Angelman Syndrome in Adulthood

Por Larson, Anna M., Shinnick, Julianna E., Shaaya, Elias A., Thiele, Elizabeth A., Thibert, Ronald L.
Publicado no Am J Med Genet A (2014)

Characterizing sleep disorders of adults with tuberous sclerosis complex: A questionnaire-based study and review

Por van Eeghen, Agnies M., Numis, Adam I., Staley, Brigid A., Therrien, Samuel E., Thibert, Ronald L., Thiele, Elizabeth A.
Publicado em 2010

Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

Por Sidorov, Michael S., Deck, Gina M., Dolatshahi, Marjan, Thibert, Ronald L., Bird, Lynne M., Chu, Catherine J., Philpot, Benjamin D.
Publicado no J Neurodev Disord (2017)

Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

Por Sidorov, Michael S., Deck, Gina M., Dolatshahi, Marjan, Thibert, Ronald L., Bird, Lynne M., Chu, Catherine J., Philpot, Benjamin D.
Publicado no J Neurodev Disord (2017)

Novel compound heterozygous mutations expand the recognized phenotypes of FARS2-linked disease

Por Walker, Melissa A., Mohler, Kyle P., Hopkins, Kyle W., Oakley, Derek H., Sweetser, David A., Ibba, Michael, Frosch, Matthew P., Thibert, Ronald L.
Publicado no J Child Neurol (2016)

The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature

Por Urraca, Nora, Cleary, Julie, Brewer, Victoria, Pivnick, Eniko K, McVicar, Kathryn, Thibert, Ronald L, Schanen, N Carolyn, Esmer, Carmen, Lamport, Dustin, Reiter, Lawrence T
Publicado em 2013

A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome

Por Frohlich, Joel, Senturk, Damla, Saravanapandian, Vidya, Golshani, Peyman, Reiter, Lawrence T., Sankar, Raman, Thibert, Ronald L., DiStefano, Charlotte, Huberty, Scott, Cook, Edwin H., Jeste, Shafali S.
Publicado no PLoS One (2016)

A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism

Por Urraca, Nora, Potter, Brian, Hundley, Rachel, Pivnick, Eniko K., McVicar, Kathryn, Thibert, Ronald L., Ledbetter, Christopher, Chamberlain, Reed, Miravalle, Leticia, Sirois, Carissa L., Chamberlain, Stormy, Reiter, Lawrence T.
Publicado no Front Genet (2016)

Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach

Por VAN EEGHEN, AGNIES M, PULSIFER, MARGARET B, MERKER, VANESSA L, NEUMEYER, ANN M, VAN EEGHEN, ELMER E, THIBERT, RONALD L, COLE, ANDREW J, LEIGH, FAWN A, PLOTKIN, SCOTT R, THIELE, ELIZABETH A
Publicado em 2012