Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

Por Kaufmann, Walter E., Stallworth, Jennifer L., Everman, David B., Skinner, Steven A.
Publicado no Expert Opin Orphan Drugs (2016)

The changing face of survival in Rett syndrome and MECP2-related disorders

Por Tarquinio, Daniel C., Hou, Wei, Neul, Jeffrey L., Kaufmann, Walter E., Glaze, Daniel G., Motil, Kathleen J., Skinner, Steven A., Lee, Hye-Seung, Percy, Alan K.
Publicado no Pediatr Neurol (2015)

Vitamin D Deficiency is Prevalent in Females with Rett Syndrome

Por 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.
Publicado em 2011

Longitudinal course of epilepsy in Rett syndrome and related disorders

Por 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
Publicado no Brain (2017)

Pubertal Development in Rett Syndrome Deviates from Typical Females

Por 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.
Publicado no Pediatr Neurol (2014)

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome

Por 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.
Publicado no PLoS One (2016)

Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women with Rett Syndrome

Por 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.
Publicado em 2012

Profiling Scoliosis in Rett Syndrome

Por 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.
Publicado em 2010

Rett syndrome diagnostic criteria: Lessons from the Natural History Study

Por 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
Publicado em 2010

Growth failure and outcome in Rett syndrome: Specific growth references

Por 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.
Publicado em 2012

Developmental delay in Rett syndrome: data from the natural history study

Por 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
Publicado em 2014

Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2

Por 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.
Publicado no Genet Med (2016)

Methyl-CpG-binding protein 2 (MEPC2) mutation type is associated with disease severity in Rett Syndrome

Por 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
Publicado no J Med Genet (2014)

A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations

Por Gentile, Jennifer K., Tan, Wen-Hann, Horowitz, Lucia T., Bacino, Carlos A., Skinner, Steven A., Barbieri-Welge, Rene, Bauer-Carlin, Astrid, Beaudet, Arthur L., Bichell, Terry Jo, Lee, Hye-Seung, Sahoo, Trilochan, Waisbren, Susan E., Bird, Lynne M., Peters, Sarika U.
Publicado em 2010

A Therapeutic Trial of Pro-methylation Dietary Supplements in Angelman Syndrome

Por Bird, Lynne M., Tan, Wen-Hann, Bacino, Carlos A., Peters, Sarika U., Skinner, Steven A., Anselm, Irina, Barbieri-Welge, Rene, Bauer-Carlin, Astrid, Gentile, Jennifer K., Glaze, Daniel G., Horowitz, Lucia T., Mohan, K. Naga, Nespeca, Mark P., Sahoo, Trilochan, Sarco, Dean, Waisbren, Susan E., Beaudet, Arthur L.
Publicado em 2011

Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis

Por Tarquinio, Daniel C., Hou, Wei, Neul, Jeffrey L., Lane, Jane B., Barnes, Katherine V., O’Leary, Heather M., Bruck, Natalie M., Kaufmann, Walter E., Motil, Kathleen J., Glaze, Daniel G., Skinner, Steven A., Annese, Fran, Baggett, Lauren, Barrish, Judy O., Geerts, Suzanne P., Percy, Alan K.
Publicado no Pediatr Neurol (2015)

Angelman Syndrome: Mutations Influence Features in Early Childhood

Por Tan, Wen-Hann, Bacino, Carlos A., Skinner, Steven A., Anselm, Irina, Barbieri-Welge, Rene, Bauer-Carlin, Astrid, Beaudet, Arthur L., Bichell, Terry Jo, Gentile, Jennifer K., Glaze, Daniel G., Horowitz, Lucia T., Kothare, Sanjeev V., Lee, Hye-Seung, Nespeca, Mark P., Peters, Sarika U., Sahoo, Trilochan, Sarco, Dean, Waisbren, Susan E., Bird, Lynne M.
Publicado em 2011

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

Por Hodge, Jennelle C., Mitchell, Elyse, Pillalamarri, Vamsee, Toler, Tomi L., Bartel, Frank, Kearney, Hutton M., Zou, Ying S., Tan, Wen-Hann, Hanscom, Carrie, Kirmani, Salman, Hanson, Rae R., Skinner, Steven A., Rogers, Curtis, Everman, David B., Boyd, Ellen, Mullegama, Sureni V., Keelean-Fuller, Debra, Powell, Cynthia M., Elsea, Sarah H., Morton, Cynthia C., Gusella, James F., DuPont, Barbara, Chaubey, Alka, Lin, Angela E., Talkowski, Michael E.
Publicado no Mol Psychiatry (2013)