Percy, Alan K.

Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

Neul, J. L., Fang, P., Barrish, J., Lane, J., Caeg, E. B., Smith, E. O., Zoghbi, H., Percy, A., & Glaze, D. G. (2008) · Neurology

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 498

Methyl-CpG-binding protein 2 ( MECP2 ) mutation type is associated with disease severity in Rett syndrome

Cuddapah, V. A., Pillai, R. B., Shekar, K. V., Lane, J. B., Motil, K. J., Skinner, S. A., Tarquinio, D. C., Glaze, D. G., McGwin, G., Kaufmann, W. E., et al. (2014) · Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 311

Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome

Motil, K. J., Caeg, E., Barrish, J. O., Geerts, S., Lane, J. B., Percy, A. K., Annese, F., McNair, L., Skinner, S. A., Lee, H., et al. (2012) · Journal of Pediatric Gastroenterology and Nutrition

Genetics and Neurodevelopmental DisordersChild Nutrition and Feeding Issues

Cited by 210

Neuropathology of Rett syndrome

Jellinger, K., Armstrong, D., Zoghbi, H. Y., & Percy, A. K. (1988) · Acta Neuropathologica

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 204

Rett syndrome diagnostic criteria: Lessons from the Natural History Study

Percy, A. K., Neul, J. L., Glaze, D. G., Motil, K. J., Skinner, S. A., Khwaja, O., Lee, H., Lane, J. B., Barrish, J. O., Annese, F., et al. (2010) · Annals of Neurology

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 144

Rett Syndrome: Exploring the Autism Link

Percy, A. K. (2011) · Archives of Neurology

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 144

Hippocampal CA1 Pyramidal Neurons of Mecp2 Mutant Mice Show a Dendritic Spine Phenotype Only in the Presymptomatic Stage

Chapleau, C. A., Boggio, E. M., Calfa, G., Percy, A. K., Giustetto, M., & Pozzo-Miller, L. (2012) · Neural Plasticity

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 48

Vitamin D deficiency is prevalent in girls and women with Rett syndrome

Motil, K. J., Barrish, J. O., Lane, J., Geerts, S. P., Annese, F., McNair, L., Percy, A. K., Skinner, S. A., Neul, J. L., & Glaze, D. G. (2011) · Journal of Pediatric Gastroenterology and Nutrition

Vitamin D Research StudiesGenetics and Neurodevelopmental Disorders

Cited by 46

Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study

Cutri‐French, C., Armstrong, D., Saby, J., Gorman, C., Lane, J., Fu, C., Peters, S. U., Percy, A., Neul, J. L., & Marsh, E. D. (2020) · Annals of Neurology

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 45

Abnormal carbohydrate metabolism in cerebrospinal fluid in Rett syndrome

Matsuishi, T., Urabe, F., Percy, A. K., Komori, H., Yamashita, Y., Schultz, R. S., Ohtani, Y., Kuriya, N., & Kato, H. (1994) · Journal of Child Neurology

Genetics and Neurodevelopmental DisordersMetabolism and Genetic Disorders

Cited by 41