Resultats de la cerca - Skinner, Steven A.

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges per Kaufmann, Walter E., Stallworth, Jennifer L., Everman, David B., Skinner, Steven A.

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When Rett syndrome is due to genes other than MECP2 per Percy, Alan K., Lane, Jane, Annese, Fran, Warren, Hannah, Skinner, Steven A., Neul, Jeffrey L.

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Tremors: A concept analysis per Cooley Coleman, Jessica A., Sarasua, Sara M., Boccuto, Luigi, Moore, Hannah W., Skinner, Steven A., DeLuca, Jane M.

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Clinical findings from the landmark MEF2C ‐related disorders natural history study per Cooley Coleman, Jessica A., Sarasua, Sara M., Moore, Hannah Warren, Boccuto, Luigi, Cowan, Christopher W., Skinner, Steven A., DeLuca, Jane M.

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Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings per Neul, Jeffrey L., Skinner, Steven A., Annese, Fran, Lane, Jane, Heydemann, Peter, Jones, Mary, Kaufmann, Walter E., Glaze, Daniel G., Percy, Alan K.

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Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations per Warren, Hannah E., Louie, Raymond J., Friez, Michael J., Frías, Jaime L., Leroy, Jules G., Spranger, Jürgen W., Skinner, Steven A., Champaigne, Neena L.

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Vitamin D Deficiency is Prevalent in Females with Rett Syndrome per Motil, Kathleen J., Barrish, Judy O., Lane, Jane, Geerts, Suzanne P., Annese, Fran, McNair, Lauren, Percy, Alan K., Skinner, Steven A, Neul, Jeffrey L., Glaze, Daniel G.

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Longitudinal course of epilepsy in Rett syndrome and related disorders per Tarquinio, Daniel C, Hou, Wei, Berg, Anne, Kaufmann, Walter E, Lane, Jane B, Skinner, Steven A, Motil, Kathleen J, Neul, Jeffrey L, Percy, Alan K, Glaze, Daniel G

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Biliary Tract Disease in Girls and Young Women with Rett Syndrome per Motil, Kathleen J., Lane, Jane B., Barrish, Judy O., Annese, Fran, Geerts, Suzanne, McNair, Lauren, Skinner, Steven A., Neul, Jeffrey L., Glaze, Daniel G., Percy, Alan K.

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Pubertal Development in Rett Syndrome Deviates from Typical Females per Killian, John T., Lane, Jane B., Cutter, Gary R., Skinner, Steven A., Kaufmann, Walter E., Tarquinio, Daniel C., Glaze, Daniel G., Motil, Kathleen J., Neul, Jeffrey L., Percy, Alan K.

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Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome per Ward, Christopher S., Huang, Teng-Wei, Herrera, José A., Samaco, Rodney C., Pitcher, Meagan R., Herron, Alan, Skinner, Steven A., Kaufmann, Walter E., Glaze, Daniel G., Percy, Alan K., Neul, Jeffrey L.

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Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women with Rett Syndrome per Motil, Kathleen J., Caeg, Erwin, Barrish, Judy O., Geerts, Suzanne, Lane, Jane B., Percy, Alan K., Annese, Fran, McNair, Lauren, Skinner, Steven A., Lee, Hye-Seung, Neul, Jeffrey L., Glaze, Daniel G.

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Profiling Scoliosis in Rett Syndrome per Percy, Alan K., Lee, Hye-Seung, Neul, Jeffrey L., Lane, Jane B., Skinner, Steven A., Geerts, Suzanne P., Annese, Fran, Graham, Joy, McNair, Lauren, Motil, Kathleen J., Barrish, Judy O., Glaze, Daniel G.

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Rett syndrome diagnostic criteria: Lessons from the Natural History Study per Percy, Alan K., Neul, Jeffrey L., Glaze, Daniel G., Motil, Kathleen J., Skinner, Steven A., Khwaja, Omar, Lee, Hye-Seung, Lane, Jane B., Barrish, Judy O, Annese, Fran, McNair, Lauren, Graham, Joy, Barnes, Katherine

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The course of awake breathing disturbances across the lifespan in Rett syndrome per Tarquinio, Daniel C., Hou, Wei, Neul, Jeffrey L., Berkmen, Gamze Kilic, Drummond, Jana, Aronoff, Elizabeth, Harris, Jennifer, Lane, Jane B., Kaufmann, Walter E., Motil, Kathleen J., Glaze, Daniel G., Skinner, Steven A., Percy, Alan K.

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Growth failure and outcome in Rett syndrome: Specific growth references per Tarquinio, Daniel Charles, Motil, Kathleen J., Hou, Wei, Lee, Hye-Seung, Glaze, Daniel G., Skinner, Steven A., Neul, Jeff L., Annese, Fran, McNair, Lauren, Barrish, Judy O., Geerts, Suzanne P., Lane, Jane B., Percy, Alan K.

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Developmental delay in Rett syndrome: data from the natural history study per Neul, Jeffrey L, Lane, Jane B, Lee, Hye-Seung, Geerts, Suzanne, Barrish, Judy O, Annese, Fran, Baggett, Lauren McNair, Barnes, Katherine, Skinner, Steven A, Motil, Kathleen J, Glaze, Daniel G, Kaufmann, Walter E, Percy, Alan K

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Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2 per Sajan, Samin A., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Glaze, Daniel G., Kaufmann, Walter E., Skinner, Steven A., Anese, Fran, Friez, Michael J., Jane, Lane, Percy, Alan K., Neul, Jeffrey L.

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Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome per Motil, Kathleen J., Geerts, Suzanne, Annese, Fran, Neul, Jeffrey L., Benke, Tim, Marsh, Eric, Lieberman, David, Skinner, Steven A., Glaze, Daniel G., Heydemann, Peter, Beisang, Arthur, Standridge, Shannon, Ryther, Robin, Lane, Jane B., Edwards, Lloyd, Percy, Alan K.

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Methyl-CpG-binding protein 2 (MEPC2) mutation type is associated with disease severity in Rett Syndrome per Cuddapah, Vishnu Anand, Pillai, Rajesh B, Shekar, Kiran V, Lane, Jane B, Motil, Kathleen J, Skinner, Steven A, Tarquinio, Daniel Charles, Glaze, Daniel G, McGwin, Gerald, Kaufmann, Walter E, Percy, Alan K, Neul, Jeffrey L, Olsen, Michelle L

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