Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia

por Jordan, Catherine, Geisel, Gregory, Alecu, Julian E., Zhang, Bo, Sahin, Mustafa, Ebrahimi-Fakhari, Darius
Publicado 2021

Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7

por Ziegler, Marvin, Russell, Bianca E., Eberhardt, Kathrin, Geisel, Gregory, D'Amore, Angelica, Sahin, Mustafa, Kornblum, Harley I., Ebrahimi-Fakhari, Darius
Publicado 2020

Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers

por Kothari, Cartik, Srivastava, Siddharth, Kousa, Youssef, Izem, Rima, Gierdalski, Marcin, Kim, Dongkyu, Good, Amy, Dies, Kira A., Geisel, Gregory, Morizono, Hiroki, Gallo, Vittorio, Pomeroy, Scott L., Garden, Gwenn A., Guay-Woodford, Lisa, Sahin, Mustafa, Avillach, Paul
Publicado 2022

A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome

por Srivastava, Siddharth, Jo, Booil, Zhang, Bo, Frazier, Thomas, Gallagher, Anne Snow, Peck, Fleming, Levin, April R, Mondal, Sangeeta, Li, Zetan, Filip-Dhima, Rajna, Geisel, Gregory, Dies, Kira A, Diplock, Amelia, Eng, Charis, Hanna, Rabi, Sahin, Mustafa, Hardan, Antonio
Publicado 2022