematomas in term neonates.
- Neoplasms of the central nervous system: epidemiologic considerations.
- Gm-gangliosidosis type I: in utero detection and fetal manifestations.
- Krabbe continuum or clinical conundrum?
- Pelizaeus-Merzbacher disease: splice sites are nice sites for disease expression.
- Chromosome 22q and the mind-brain interface: bedside to bench to bedside.
- In vitro copper stimulation of plasma peptidylglycine alpha-amidating monooxygenase in Menkes disease variant with occipital horns.
- Confirmatory studies in the prenatal diagnosis of sphingolipidoses.
- Ultrastructure manifestations of G M1 and G M2 gangliosidosis in fetal tissues.
- Metachromatic leukodystrophy: diagnosis with samples of venous blood.
- The computed tomographic appearance of cerebral cysticercosis in adults and children.
- Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosis.
- Acute isoniazid poisoning in childhood.
- Globoid cell (Krabbe''s) leukodystrophy: heterozygote detection in cultured skin fibroblasts.
- Rett syndrome: revised diagnostic criteria and nomenclature.
- Experimental models of Rett syndrome based on Mecp2 dysfunction.
- Rett syndrome: recent research progress.
- Rett syndrome: North American database.
- Board certification in child neurology and neurology: cohort study.
- Deep sedation with propofol in patients with Rett syndrome.
- Certification in child neurology: new directions for the twenty-first century.
- Rett syndrome: pathogenesis, diagnosis, strategies, therapies, and future research directions.
- Rett syndrome: model of neurodevelopmental disorders.
- Child neurology training via the research pathway: outcome study.
- Mutations in TITF-1 are associated with benign hereditary chorea.
- Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.
- An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric N...
- Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities.
- Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.
- Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome.
- Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.
- Altered energy balance may account for growth failure in Rett syndrome.
- Hand and foot growth failure in Rett syndrome.
- Extrapyramidal involvement in Rett's syndrome.
- Rett syndrome: qualitative and quantitative differentiation from autism.
- Electrocardiographic findings in Rett syndrome: an explanation for sudden death?
- Early progressive encephalopathy in boys and MECP2 mutations.
- Rett syndrome: 1H spectroscopic imaging at 4.1 Tesla.
- Rett syndrome and the autistic disorders.
- Investigating genotype-phenotype relationships in Rett syndrome using an international data set.
- Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.
- Epidemiology of Rett syndrome: a population-based registry.
- The pattern of growth failure in Rett syndrome.
- Chiari type I malformation in children.
- Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.
- Rett syndrome: discrimination of typical and variant forms.
- Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors.
Schools
Stanford University School Of Medicine
Stanford Hospital
Johns Hopkins Hospital
Doctors Specialties
- Neurodevelopmental Disabilities
- Pediatrics
Accepted Insurances
Education
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Johns Hopkins University -
Stanford University -
Stanford University School of Medicine
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