A Placebo-Controlled Trial of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome

por Wassif, Christopher A., Kratz, Lisa, Sparks, Susan E., Wheeler, Courtney, Bianconi, Simona, Gropman, Andrea, Calis, Karim A., Kelley, Richard I., Tierney, Elaine, Porter, Forbes D.
Publicado 2016

Neurofilament Light Chain Levels Correlate with Clinical Measures in CLN3 Disease

por Dang Do, An N., Sinaii, Ninet, Masvekar, Ruturaj R., Baker, Eva H., Thurm, Audrey E., Soldatos, Ariane G., Bianconi, Simona E., Bielekova, Bibiana, Porter, Forbes D.
Publicado 2020

Phenotypic expression of swallowing function in Niemann–Pick disease type C1

por Solomon, Beth I., Muñoz, Andrea M., Sinaii, Ninet, Farhat, Nicole M., Smith, Andrew C., Bianconi, Simona, Dang Do, An, Backman, Michael C., Machielse, Leonza, Porter, Forbes D.
Publicado 2022

The Cerebellar Dopaminergic System

por Flace, Paolo, Livrea, Paolo, Basile, Gianpaolo Antonio, Galletta, Diana, Bizzoca, Antonella, Gennarini, Gianfranco, Bertino, Salvatore, Branca, Jacopo Junio Valerio, Gulisano, Massimo, Bianconi, Simona, Bramanti, Alessia, Anastasi, Giuseppe
Publicado 2021

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update

por Thurm, Audrey, Tierney, Elaine, Farmer, Cristan, Albert, Phebe, Joseph, Lisa, Swedo, Susan, Bianconi, Simona, Bukelis, Irena, Wheeler, Courtney, Sarphare, Geeta, Lanham, Diane, Wassif, Christopher A., Porter, Forbes D.
Publicado 2016

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

por Rahhal, Samar, Farmer, Cristan, Thurm, Audrey, Wassif, Christopher A., Cawley, Niamh X., Perreault, John, Dang Do, An, Bianconi, Simona, Hannah-Shmouni, Fady, Guthrie, Whitney, Cubit, Laura S., Miller, Judith S., Sutton, V. Reid, Koeberl, Dwight, Porter, Forbes D.
Publicado 2023

X-linked Creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model

por Levin, Mark D., Bianconi, Simona, Smith, Andrew, Cawley, Niamh X., Do, An Dang, Hammond, Dylan, Grafstein, Julia F., Thurm, Audrey, Miller, Judith, Perreault, John, Noguchi, Audrey, Springer, Danielle, Kozel, Beth A., Spurney, Christopher F., Wassif, Christopher A., Yu, Zu-Xi, Schulze, Andreas, Porter, Forbes D., Hannah-Shmouni, Fady
Publicado 2021