Autism Spectrum Disorder Versus Autism Spectrum Disorders: Terminology, Concepts, and Clinical Practice

por Oberman, Lindsay M., Kaufmann, Walter E.
Publicado 2020

Functional Network Mapping Reveals State-Dependent Response to IGF1 Treatment in Rett Syndrome

por Keogh, Conor, Pini, Giorgio, Gemo, Ilaria, Kaufmann, Walter E., Tropea, Daniela
Publicado 2020

Parent Report of Community Psychiatric Comorbid Diagnoses in Autism Spectrum Disorders

por Rosenberg, Rebecca E., Kaufmann, Walter E., Law, J. Kiely, Law, Paul A.
Publicado 2011

Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations

por Oberman, Lindsay M., Boccuto, Luigi, Cascio, Lauren, Sarasua, Sara, Kaufmann, Walter E.
Publicado 2015

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

por Kaufmann, Walter E., Stallworth, Jennifer L., Everman, David B., Skinner, Steven A.
Publicado 2016

Molecular Signatures of Response to Mecasermin in Children With Rett Syndrome

por Shovlin, Stephen, Delepine, Chloe, Swanson, Lindsay, Bach, Snow, Sahin, Mustafa, Sur, Mriganka, Kaufmann, Walter E., Tropea, Daniela
Publicado 2022

Autistic behavior in boys with fragile X syndrome: social approach and HPA-axis dysfunction

por Roberts, Jane E., Clarke, Megan A., Alcorn, Kaitlyn, Carter, John C., Long, Anna C. J., Kaufmann, Walter E.
Publicado 2009

Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome

por Mitz, Andrew R., Philyaw, Travis J., Boccuto, Luigi, Shcheglovitov, Aleksandr, Sarasua, Sara M., Kaufmann, Walter E., Thurm, Audrey
Publicado 2018

Measuring cell-type specific differential methylation in human brain tissue

por Montaño, Carolina M, Irizarry, Rafael A, Kaufmann, Walter E, Talbot, Konrad, Gur, Raquel E, Feinberg, Andrew P, Taub, Margaret A
Publicado 2013

A precision medicine framework using artificial intelligence for the identification and confirmation of genomic biomarkers of response to an Alzheimer's disease therapy: Analysis o...

por Hampel, Harald, Williams, Coralie, Etcheto, Adrien, Goodsaid, Federico, Parmentier, Frédéric, Sallantin, Jean, Kaufmann, Walter E., Missling, Christopher U., Afshar, Mohammad
Publicado 2020

Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort

por Berry-Kravis, Elizabeth, Filipink, Robyn A., Frye, Richard E., Golla, Sailaja, Morris, Stephanie M., Andrews, Howard, Choo, Tse-Hwei, Kaufmann, Walter E.
Publicado 2021

Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome

por Marschik, Peter B., Kaufmann, Walter E., Einspieler, Christa, Bartl-Pokorny, Katrin D., Wolin, Thomas, Pini, Giorgio, Budimirovic, Dejan B., Zappella, Michele, Sigafoos, Jeff
Publicado 2012

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

por Neul, Jeffrey L., Skinner, Steven A., Annese, Fran, Lane, Jane, Heydemann, Peter, Jones, Mary, Kaufmann, Walter E., Glaze, Daniel G., Percy, Alan K.
Publicado 2020

Peculiarities in the gestural repertoire: An early marker for Rett syndrome?

por Marschik, Peter B., Sigafoos, Jeff, Kaufmann, Walter E., Wolin, Thomas, Talisa, Victor B., Bartl-Pokorny, Katrin D., Budimirovic, Dejan B., Vollmann, Ralf, Einspieler, Christa
Publicado 2012

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome

por Budimirovic, Dejan B., Berry-Kravis, Elizabeth, Erickson, Craig A., Hall, Scott S., Hessl, David, Reiss, Allan L., King, Margaret K., Abbeduto, Leonard, Kaufmann, Walter E.
Publicado 2017

Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na(+)-channel-blocking antiepileptic drugs

por Herrera, José A., Ward, Christopher S., Pitcher, Meagan R., Percy, Alan K., Skinner, Steven, Kaufmann, Walter E., Glaze, Daniel G., Wehrens, Xander H. T., Neul, Jeffrey L.
Publicado 2015

Response to Placebo in Fragile X Syndrome Clinical Trials: An Initial Analysis

por Luu, Skylar, Province, Haley, Berry-Kravis, Elizabeth, Hagerman, Randi, Hessl, David, Vaidya, Dhananjay, Lozano, Reymundo, Rosselot, Hilary, Erickson, Craig, Kaufmann, Walter E., Budimirovic, Dejan B.
Publicado 2020

Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales

por Barnes, Katherine V., Coughlin, Francesca R., O’Leary, Heather M., Bruck, Natalie, Bazin, Grace A., Beinecke, Emily B., Walco, Alexandra C., Cantwell, Nicole G., Kaufmann, Walter E.
Publicado 2015

Arbaclofen in fragile X syndrome: results of phase 3 trials

por Berry-Kravis, Elizabeth, Hagerman, Randi, Visootsak, Jeannie, Budimirovic, Dejan, Kaufmann, Walter E., Cherubini, Maryann, Zarevics, Peter, Walton-Bowen, Karen, Wang, Paul, Bear, Mark F., Carpenter, Randall L.
Publicado 2017

Changing the perspective on early development of Rett syndrome

por Marschik, Peter B., Kaufmann, Walter E., Sigafoos, Jeff, Wolin, Thomas, Zhang, Dajie, Bartl-Pokorny, Katrin D., Pini, Giorgio, Zappella, Michele, Tager-Flusberg, Helen, Einspieler, Christa, Johnston, Michael V.
Publicado 2013