Utilizing telehealth to create a clinical model of care for patients with Batten disease and other rare diseases

por Scherr, Jessica F., Albright, Charles, de los Reyes, Emily
Publicado 2021

Risperidone or Aripiprazole Can Resolve Autism Core Signs and Symptoms in Young Children: Case Study

por Alsayouf, Hamza A., Talo, Haitham, Biddappa, Marisa L., De Los Reyes, Emily
Publicado 2021

Pharmacological Intervention in Children with Autism Spectrum Disorder with Standard Supportive Therapies Significantly Improves Core Signs and Symptoms: A Single-Center, Retrospec...

por Alsayouf, Hamza A, Talo, Haitham, Biddappa, Marisa L, Qasaymeh, Mohammad, Qasem, Shadi, De Los Reyes, Emily
Publicado 2020

1875. La Crosse Virus Neuroinvasive Disease in Children: A Contemporary Review and Evaluation for Predictors of Disease Severity

por Boutzoukas, Angelique Eleni, Freedman, Daniel, Garrett Hunt, W, Mack, Kathleen A, Yildiz, Vedat, Chung, Melissa, Twanow, Jamie, de los Reyes, Emily, Ouellette, Christopher
Publicado 2019

Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration

por Kim, Aryun, Grover, Anita, Hammon, Kevin, de Hart, Greg, Slasor, Peter, Cherukuri, Anu, Ajayi, Temitayo, Jacoby, David, Schulz, Angela, Specchio, Nicola, de Los Reyes, Emily, Gissen, Paul, Henshaw, Joshua W.
Publicado 2020

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease

por Ramadesikan, Swetha, Hickey, Scott, De Los Reyes, Emily, Patel, Anup D., Franklin, Samuel J., Brennan, Patrick, Crist, Erin, Lee, Kristy, White, Peter, McBride, Kim L., Koboldt, Daniel C., Wilson, Richard K.
Publicado 2022

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder

por Hunter, Jesse M., Massingham, Lauren J., Manickam, Kandamurugu, Bartholomew, Dennis, Williamson, Rachel K., Schwab, Jennifer L., Marhabaie, Mohammad, Siemon, Amy, de los Reyes, Emily, Reshmi, Shalini C., Cottrell, Catherine E., Wilson, Richard K., Koboldt, Daniel C.
Publicado 2022

Current knowledge of SLC6A1-related neurodevelopmental disorders

por Goodspeed, Kimberly, Pérez-Palma, Eduardo, Iqbal, Sumaiya, Cooper, Dominique, Scimemi, Annalisa, Johannesen, Katrine M, Stefanski, Arthur, Demarest, Scott, Helbig, Katherine L, Kang, Jingqiong, Shaffo, Frances C, Prentice, Brandon, Brownstein, Catherine A, Lim, Byungchan, Helbig, Ingo, De Los Reyes, Emily, McKnight, Dianalee, Crunelli, Vincenzo, Campbell, Arthur J, Møller, Rikke S, Freed, Amber, Lal, Dennis
Publicado 2020

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

por Mole, Sara E., Schulz, Angela, Badoe, Eben, Berkovic, Samuel F., de Los Reyes, Emily C., Dulz, Simon, Gissen, Paul, Guelbert, Norberto, Lourenco, Charles M., Mason, Heather L., Mink, Jonathan W., Murphy, Noreen, Nickel, Miriam, Olaya, Joffre E., Scarpa, Maurizio, Scheffer, Ingrid E., Simonati, Alessandro, Specchio, Nicola, Von Löbbecke, Ina, Wang, Raymond Y., Williams, Ruth E.
Publicado 2021